FMR1: A gene with three faces
The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resultin...
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| Published in | Biochimica et biophysica acta Vol. 1790; no. 6; pp. 467 - 477 |
|---|---|
| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
Netherlands
Elsevier B.V
01.06.2009
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| Subjects | |
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| Abstract | The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and of translation of target mRNAs at the synapse. FXS is seen as a loss of function disorder. POI and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the FMR1 gene in these disorders is discussed. |
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| AbstractList | The
FMR1
gene is involved in three different syndromes, the Fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the
FMR1
gene resulting in the absence of the
FMR1
mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and of translation of target mRNAs at the synapse. FXS is seen as a loss of function disorder. POI and FXTAS are found in individuals with an expanded repeat between 50–200 CGGs and are associated with increased
FMR1
mRNA levels. The presence of elevated
FMR1
mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the
FMR1
gene in these disorders is discussed. The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and of translation of target mRNAs at the synapse. FXS is seen as a loss of function disorder. POI and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the FMR1 gene in these disorders is discussed.The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and of translation of target mRNAs at the synapse. FXS is seen as a loss of function disorder. POI and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the FMR1 gene in these disorders is discussed. The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and of translation of target mRNAs at the synapse. FXS is seen as a loss of function disorder. POI and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the FMR1 gene in these disorders is discussed. |
| Author | Oostra, Ben A Willemsen, Rob |
| Author_xml | – sequence: 1 givenname: Ben A surname: Oostra fullname: Oostra, Ben A email: b.oostra@erasmusmc.nl – sequence: 2 givenname: Rob surname: Willemsen fullname: Willemsen, Rob |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/19233246$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.gene.2007.02.026 10.1093/humrep/deh635 10.1001/jama.291.4.460 10.1016/j.juro.2006.11.097 10.1093/hmg/1.6.397 10.1093/hmg/10.4.329 10.1093/brain/awh650 10.1093/hmg/10.14.1449 10.1038/sj.ejhg.5201510 10.4161/rna.1.2.1035 10.1212/WNL.57.1.127 10.1126/science.252.5009.1097 10.1016/S0896-6273(02)01006-1 10.1016/0092-8674(94)90232-1 10.1212/01.wnl.0000281692.98200.f5 10.1128/MCB.01377-08 10.1016/j.tins.2004.04.009 10.1016/j.devcel.2008.04.003 10.1038/nn736 10.1007/BF00291644 10.1038/ncpneuro0373 10.1086/302774 10.1093/hmg/4.5.895 10.1016/0092-8674(91)90283-5 10.1016/S0092-8674(01)00568-2 10.1073/pnas.122205699 10.1038/ng0693-143 10.1093/hmg/8.12.2317 10.1086/302976 10.1093/hmg/ddg114 10.1128/MCB.19.12.7925 10.1126/science.7692601 10.1016/j.yexcr.2006.10.002 10.1136/jmg.2003.012518 10.1016/S0968-0004(03)00033-1 10.1523/JNEUROSCI.1790-06.2006 10.1086/374321 10.1038/ng0693-140 10.1037/0894-4105.22.1.48 10.1083/jcb.147.1.59 10.1210/jc.2004-0347 10.1016/j.stem.2007.09.001 10.1016/0092-8674(93)90365-W 10.1093/nar/gkf572 10.1093/nar/gkf434 10.1128/MCB.19.8.5675 10.1093/hmg/5.8.1083 10.1016/0092-8674(93)90420-U 10.1093/hmg/ddp182 10.1523/JNEUROSCI.17-05-01539.1997 10.1038/nn746 10.1073/pnas.94.10.5401 10.1093/nar/24.22.4407 10.1523/JNEUROSCI.21-14-05139.2001 10.1093/hmg/4.11.2103 10.1073/pnas.0707484104 10.1093/hmg/8.5.863 10.1093/emboj/20.17.4803 10.1074/jbc.C800055200 10.1002/ajmg.b.30241 10.1016/j.psyneuen.2008.03.011 10.1523/JNEUROSCI.1496-08.2008 10.1038/363722a0 10.1093/hmg/5.1.95 10.1016/j.neuron.2008.10.004 10.1093/hmg/8.13.2557 10.1007/s10519-008-9214-3 10.1073/pnas.94.10.5395 10.1016/0092-8674(91)90397-H 10.1038/ng0193-31 10.1523/JNEUROSCI.1801-06.2006 10.1352/0895-8017(2004)109<154:AIIWTF>2.0.CO;2 10.1002/mrdd.20010 10.1038/330477a0 10.1002/1096-8628(20010115)98:2<161::AID-AJMG1025>3.0.CO;2-B 10.1016/S0896-6273(00)80868-5 10.1086/302985 10.1002/ajmg.b.30482 10.1006/bbrc.1996.1126 10.1038/ng0893-335 10.1093/hmg/11.5.525 10.1016/j.nbd.2008.04.002 10.1016/j.neuron.2005.07.005 10.1016/j.neuron.2007.12.001 10.4088/JCP.v67n0112 10.1093/hmg/6.8.1315 10.1038/nature05977 10.1007/s00439-002-0723-5 10.1038/ejhg.2008.130 10.1111/j.1601-183X.2005.00128.x 10.1006/bbrc.2000.4035 10.1038/ng0297-165 10.1086/367713 10.1016/j.sbi.2006.05.004 10.1523/JNEUROSCI.2969-07.2007 10.1086/302720 10.1073/pnas.151231598 10.1016/j.nbd.2006.06.005 10.1091/mbc.10.9.2945 10.1016/S0092-8674(01)00566-9 10.1016/j.bbr.2005.03.007 10.1038/8807 10.1093/hmg/10.16.1693 10.1093/hmg/7.1.109 10.1016/S0896-6273(03)00533-6 10.1016/j.neuropharm.2005.06.004 10.1016/S1097-2765(00)80012-X 10.1016/j.neuron.2007.07.020 10.1016/j.fertnstert.2006.09.004 10.1002/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R 10.1093/humrep/den050 10.1002/1438-826X(200005)1:1<28::AID-GNFD28>3.0.CO;2-F 10.1002/ajmg.a.30709 10.1523/JNEUROSCI.16-24-07812.1996 10.1093/brain/awh683 10.1086/302963 10.1016/S0896-6273(03)00034-5 10.1093/hmg/ddg331 10.1002/ajmg.1320410306 10.1074/jbc.271.6.2875 10.1007/BF00687814 10.1093/emboj/19.17.4439 10.1006/excr.2000.4932 10.1096/fasebj.13.3.447 10.1002/j.1460-2075.1996.tb00924.x 10.1016/j.neuron.2007.07.021 10.1128/MCB.22.23.8332-8341.2002 |
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| Keywords | Expanded repeat CGG repeat POI Mental retardation FMR1 FXTAS |
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| References | Vianna-Morgante, Costa (bib93) 2000; 67 Iwahashi, Yasui, An, Greco, Tassone, Nannen, Babineau, Lebrilla, Hagerman, Hagerman (bib103) 2006; 129 Nolin, Brown, Glicksman, Houck, Gargano, Sullivan, Biancalana, Brondum-Nielsen, Hjalgrim, Holinski-Feder, Kooy, Longshore, Macpherson, Mandel, Matthijs, Rousseau, Steinbach, Vaisanen, Von Koskull, Sherman (bib7) 2003; 72 Narayanan, Nalavadi, Nakamoto, Thomas, Ceman, Bassell, Warren (bib67) 2008; 283 Jacquemont, Farzin, Hall, Leehey, Tassone, Gane, Zhang, Grigsby, Jardini, Lewin, Berry-Kravis, Hagerman, Hagerman (bib100) 2004; 109 Verheij, Bakker, de Graaff, Keulemans, Willemsen, Verkerk, Galjaard, Reuser, Hoogeveen, Oostra (bib8) 1993; 363 Reyniers, Vits, De Boulle, Van Roy, Van Velzen, de Graaff, Verkerk, Jorens, Darby, Oostra, Willems (bib31) 1993; 4 Tamanini, Willemsen, van Unen, Bontekoe, Galjaard, Oostra, Hoogeveen (bib11) 1997; 6 Tassone, Adams, Berry-Kravis, Cohen, Brusco, Leehey, Li, Hagerman, Hagerman (bib105) 2007; 144B De Vrij, Levenga, Van der Linde, Koekkoek, De Zeeuw, Nelson, Oostra, Willemsen (bib75) 2008; 31 Tamanini, Bontekoe, Bakker, van Unen, Anar, Willemsen, Yoshida, Galjaard, Oostra, Hoogeveen (bib50) 1999; 8 Ceman, Brown, Warren (bib20) 1999; 19 Schenck, Bardoni, Moro, Bagni, Mandel (bib23) 2001; 98 Welt, Smith, Taylor (bib94) 2004; 89 Galvez, Greenough (bib81) 2005; 135 Hessl, Tassone, Loesch, Berry-Kravis, Leehey, Gane, Barbato, Rice, Gould, Hall, Grigsby, Wegelin, Harris, Lewin, Weinberg, Hagerman, Hagerman (bib124) 2005; 139B Miller, Urbinati, Teng-Umnuay, Stenberg, Byrne, Thornton, Swanson (bib123) 2000; 19 Greco, Soontrapornchai, Wirojanan, Gould, Hagerman, Hagerman (bib129) 2007; 177 Tassone, Hagerman, Taylor, Gane, Godfrey, Hagerman (bib108) 2000; 66 Sittler, Devys, Weber, Mandel (bib18) 1996; 5 Jacquemont, Hagerman, Leehey, Grigsby, Zhang, Brunberg, Greco, Des Portes, Jardini, Levine, Berry-Kravis, Brown, Schaeffer, Kissel, Tassone, Hagerman (bib99) 2003; 72 Tassone, Hagerman, Garcia-Arocena, Khandjian, Greco, Hagerman (bib110) 2004; 41 Sherman (bib89) 2000; 67 Brouwer, Mientjes, Bakker, Nieuwenhuizen, Severijnen, Van der Linde, Nelson, Oostra, Willemsen (bib37) 2007; 313 Sullivan, Marcus, Epstein, Allen, Anido, Paquin, Yadav-Shah, Sherman (bib96) 2004; 20 Ennis, Ward, Murray (bib97) 2006; 14 Wittenberger, Hagerman, Sherman, McConkie-Rosell, Welt, Rebar, Corrigan, Simpson, Nelson (bib90) 2007; 87 Siomi, Choi, Siomi, Nussbaum, Dreyfuss (bib47) 1994; 77 Irwin, Patel, Idupulapati, Harris, Crisostomo, Larsen, Kooy, Willems, Cras, Kozlowski, Swain, Weiler, Greenough (bib72) 2001; 98 E.M. Berry-Kravis, D. Hessl, S. Coffey, C. Hervey, A. Schneider, J. Yuhas, J. Hutchison, M. Snape, M. Tranfaglia, D.V. Nguyen, R. Hagerman, A pilot open-label single-dose trial of fenobam in adults with fragile X syndrome, J. Med. Genet. (in press). Jin, Duan, Qurashi, Qin, Tian, Rosser, Liu, Feng, Warren (bib120) 2007; 55 White, Borts, Hirst (bib25) 1999; 19 Pietrobono, Pomponi, Tabolacci, Oostra, Chiurazzi, Neri (bib43) 2002; 30 De Boulle, Verkerk, Reyniers, Vits, Hendrickx, Van Roy, Van den Bos, de Graaff, Oostra, Willems (bib46) 1993; 3 Kwiatkowski, Zhang, Bandura, Heiberger, Glogauer, el-Hashemite, Onda (bib87) 2002; 11 Bassell, Oleynikov, Singer (bib60) 1999; 13 Yan, Rammal, Tranfaglia, Bauchwitz (bib84) 2005; 49 Hunter, Allen, Abramowitz, Rusin, Leslie, Novak, Hamilton, Shubeck, Charen, Sherman (bib127) 2008; 38 Coffee, Zhang, Warren, Reines (bib40) 1999; 22 Laggerbauer, Ostareck, Keidel, Ostareck-Lederer, Fischer (bib51) 2001; 10 Matsuzaki, Ellis-Davies, Nemoto, Miyashita, Iino, Kasai (bib85) 2001; 4 Verkerk, Pieretti, Sutcliffe, Fu, Kuhl, Pizzuti, Reiner, Richards, Victoria, Zhang, Eussen, Van Ommen, Blonden, Riggins, Chastain, Kunst, Galjaard, Caskey, Nelson, Oostra, Warren (bib3) 1991; 65 De Diego Otero, Bakker, Raghoe, Severijnen, Hoogeveen, Oostra, Willemsen (bib13) 2000; 1 Darnell, Jensen, Jin, Brown, Warren, Darnell (bib53) 2001; 107 Rudelli, Brown, Wisniewski, Jenkins, Laure-Kamionowska, Connell, Wisniewski (bib71) 1985; 67 Willemsen, Bontekoe, Tamanini, Galjaard, Hoogeveen, Oostra (bib14) 1996; 225 Sherman, Jacobs, Morton, Froster-Iskenius, Howard-Peebles, Nielsen, Partington, Sutherland, Turner, Watson (bib2) 1985; 69 Wöhrle, Hennig, Vogel, Steinbach (bib34) 1993; 4 Jin, Zarnescu, Zhang, Pearson, Lucchesi, Moses, Warren (bib107) 2003; 39 Tassone, Iwahashi, Hagerman (bib111) 2004; 1 Hansen, Canfield, Lamb, Gartler, Laird (bib33) 1993; 73 Timchenko, Miller, Timchenko, DeVore, Datar, Lin, Roberts, Caskey, Swanson (bib122) 1996; 24 Hagerman (bib1) 2002 Leehey, Berry-Kravis, Goetz, Zhang, Hall, Li, Rice, Lara, Cogswell, Reynolds, Gane, Jacquemont, Tassone, Grigsby, Hagerman, Hagerman (bib106) 2008; 70 Kenneson, Zhang, Hagedorn, Warren (bib109) 2001; 10 Louis, Moskowitz, Friez, Amaya, Vonsattel (bib128) 2006; 27 Hagerman, Hagerman (bib101) 2007; 3 Jacquemont, Hagerman, Leehey, Hall, Levine, Brunberg, Zhang, Jardini, Gane, Harris, Herman, Grigsby, Greco, Berry-Kravis, Tassone, Hagerman (bib104) 2004; 291 Knowles, Sabry, Martone, Deerinck, Ellisman, Bassell, Kosik (bib59) 1996; 16 Bakker, de Diego Otero, Bontekoe, Raghoe, Luteijn, Hoogeveen, Oostra, Willemsen (bib12) 2000; 258 Brown, Jin, Ceman, Darnell, O'Donnell, Tenenbaum, Jin, Feng, Wilkinson, Keene, Darnell, Warren (bib54) 2001; 107 Bardoni, Schenck, Mandel (bib22) 1999; 8 Hagerman, Leehey, Heinrichs, Tassone, Wilson, Hills, Grigsby, Gage, Hagerman (bib98) 2001; 57 Greco, Berman, Martin, Tassone, Schwartz, Chang, Trapp, Iwahashi, Brunberg, Grigsby, Hessl, Becker, Papazian, Leehey, Hagerman, Hagerman (bib102) 2006; 129 Sofola, Jin, Qin, Duan, Liu, de Haro, Nelson, Botas (bib121) 2007; 55 Eberhart, Malter, Feng, Warren (bib16) 1996; 5 Grigsby, Brega, Engle, Leehey, Hagerman, Tassone, Hessl, Hagerman, Cogswell, Bennett, Cook, Hall, Bounds, Paulich, Reynolds (bib126) 2008; 22 Verheij, De Graaff, Bakker, Willemsen, Willems, Meijer, Galjaard, Reuser, Oostra, Hoogeveen (bib48) 1995; 4 Bergink, Severijnen, Wijgers, Sugasawa, Yousaf, Kros, van Swieten, Oostra, Hoeijmakers, Vermeulen, Willemsen (bib117) 2006; 23 Ceman, Nelson, Warren (bib21) 2000; 279 Tabolacci, Moscato, Zalfa, Bagni, Chiurazzi, Neri (bib41) 2008; 16 Dictenberg, Swanger, Antar, Singer, Bassell (bib65) 2008; 14 Martin, Zukin (bib58) 2006; 26 Devys, Lutz, Rouyer, Bellocq, Mandel (bib9) 1993; 4 Feng, Absher, Eberhart, Brown, Malter, Warren (bib49) 1997; 1 Hinton, Brown, Wisniewski, Rudelli (bib70) 1991; 41 Zhang, Singer, Bassell (bib64) 1999; 147 Hundscheid, Sistermans, Thomas, Braat, Straatman, Kiemeney, Oostra, Smits (bib91) 2000; 66 Davis, Banker, Steward (bib57) 1987; 330 Oberlé, Rousseau, Heitz, Kretz, Devys, Hanauer, Boue, Bertheas, Mandel (bib5) 1991; 252 Antar, Dictenberg, Plociniak, Afroz, Bassell (bib62) 2005; 4 Comery, Harris, Willems, Oostra, Irwin, Weiler, Greenough (bib73) 1997; 94 Dolen, Osterweil, Rao, Smith, Auerbach, Chattarji, Bear (bib80) 2007; 56 Willemsen, Hoogeveen-Westerveld, Reis, Holstege, Severijnen, Nieuwenhuizen, Schrier, VanUnen, Tassone, Hoogeveen, Hagerman, Mientjes, Oostra (bib115) 2003; 12 Narayanan, Nalavadi, Nakamoto, Pallas, Ceman, Bassell, Warren (bib66) 2007; 27 Feng, Gutekunst, Eberhart, Yi, Warren, Hersch (bib10) 1997; 17 Kim, Bellini, Ceman (bib19) 2008; 29 Nakamoto, Nalavadi, Epstein, Narayanan, Bassell, Warren (bib79) 2007; 104 Kiebler, DesGroseillers (bib68) 2000; 25 Rohr, Allen, Charen, Giles, He, Dominguez, Sherman (bib95) 2008; 23 Chiurazzi, Pomponi, Willemsen, Oostra, Neri (bib42) 1998; 7 Willemsen, Oostra, Bassell, Dictenberg (bib114) 2004; 10 Mirkin (bib27) 2007; 447 Van Dam, Errijgers, Kooy, Willemsen, Mientjes, Oostra, De Deyn (bib130) 2005; 162 Pearson, Tam, Wang, Montgomery, Dar, Cleary, Nichol (bib26) 2002; 30 Koekkoek, Yamaguchi, Milojkovic, Dortland, Ruigrok, Maex, De Graaf, Smit, Vanderwerf, Bakker, Willemsen, Ikeda, Kakizawa, Onodera, Nelson, Mientjes, Joosten, De Schutter, Oostra, Ito, De Zeeuw (bib83) 2005; 47 Brouwer, Severijnen, de Jong, Hessl, Hagerman, Oostra, Willemsen (bib116) 2008; 33 Entezam, Biacsi, Orrison, Saha, Hoffman, Grabczyk, Nussbaum, Usdin (bib36) 2007; 395 Miyashiro, Beckel-Mitchener, Purk, Becker, Barret, Liu, Carbonetto, Weiler, Greenough, Eberwine (bib55) 2003; 37 Tassone, Hagerman, Chamberlain, Hagerman (bib113) 2000; 97 Smeets, Smits, Verheij, Theelen, Willemsen, Losekoot, Van de Burgt, Hoogeveen, Oosterwijk, Oostra (bib29) 1995; 4 Murray, Ennis, Morton (bib92) 2000; 67 Bassell, Warren (bib56) 2008; 60 Grossman, Aldridge, Weiler, Greenough (bib82) 2006; 26 Mirkin (bib28) 2006; 16 Wells (bib24) 1996; 271 Kohrmann, Luo, Kaether, DesGroseillers, Dotti, Kiebler (bib63) 1999; 10 Weiler, Irwin, Klintsova, Spencer, Brazelton, Miyashiro, Comery, Patel, Eberwine, Greenough (bib15) 1997; 94 Hu, Qin, Bochorishvili, Zhu, van Aelst, Zhu (bib88) 2008; 28 Willemsen, Bontekoe, Severijnen, Oostra (bib38) 2002; 110 Ashley, Wilkinson, Reines, Warren (bib44) 1993; 262 Eiges, Urbach, Malcov, Frumkin, Schwartz, Amit, Yaron, Eden, Yanuka, Benvenisty, Ben-Yosef (bib30) 2007; 1 Chiurazzi, Pomponi, Pietrobono, Bakker, Neri, Oostra (bib39) 1999; 8 Nimchinsky, Oberlander, Svoboda (bib74) 2001; 21 Malter, Iber, Willemsen, De Graaff, Tarleton, Leisti, Warren, Oostra (bib32) 1997; 15 Schaeffer, Bardoni, Mandel, Ehresmann, Ehresmann, Moine (bib52) 2001; 20 Bear, Huber, Warren (bib78) 2004; 27 Bontekoe, Bakker, Nieuwenhuizen, van Der Linde, Lans, de Lange, Hirst, Oostra (bib35) 2001; 10 Snyder, Philpot, Huber, Dong, Fallon, Bear (bib77) 2001; 4 Fu, Kuhl, Pizzuti, Pieretti, Sutcliffe, Richards, Verkerk, Holden, Fenwick, Warren, Oostra, Nelson, Caskey (bib4) 1991; 67 Siomi, Siomi, Nussbaum, Dreyfuss (bib45) 1993; 74 Bacalman, Farzin, Bourgeois, Cogswell, Goodlin-Jones, Gane, Grigsby, Leehey, Tassone, Hagerman (bib125) 2006; 67 Fridell, Benson, Hua, Bogerd, Cullen (bib17) 1996; 15 Chen, Tassone, Sahota, Hagerman (bib112) 2003; 12 V. Hashem, J.N. Galloway, M. Mori, R. Willemsen, B.A. Oostra, R. Paylor, D.L. Nelson, Ectopic expression of CGG containing mRNA is neurotoxic in mammals, Hum. Mol. Genet. (in press). Sutcliffe, Pearson (10.1016/j.bbagen.2009.02.007_bib26) 2002; 30 Verheij (10.1016/j.bbagen.2009.02.007_bib48) 1995; 4 Entezam (10.1016/j.bbagen.2009.02.007_bib36) 2007; 395 Kwiatkowski (10.1016/j.bbagen.2009.02.007_bib87) 2002; 11 Darnell (10.1016/j.bbagen.2009.02.007_bib53) 2001; 107 Feng (10.1016/j.bbagen.2009.02.007_bib10) 1997; 17 Rohr (10.1016/j.bbagen.2009.02.007_bib95) 2008; 23 Tassone (10.1016/j.bbagen.2009.02.007_bib108) 2000; 66 Ceman (10.1016/j.bbagen.2009.02.007_bib20) 1999; 19 10.1016/j.bbagen.2009.02.007_bib86 Bear (10.1016/j.bbagen.2009.02.007_bib78) 2004; 27 Wöhrle (10.1016/j.bbagen.2009.02.007_bib34) 1993; 4 Ceman (10.1016/j.bbagen.2009.02.007_bib21) 2000; 279 Verheij (10.1016/j.bbagen.2009.02.007_bib8) 1993; 363 Antar (10.1016/j.bbagen.2009.02.007_bib62) 2005; 4 Tassone (10.1016/j.bbagen.2009.02.007_bib111) 2004; 1 Bassell (10.1016/j.bbagen.2009.02.007_bib56) 2008; 60 Knowles (10.1016/j.bbagen.2009.02.007_bib59) 1996; 16 Louis (10.1016/j.bbagen.2009.02.007_bib128) 2006; 27 Malter (10.1016/j.bbagen.2009.02.007_bib32) 1997; 15 Chiurazzi (10.1016/j.bbagen.2009.02.007_bib42) 1998; 7 Dolen (10.1016/j.bbagen.2009.02.007_bib80) 2007; 56 Tamanini (10.1016/j.bbagen.2009.02.007_bib11) 1997; 6 Jin (10.1016/j.bbagen.2009.02.007_bib107) 2003; 39 Jacquemont (10.1016/j.bbagen.2009.02.007_bib104) 2004; 291 Ashley (10.1016/j.bbagen.2009.02.007_bib44) 1993; 262 Nolin (10.1016/j.bbagen.2009.02.007_bib7) 2003; 72 Leehey (10.1016/j.bbagen.2009.02.007_bib106) 2008; 70 Mirkin (10.1016/j.bbagen.2009.02.007_bib28) 2006; 16 Siomi (10.1016/j.bbagen.2009.02.007_bib47) 1994; 77 Hundscheid (10.1016/j.bbagen.2009.02.007_bib91) 2000; 66 Narayanan (10.1016/j.bbagen.2009.02.007_bib66) 2007; 27 Hagerman (10.1016/j.bbagen.2009.02.007_bib98) 2001; 57 Kim (10.1016/j.bbagen.2009.02.007_bib19) 2008; 29 Wittenberger (10.1016/j.bbagen.2009.02.007_bib90) 2007; 87 Matsuzaki (10.1016/j.bbagen.2009.02.007_bib85) 2001; 4 Chen (10.1016/j.bbagen.2009.02.007_bib112) 2003; 12 Hessl (10.1016/j.bbagen.2009.02.007_bib124) 2005; 139B Van Dam (10.1016/j.bbagen.2009.02.007_bib130) 2005; 162 Comery (10.1016/j.bbagen.2009.02.007_bib73) 1997; 94 Hagerman (10.1016/j.bbagen.2009.02.007_bib1) 2002 Fridell (10.1016/j.bbagen.2009.02.007_bib17) 1996; 15 Fu (10.1016/j.bbagen.2009.02.007_bib4) 1991; 67 Weiler (10.1016/j.bbagen.2009.02.007_bib15) 1997; 94 Grossman (10.1016/j.bbagen.2009.02.007_bib82) 2006; 26 Timchenko (10.1016/j.bbagen.2009.02.007_bib122) 1996; 24 Chiurazzi (10.1016/j.bbagen.2009.02.007_bib39) 1999; 8 Bakker (10.1016/j.bbagen.2009.02.007_bib12) 2000; 258 Eiges (10.1016/j.bbagen.2009.02.007_bib30) 2007; 1 10.1016/j.bbagen.2009.02.007_bib118 Narayanan (10.1016/j.bbagen.2009.02.007_bib67) 2008; 283 Kohrmann (10.1016/j.bbagen.2009.02.007_bib63) 1999; 10 Wells (10.1016/j.bbagen.2009.02.007_bib24) 1996; 271 Welt (10.1016/j.bbagen.2009.02.007_bib94) 2004; 89 Martin (10.1016/j.bbagen.2009.02.007_bib58) 2006; 26 Zhang (10.1016/j.bbagen.2009.02.007_bib64) 1999; 147 Reyniers (10.1016/j.bbagen.2009.02.007_bib31) 1993; 4 Koekkoek (10.1016/j.bbagen.2009.02.007_bib83) 2005; 47 Hu (10.1016/j.bbagen.2009.02.007_bib88) 2008; 28 Laggerbauer (10.1016/j.bbagen.2009.02.007_bib51) 2001; 10 Siomi (10.1016/j.bbagen.2009.02.007_bib45) 1993; 74 Tassone (10.1016/j.bbagen.2009.02.007_bib113) 2000; 97 Tassone (10.1016/j.bbagen.2009.02.007_bib105) 2007; 144B Greco (10.1016/j.bbagen.2009.02.007_bib129) 2007; 177 Schaeffer (10.1016/j.bbagen.2009.02.007_bib52) 2001; 20 Bergink (10.1016/j.bbagen.2009.02.007_bib117) 2006; 23 Jin (10.1016/j.bbagen.2009.02.007_bib120) 2007; 55 Ennis (10.1016/j.bbagen.2009.02.007_bib97) 2006; 14 Miller (10.1016/j.bbagen.2009.02.007_bib123) 2000; 19 Miyashiro (10.1016/j.bbagen.2009.02.007_bib55) 2003; 37 Snyder (10.1016/j.bbagen.2009.02.007_bib77) 2001; 4 Bacalman (10.1016/j.bbagen.2009.02.007_bib125) 2006; 67 White (10.1016/j.bbagen.2009.02.007_bib25) 1999; 19 De Diego Otero (10.1016/j.bbagen.2009.02.007_bib61) 2002; 22 Hinton (10.1016/j.bbagen.2009.02.007_bib70) 1991; 41 Sherman (10.1016/j.bbagen.2009.02.007_bib2) 1985; 69 Eberhart (10.1016/j.bbagen.2009.02.007_bib16) 1996; 5 Rudelli (10.1016/j.bbagen.2009.02.007_bib71) 1985; 67 Sherman (10.1016/j.bbagen.2009.02.007_bib89) 2000; 67 Irwin (10.1016/j.bbagen.2009.02.007_bib72) 2001; 98 Sullivan (10.1016/j.bbagen.2009.02.007_bib96) 2004; 20 Greco (10.1016/j.bbagen.2009.02.007_bib102) 2006; 129 Coffee (10.1016/j.bbagen.2009.02.007_bib40) 1999; 22 Jacquemont (10.1016/j.bbagen.2009.02.007_bib100) 2004; 109 Brouwer (10.1016/j.bbagen.2009.02.007_bib116) 2008; 33 Murray (10.1016/j.bbagen.2009.02.007_bib92) 2000; 67 Schenck (10.1016/j.bbagen.2009.02.007_bib23) 2001; 98 Hagerman (10.1016/j.bbagen.2009.02.007_bib101) 2007; 3 Iwahashi (10.1016/j.bbagen.2009.02.007_bib103) 2006; 129 Huber (10.1016/j.bbagen.2009.02.007_bib76) 2002; 99 Oberlé (10.1016/j.bbagen.2009.02.007_bib5) 1991; 252 De Vrij (10.1016/j.bbagen.2009.02.007_bib75) 2008; 31 Devys (10.1016/j.bbagen.2009.02.007_bib9) 1993; 4 Pietrobono (10.1016/j.bbagen.2009.02.007_bib43) 2002; 30 De Boulle (10.1016/j.bbagen.2009.02.007_bib46) 1993; 3 Hansen (10.1016/j.bbagen.2009.02.007_bib33) 1993; 73 Feng (10.1016/j.bbagen.2009.02.007_bib49) 1997; 1 Willemsen (10.1016/j.bbagen.2009.02.007_bib38) 2002; 110 Bontekoe (10.1016/j.bbagen.2009.02.007_bib35) 2001; 10 Brown (10.1016/j.bbagen.2009.02.007_bib54) 2001; 107 Grigsby (10.1016/j.bbagen.2009.02.007_bib126) 2008; 22 Sittler (10.1016/j.bbagen.2009.02.007_bib18) 1996; 5 Jacquemont (10.1016/j.bbagen.2009.02.007_bib99) 2003; 72 Tamanini (10.1016/j.bbagen.2009.02.007_bib50) 1999; 8 Sofola (10.1016/j.bbagen.2009.02.007_bib121) 2007; 55 Kenneson (10.1016/j.bbagen.2009.02.007_bib109) 2001; 10 Tassone (10.1016/j.bbagen.2009.02.007_bib110) 2004; 41 Mirkin (10.1016/j.bbagen.2009.02.007_bib27) 2007; 447 Willemsen (10.1016/j.bbagen.2009.02.007_bib115) 2003; 12 Nakamoto (10.1016/j.bbagen.2009.02.007_bib79) 2007; 104 Willemsen (10.1016/j.bbagen.2009.02.007_bib114) 2004; 10 Verkerk (10.1016/j.bbagen.2009.02.007_bib3) 1991; 65 Vianna-Morgante (10.1016/j.bbagen.2009.02.007_bib93) 2000; 67 Bassell (10.1016/j.bbagen.2009.02.007_bib60) 1999; 13 Smeets (10.1016/j.bbagen.2009.02.007_bib29) 1995; 4 Brouwer (10.1016/j.bbagen.2009.02.007_bib37) 2007; 313 Dictenberg (10.1016/j.bbagen.2009.02.007_bib65) 2008; 14 Davis (10.1016/j.bbagen.2009.02.007_bib57) 1987; 330 Galvez (10.1016/j.bbagen.2009.02.007_bib81) 2005; 135 Yan (10.1016/j.bbagen.2009.02.007_bib84) 2005; 49 Bardoni (10.1016/j.bbagen.2009.02.007_bib22) 1999; 8 Willemsen (10.1016/j.bbagen.2009.02.007_bib14) 1996; 225 Kiebler (10.1016/j.bbagen.2009.02.007_bib68) 2000; 25 Tabolacci (10.1016/j.bbagen.2009.02.007_bib41) 2008; 16 Nimchinsky (10.1016/j.bbagen.2009.02.007_bib74) 2001; 21 Sutcliffe (10.1016/j.bbagen.2009.02.007_bib6) 1992; 1 Hunter (10.1016/j.bbagen.2009.02.007_bib127) 2008; 38 De Diego Otero (10.1016/j.bbagen.2009.02.007_bib13) 2000; 1 Steward (10.1016/j.bbagen.2009.02.007_bib69) 2002; 36 Jin (10.1016/j.bbagen.2009.02.007_bib119) 2003; 28 |
| References_xml | – volume: 395 start-page: 125 year: 2007 end-page: 134 ident: bib36 article-title: Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model publication-title: Gene – volume: 16 start-page: 1487 year: 2008 end-page: 1498 ident: bib41 article-title: Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations publication-title: Eur. J. Hum. Genet. – volume: 283 start-page: 18478 year: 2008 end-page: 18482 ident: bib67 article-title: S6K1 phosphorylates and regulates FMRP with the neuronal protein synthesis-dependent mTOR signaling cascade publication-title: J. Biol. Chem. – volume: 30 start-page: 3278 year: 2002 end-page: 3285 ident: bib43 article-title: Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine publication-title: Nucleic Acids Res. – volume: 67 start-page: 254 year: 2000 end-page: 255 ident: bib93 article-title: Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X publication-title: Am. J. Hum. Genet. – volume: 22 start-page: 8332 year: 2002 end-page: 8341 ident: bib61 article-title: Transport of fragile X mental retardation protein via granules in neurites of PC12 cells publication-title: Mol. Cell. Biol. – volume: 14 start-page: 253 year: 2006 end-page: 255 ident: bib97 article-title: Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers publication-title: Eur. J. Hum. Genet. – volume: 69 start-page: 289 year: 1985 end-page: 299 ident: bib2 article-title: Further segregation analysis of the fragile X syndrome with special reference to transmitting males publication-title: Hum. Genet. – volume: 15 start-page: 165 year: 1997 end-page: 169 ident: bib32 article-title: Characterization of the full fragile X syndrome mutation in fetal gametes. publication-title: Nat. Genet. – volume: 313 start-page: 244 year: 2007 end-page: 253 ident: bib37 article-title: Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation publication-title: Exp. Cell Res. – volume: 67 start-page: 11 year: 2000 end-page: 13 ident: bib89 article-title: Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? publication-title: Am. J. Hum. Genet. – volume: 147 start-page: 59 year: 1999 end-page: 70 ident: bib64 article-title: Neurotrophin regulation of beta-actin mRNA and protein localization within growth cones publication-title: J. Cell Biol. – volume: 4 start-page: 1086 year: 2001 end-page: 1092 ident: bib85 article-title: Dendritic spine geometry is critical for AMPA receptor expression in hippocampal CA1 pyramidal neurons publication-title: Nat. Neurosci. – volume: 19 start-page: 5675 year: 1999 end-page: 5684 ident: bib25 article-title: Stability of the human fragile X (CGG)(n) triplet repeat array in publication-title: Mol. Cell. Biol. – volume: 8 start-page: 863 year: 1999 end-page: 869 ident: bib50 article-title: Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations publication-title: Hum. Mol. Genet. – volume: 49 start-page: 1053 year: 2005 end-page: 1066 ident: bib84 article-title: Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP publication-title: Neuropharmacology – volume: 21 start-page: 5139 year: 2001 end-page: 5146 ident: bib74 article-title: Abnormal development of dendritic spines in fmr1 knock-out mice publication-title: J. Neurosci. – volume: 27 start-page: 193 year: 2006 end-page: 201 ident: bib128 article-title: Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical–pathological study publication-title: Mov. Disord. – volume: 10 start-page: 1449 year: 2001 end-page: 1454 ident: bib109 article-title: Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers publication-title: Hum. Mol. Genet. – volume: 4 start-page: 1079 year: 2001 end-page: 1085 ident: bib77 article-title: Internalization of ionotropic glutamate receptors in response to mGluR activation publication-title: Nat. Neurosci. – volume: 74 start-page: 291 year: 1993 end-page: 298 ident: bib45 article-title: The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein publication-title: Cell – volume: 16 start-page: 351 year: 2006 end-page: 358 ident: bib28 article-title: DNA structures, repeat expansions and human hereditary disorders publication-title: Curr. Opin. Struct. Biol. – volume: 57 start-page: 127 year: 2001 end-page: 130 ident: bib98 article-title: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X publication-title: Neurology – reference: E.M. Berry-Kravis, D. Hessl, S. Coffey, C. Hervey, A. Schneider, J. Yuhas, J. Hutchison, M. Snape, M. Tranfaglia, D.V. Nguyen, R. Hagerman, A pilot open-label single-dose trial of fenobam in adults with fragile X syndrome, J. Med. Genet. (in press). – volume: 4 start-page: 895 year: 1995 end-page: 901 ident: bib48 article-title: Characterization of FMR1 proteins isolated from different tissues publication-title: Hum. Mol. Genet. – volume: 26 start-page: 7151 year: 2006 end-page: 7155 ident: bib82 article-title: Local protein synthesis and spine morphogenesis: fragile X syndrome and beyond publication-title: J. Neurosci. – volume: 28 start-page: 7847 year: 2008 end-page: 7862 ident: bib88 article-title: Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome publication-title: J. Neurosci. – volume: 27 start-page: 370 year: 2004 end-page: 377 ident: bib78 article-title: The mGluR theory of fragile X mental retardation publication-title: Trends Neurosci. – volume: 107 start-page: 489 year: 2001 end-page: 499 ident: bib53 article-title: Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function publication-title: Cell – volume: 107 start-page: 477 year: 2001 end-page: 487 ident: bib54 article-title: Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome publication-title: Cell – volume: 15 start-page: 5408 year: 1996 end-page: 5414 ident: bib17 article-title: A nuclear role for the fragile X mental retardation protein publication-title: EMBO J. – volume: 94 start-page: 5401 year: 1997 end-page: 5404 ident: bib73 article-title: Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits publication-title: Proc. Natl. Acad. Sci. U. S. A. – volume: 4 start-page: 140 year: 1993 end-page: 142 ident: bib34 article-title: Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion publication-title: Nat. Genet. – volume: 36 start-page: 338 year: 2002 end-page: 340 ident: bib69 article-title: mRNA at synapses, synaptic plasticity, and memory consolidation publication-title: Neuron – volume: 70 start-page: 1397 year: 2008 end-page: 1402 ident: bib106 article-title: FMR1 CGG repeat length predicts motor dysfunction in premutation carriers publication-title: Neurology – volume: 67 start-page: 253 year: 2000 end-page: 254 ident: bib92 article-title: No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers publication-title: Am. J. Hum. Genet. – volume: 129 start-page: 243 year: 2006 end-page: 255 ident: bib102 article-title: Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS) publication-title: Brain – volume: 19 start-page: 4439 year: 2000 end-page: 4448 ident: bib123 article-title: Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy publication-title: EMBO J. – volume: 8 start-page: 2317 year: 1999 end-page: 2323 ident: bib39 article-title: Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene publication-title: Hum. Mol. Genet. – volume: 20 start-page: 4803 year: 2001 end-page: 4813 ident: bib52 article-title: The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif publication-title: EMBO J. – volume: 135 start-page: 155 year: 2005 end-page: 160 ident: bib81 article-title: Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome publication-title: Am. J. Med. Genet. A – volume: 4 start-page: 2103 year: 1995 end-page: 2108 ident: bib29 article-title: Normal phenotype in two brothers with a full FMR1 mutation publication-title: Hum. Mol. Genet. – volume: 99 start-page: 7746 year: 2002 end-page: 7750 ident: bib76 article-title: Altered synaptic plasticity in a mouse model of fragile X mental retardation publication-title: Proc. Natl. Acad. Sci. U. S. A. – volume: 65 start-page: 905 year: 1991 end-page: 914 ident: bib3 article-title: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome publication-title: Cell – volume: 225 start-page: 27 year: 1996 end-page: 33 ident: bib14 article-title: Association of FMRP with ribosomal precursor particles in the nucleolus publication-title: Biochem. Biophys. Res. Commun. – volume: 10 start-page: 329 year: 2001 end-page: 338 ident: bib51 article-title: Evidence that fragile X mental retardation protein is a negative regulator of translation publication-title: Hum. Mol. Genet. – volume: 33 start-page: 863 year: 2008 end-page: 873 ident: bib116 article-title: Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome publication-title: Psychoneuroendocrinology – volume: 271 start-page: 2875 year: 1996 end-page: 2878 ident: bib24 article-title: Molecular basis of genetic instability of triplet repeats publication-title: J. Biol. Chem. – volume: 56 start-page: 955 year: 2007 end-page: 962 ident: bib80 article-title: Correction of fragile X syndrome in mice publication-title: Neuron – volume: 11 start-page: 525 year: 2002 end-page: 534 ident: bib87 article-title: A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70 S6 kinase activity in Tsc1 null cells publication-title: Hum. Mol. Genet. – volume: 47 start-page: 339 year: 2005 end-page: 352 ident: bib83 article-title: Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome publication-title: Neuron – volume: 77 start-page: 33 year: 1994 end-page: 39 ident: bib47 article-title: Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome publication-title: Cell – volume: 22 start-page: 98 year: 1999 end-page: 101 ident: bib40 article-title: Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells publication-title: Nat. Genet. – volume: 8 start-page: 2557 year: 1999 end-page: 2566 ident: bib22 article-title: A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein publication-title: Hum. Mol. Genet. – volume: 16 start-page: 7812 year: 1996 end-page: 7820 ident: bib59 article-title: Translocation of RNA granules in living neurons publication-title: J. Neurosci. – volume: 279 start-page: 904 year: 2000 end-page: 908 ident: bib21 article-title: Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle publication-title: Biochem. Biophys. Res. Commun. – volume: 162 start-page: 233 year: 2005 end-page: 239 ident: bib130 article-title: Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS) publication-title: Behav. Brain Res. – volume: 17 start-page: 1539 year: 1997 end-page: 1547 ident: bib10 article-title: Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes publication-title: J. Neurosci. – volume: 3 start-page: 31 year: 1993 end-page: 35 ident: bib46 article-title: A point mutation in the FMR-1 gene associated with fragile X mental retardation publication-title: Nat. Genet. – volume: 73 start-page: 1403 year: 1993 end-page: 1409 ident: bib33 article-title: Association of fragile X syndrome with delayed replication of the FMR1 gene publication-title: Cell – reference: V. Hashem, J.N. Galloway, M. Mori, R. Willemsen, B.A. Oostra, R. Paylor, D.L. Nelson, Ectopic expression of CGG containing mRNA is neurotoxic in mammals, Hum. Mol. Genet. (in press). – volume: 447 start-page: 932 year: 2007 end-page: 940 ident: bib27 article-title: Expandable DNA repeats and human disease publication-title: Nature – volume: 23 start-page: 708 year: 2006 end-page: 716 ident: bib117 article-title: The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair publication-title: Neurobiol. Dis. – volume: 24 start-page: 4407 year: 1996 end-page: 4414 ident: bib122 article-title: Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy publication-title: Nucleic. Acids Res. – volume: 60 start-page: 201 year: 2008 end-page: 214 ident: bib56 article-title: Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function publication-title: Neuron – volume: 363 start-page: 722 year: 1993 end-page: 724 ident: bib8 article-title: Characterization and localization of the FMR-1 gene product associated with fragile X syndrome publication-title: Nature – volume: 1 start-page: 109 year: 1997 end-page: 118 ident: bib49 article-title: FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association publication-title: Mol. Cell – volume: 1 start-page: 568 year: 2007 end-page: 577 ident: bib30 article-title: Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos publication-title: Cell Stem Cell – volume: 67 start-page: 1047 year: 1991 end-page: 1058 ident: bib4 article-title: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox publication-title: Cell – volume: 66 start-page: 413 year: 2000 end-page: 418 ident: bib91 article-title: Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations publication-title: Am. J. Hum. Genet. – volume: 98 start-page: 161 year: 2001 end-page: 167 ident: bib72 article-title: Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination publication-title: Am. J. Med. Genet. – volume: 38 start-page: 493 year: 2008 end-page: 502 ident: bib127 article-title: Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers publication-title: Behav. Genet. – volume: 29 start-page: 214 year: 2008 end-page: 228 ident: bib19 article-title: Fragile X mental retardation protein FMRP binds mRNAs in the nucleus publication-title: Mol. Cell. Biol. – volume: 139B start-page: 115 year: 2005 end-page: 121 ident: bib124 article-title: Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation publication-title: Am. J. Med. Genet. B Neuropsychiatr. Genet. – volume: 1 start-page: 28 year: 2000 end-page: 37 ident: bib13 article-title: Immunocytochemical characterization of FMRP, FXR1P and FXR2P during embryonic development in the mouse publication-title: Gene Funct. Dis. – volume: 25 start-page: 19 year: 2000 end-page: 28 ident: bib68 article-title: Molecular insights into mRNA transport and local translation in the mammalian nervous system publication-title: Neuron – volume: 109 start-page: 154 year: 2004 end-page: 164 ident: bib100 article-title: Aging in individuals with the FMR1 mutation publication-title: Am. J. Ment. Retard. – volume: 252 start-page: 1097 year: 1991 end-page: 1102 ident: bib5 article-title: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome publication-title: Science – volume: 7 start-page: 109 year: 1998 end-page: 113 ident: bib42 article-title: In vitro reactivation of the FMR1 gene involved in fragile X syndrome publication-title: Hum. Mol. Genet. – volume: 12 start-page: 949 year: 2003 end-page: 959 ident: bib115 article-title: The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. publication-title: Hum. Mol. Genet. – volume: 177 start-page: 1434 year: 2007 end-page: 1437 ident: bib129 article-title: Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome publication-title: J. Urol. – volume: 104 start-page: 15537 year: 2007 end-page: 15542 ident: bib79 article-title: Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors publication-title: Proc. Natl. Acad. Sci. U. S. A. – volume: 27 start-page: 14349 year: 2007 end-page: 14357 ident: bib66 article-title: FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A publication-title: J. Neurosci. – volume: 28 start-page: 152 year: 2003 end-page: 158 ident: bib119 article-title: New insights into fragile X syndrome: from molecules to neurobehaviors publication-title: Trends Biochem. Sci. – volume: 37 start-page: 417 year: 2003 end-page: 431 ident: bib55 article-title: RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice publication-title: Neuron – volume: 14 start-page: 926 year: 2008 end-page: 939 ident: bib65 article-title: A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome publication-title: Dev. Cell – volume: 97 start-page: 195 year: 2000 end-page: 203 ident: bib113 article-title: Transcription of the FMR1 gene in individuals with fragile X syndrome publication-title: Am. J. Med. Genet. – volume: 4 start-page: 143 year: 1993 end-page: 146 ident: bib31 article-title: The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm publication-title: Nat. Genet. – volume: 129 start-page: 256 year: 2006 end-page: 271 ident: bib103 article-title: Protein composition of the intranuclear inclusions of FXTAS publication-title: Brain – volume: 98 start-page: 8844 year: 2001 end-page: 8849 ident: bib23 article-title: A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P publication-title: Proc. Natl. Acad. Sci. U. S. A. – volume: 94 start-page: 5395 year: 1997 end-page: 5400 ident: bib15 article-title: Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation publication-title: Proc. Natl. Acad. Sci. U. S. A. – volume: 72 start-page: 869 year: 2003 end-page: 878 ident: bib99 article-title: Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates publication-title: Am. J. Hum. Genet. – volume: 23 start-page: 1220 year: 2008 end-page: 1225 ident: bib95 article-title: Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study publication-title: Hum. Reprod. – volume: 291 start-page: 460 year: 2004 end-page: 469 ident: bib104 article-title: Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population publication-title: JAMA – volume: 10 start-page: 60 year: 2004 end-page: 67 ident: bib114 article-title: The fragile X syndrome: from molecular genetics to neurobiology publication-title: Ment. Retard. Dev. Disabil. Res. Rev. – volume: 67 start-page: 289 year: 1985 end-page: 295 ident: bib71 article-title: Adult fragile X syndrome. Clinico-neuropathologic findings. publication-title: Acta Neuropathol. – volume: 12 start-page: 3067 year: 2003 end-page: 3074 ident: bib112 article-title: The (CGG)n repeat element within the 5′untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter publication-title: Hum. Mol. Genet. – volume: 41 start-page: E43 year: 2004 ident: bib110 article-title: Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome publication-title: J. Med. Genet. – volume: 110 start-page: 601 year: 2002 end-page: 605 ident: bib38 article-title: Timing of the absence of FMR1 expression in full mutation chorionic villi publication-title: Hum. Genet. – volume: 10 start-page: 2945 year: 1999 end-page: 2953 ident: bib63 article-title: Microtubule-dependent recruitment of Staufen-green fluorescent protein into large RNA-containing granules and subsequent dendritic transport in living hippocampal neurons publication-title: Mol. Biol. Cell – volume: 22 start-page: 48 year: 2008 end-page: 60 ident: bib126 article-title: Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome publication-title: Neuropsychology – start-page: 3 year: 2002 end-page: 109 ident: bib1 article-title: The physical and behavioural phenotype publication-title: Fragile-X Syndrome: Diagnosis, Treatment and Research – volume: 5 start-page: 1083 year: 1996 end-page: 1091 ident: bib16 article-title: The fragile X mental retardation protein is a ribosonucleoprotein containing both nuclear localization and nuclear export signals publication-title: Hum. Mol. Genet. – volume: 20 start-page: 402 year: 2004 end-page: 412 ident: bib96 article-title: Association of FMR1 repeat size with ovarian dysfunction publication-title: Hum. Reprod. – volume: 330 start-page: 477 year: 1987 end-page: 479 ident: bib57 article-title: Selective dendritic transport of RNA in hippocampal neurons in culture publication-title: Nature – volume: 39 start-page: 739 year: 2003 end-page: 747 ident: bib107 article-title: RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in publication-title: Neuron – volume: 26 start-page: 7131 year: 2006 end-page: 7134 ident: bib58 article-title: RNA trafficking and local protein synthesis in dendrites: an overview publication-title: J. Neurosci. – volume: 30 start-page: 4534 year: 2002 end-page: 4547 ident: bib26 article-title: Slipped-strand DNAs formed by long (CAG)⁎(CTG) repeats: slipped-out repeats and slip-out junctions publication-title: Nucleic Acids Res. – volume: 1 start-page: 103 year: 2004 end-page: 105 ident: bib111 article-title: FMR1 RNA withinthe intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS publication-title: RNA Biol. – volume: 55 start-page: 565 year: 2007 end-page: 571 ident: bib121 article-title: RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a publication-title: Neuron – volume: 258 start-page: 162 year: 2000 end-page: 170 ident: bib12 article-title: Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse publication-title: Exp. Cell Res. – volume: 55 start-page: 556 year: 2007 end-page: 564 ident: bib120 article-title: Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a publication-title: Neuron – volume: 10 start-page: 1693 year: 2001 end-page: 1699 ident: bib35 article-title: Instability of a (CGG)(98) repeat in the Fmr1 promoter publication-title: Hum. Mol. Genet. – volume: 144B start-page: 566 year: 2007 end-page: 569 ident: bib105 article-title: CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS) publication-title: Am. J. Med. Genet. – volume: 4 start-page: 335 year: 1993 end-page: 340 ident: bib9 article-title: The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation publication-title: Nat. Genet. – volume: 262 start-page: 563 year: 1993 end-page: 568 ident: bib44 article-title: FMR1 protein: conserved RNP family domains and selective RNA binding publication-title: Science – volume: 89 start-page: 4569 year: 2004 end-page: 4574 ident: bib94 article-title: Evidence of early ovarian aging in fragile X premutation carriers publication-title: J. Clin. Endocrinol. Metab. – volume: 4 start-page: 350 year: 2005 end-page: 359 ident: bib62 article-title: Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons publication-title: Genes Brain Behav. – volume: 1 start-page: 397 year: 1992 end-page: 400 ident: bib6 article-title: DNA methylation represses FMR-1 transcription in fragile X syndrome publication-title: Hum. Mol. Genet. – volume: 66 start-page: 6 year: 2000 end-page: 15 ident: bib108 article-title: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome publication-title: Am. J. Hum. Genet. – volume: 67 start-page: 87 year: 2006 end-page: 94 ident: bib125 article-title: Psychiatric phe notype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia publication-title: J. Clin. Psychiatry – volume: 6 start-page: 1315 year: 1997 end-page: 1322 ident: bib11 article-title: Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis publication-title: Hum. Mol. Genet. – volume: 87 start-page: 456 year: 2007 end-page: 465 ident: bib90 article-title: The FMR1 premutation and reproduction publication-title: Fertil Steril – volume: 72 start-page: 454 year: 2003 end-page: 464 ident: bib7 article-title: Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles publication-title: Am. J. Hum. Genet. – volume: 31 start-page: 127 year: 2008 end-page: 132 ident: bib75 article-title: Rescue of behavioral phenotype and neuronal protrusion morphology in FMR1 KO mice publication-title: Neurobiol. Dis. – volume: 3 start-page: 107 year: 2007 end-page: 112 ident: bib101 article-title: Fragile X-associated tremor/ataxia syndrome—an older face of the fragile X gene publication-title: Nat. Clin. Pract. Neurol. – volume: 41 start-page: 289 year: 1991 end-page: 294 ident: bib70 article-title: Analysis of neocortex in three males with the fragile X syndrome publication-title: Am. J. Med. Genet. – volume: 13 start-page: 447 year: 1999 end-page: 454 ident: bib60 article-title: The travels of mRNAs through all cells large and small publication-title: FASEB J. – volume: 19 start-page: 7925 year: 1999 end-page: 7932 ident: bib20 article-title: Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex publication-title: Mol. Cell. Biol. – volume: 5 start-page: 95 year: 1996 end-page: 102 ident: bib18 article-title: Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of FMR1 protein isoforms publication-title: Hum. Mol. Genet. – volume: 395 start-page: 125 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib36 article-title: Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model publication-title: Gene doi: 10.1016/j.gene.2007.02.026 – volume: 20 start-page: 402 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib96 article-title: Association of FMR1 repeat size with ovarian dysfunction publication-title: Hum. Reprod. doi: 10.1093/humrep/deh635 – volume: 291 start-page: 460 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib104 article-title: Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population publication-title: JAMA doi: 10.1001/jama.291.4.460 – volume: 177 start-page: 1434 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib129 article-title: Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome publication-title: J. Urol. doi: 10.1016/j.juro.2006.11.097 – start-page: 3 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib1 article-title: The physical and behavioural phenotype – volume: 1 start-page: 397 year: 1992 ident: 10.1016/j.bbagen.2009.02.007_bib6 article-title: DNA methylation represses FMR-1 transcription in fragile X syndrome publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/1.6.397 – volume: 10 start-page: 329 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib51 article-title: Evidence that fragile X mental retardation protein is a negative regulator of translation publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/10.4.329 – volume: 129 start-page: 256 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib103 article-title: Protein composition of the intranuclear inclusions of FXTAS publication-title: Brain doi: 10.1093/brain/awh650 – volume: 10 start-page: 1449 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib109 article-title: Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/10.14.1449 – volume: 27 start-page: 193 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib128 article-title: Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical–pathological study publication-title: Mov. Disord. – volume: 14 start-page: 253 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib97 article-title: Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers publication-title: Eur. J. Hum. Genet. doi: 10.1038/sj.ejhg.5201510 – volume: 1 start-page: 103 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib111 article-title: FMR1 RNA withinthe intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS publication-title: RNA Biol. doi: 10.4161/rna.1.2.1035 – volume: 57 start-page: 127 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib98 article-title: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X publication-title: Neurology doi: 10.1212/WNL.57.1.127 – volume: 252 start-page: 1097 year: 1991 ident: 10.1016/j.bbagen.2009.02.007_bib5 article-title: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome publication-title: Science doi: 10.1126/science.252.5009.1097 – volume: 36 start-page: 338 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib69 article-title: mRNA at synapses, synaptic plasticity, and memory consolidation publication-title: Neuron doi: 10.1016/S0896-6273(02)01006-1 – volume: 77 start-page: 33 year: 1994 ident: 10.1016/j.bbagen.2009.02.007_bib47 article-title: Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome publication-title: Cell doi: 10.1016/0092-8674(94)90232-1 – volume: 70 start-page: 1397 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib106 article-title: FMR1 CGG repeat length predicts motor dysfunction in premutation carriers publication-title: Neurology doi: 10.1212/01.wnl.0000281692.98200.f5 – volume: 29 start-page: 214 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib19 article-title: Fragile X mental retardation protein FMRP binds mRNAs in the nucleus publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.01377-08 – volume: 27 start-page: 370 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib78 article-title: The mGluR theory of fragile X mental retardation publication-title: Trends Neurosci. doi: 10.1016/j.tins.2004.04.009 – volume: 14 start-page: 926 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib65 article-title: A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome publication-title: Dev. Cell doi: 10.1016/j.devcel.2008.04.003 – volume: 4 start-page: 1086 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib85 article-title: Dendritic spine geometry is critical for AMPA receptor expression in hippocampal CA1 pyramidal neurons publication-title: Nat. Neurosci. doi: 10.1038/nn736 – volume: 69 start-page: 289 year: 1985 ident: 10.1016/j.bbagen.2009.02.007_bib2 article-title: Further segregation analysis of the fragile X syndrome with special reference to transmitting males publication-title: Hum. Genet. doi: 10.1007/BF00291644 – volume: 3 start-page: 107 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib101 article-title: Fragile X-associated tremor/ataxia syndrome—an older face of the fragile X gene publication-title: Nat. Clin. Pract. Neurol. doi: 10.1038/ncpneuro0373 – volume: 66 start-page: 413 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib91 article-title: Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations publication-title: Am. J. Hum. Genet. doi: 10.1086/302774 – volume: 4 start-page: 895 year: 1995 ident: 10.1016/j.bbagen.2009.02.007_bib48 article-title: Characterization of FMR1 proteins isolated from different tissues publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/4.5.895 – volume: 67 start-page: 1047 year: 1991 ident: 10.1016/j.bbagen.2009.02.007_bib4 article-title: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox publication-title: Cell doi: 10.1016/0092-8674(91)90283-5 – volume: 107 start-page: 477 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib54 article-title: Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome publication-title: Cell doi: 10.1016/S0092-8674(01)00568-2 – volume: 99 start-page: 7746 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib76 article-title: Altered synaptic plasticity in a mouse model of fragile X mental retardation publication-title: Proc. Natl. Acad. Sci. U. S. A. doi: 10.1073/pnas.122205699 – volume: 4 start-page: 143 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib31 article-title: The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm publication-title: Nat. Genet. doi: 10.1038/ng0693-143 – volume: 8 start-page: 2317 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib39 article-title: Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/8.12.2317 – volume: 67 start-page: 254 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib93 article-title: Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X publication-title: Am. J. Hum. Genet. doi: 10.1086/302976 – volume: 12 start-page: 949 year: 2003 ident: 10.1016/j.bbagen.2009.02.007_bib115 article-title: The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddg114 – volume: 19 start-page: 7925 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib20 article-title: Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.19.12.7925 – volume: 262 start-page: 563 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib44 article-title: FMR1 protein: conserved RNP family domains and selective RNA binding publication-title: Science doi: 10.1126/science.7692601 – volume: 313 start-page: 244 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib37 article-title: Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation publication-title: Exp. Cell Res. doi: 10.1016/j.yexcr.2006.10.002 – volume: 41 start-page: E43 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib110 article-title: Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome publication-title: J. Med. Genet. doi: 10.1136/jmg.2003.012518 – volume: 28 start-page: 152 year: 2003 ident: 10.1016/j.bbagen.2009.02.007_bib119 article-title: New insights into fragile X syndrome: from molecules to neurobehaviors publication-title: Trends Biochem. Sci. doi: 10.1016/S0968-0004(03)00033-1 – volume: 26 start-page: 7151 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib82 article-title: Local protein synthesis and spine morphogenesis: fragile X syndrome and beyond publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.1790-06.2006 – volume: 72 start-page: 869 year: 2003 ident: 10.1016/j.bbagen.2009.02.007_bib99 article-title: Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates publication-title: Am. J. Hum. Genet. doi: 10.1086/374321 – volume: 4 start-page: 140 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib34 article-title: Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion publication-title: Nat. Genet. doi: 10.1038/ng0693-140 – volume: 22 start-page: 48 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib126 article-title: Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome publication-title: Neuropsychology doi: 10.1037/0894-4105.22.1.48 – volume: 147 start-page: 59 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib64 article-title: Neurotrophin regulation of beta-actin mRNA and protein localization within growth cones publication-title: J. Cell Biol. doi: 10.1083/jcb.147.1.59 – volume: 89 start-page: 4569 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib94 article-title: Evidence of early ovarian aging in fragile X premutation carriers publication-title: J. Clin. Endocrinol. Metab. doi: 10.1210/jc.2004-0347 – volume: 1 start-page: 568 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib30 article-title: Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos publication-title: Cell Stem Cell doi: 10.1016/j.stem.2007.09.001 – volume: 73 start-page: 1403 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib33 article-title: Association of fragile X syndrome with delayed replication of the FMR1 gene publication-title: Cell doi: 10.1016/0092-8674(93)90365-W – volume: 30 start-page: 4534 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib26 article-title: Slipped-strand DNAs formed by long (CAG)⁎(CTG) repeats: slipped-out repeats and slip-out junctions publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkf572 – volume: 30 start-page: 3278 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib43 article-title: Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkf434 – volume: 19 start-page: 5675 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib25 article-title: Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.19.8.5675 – volume: 5 start-page: 1083 year: 1996 ident: 10.1016/j.bbagen.2009.02.007_bib16 article-title: The fragile X mental retardation protein is a ribosonucleoprotein containing both nuclear localization and nuclear export signals publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/5.8.1083 – volume: 74 start-page: 291 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib45 article-title: The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein publication-title: Cell doi: 10.1016/0092-8674(93)90420-U – ident: 10.1016/j.bbagen.2009.02.007_bib118 doi: 10.1093/hmg/ddp182 – volume: 17 start-page: 1539 year: 1997 ident: 10.1016/j.bbagen.2009.02.007_bib10 article-title: Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.17-05-01539.1997 – volume: 4 start-page: 1079 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib77 article-title: Internalization of ionotropic glutamate receptors in response to mGluR activation publication-title: Nat. Neurosci. doi: 10.1038/nn746 – volume: 94 start-page: 5401 year: 1997 ident: 10.1016/j.bbagen.2009.02.007_bib73 article-title: Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits publication-title: Proc. Natl. Acad. Sci. U. S. A. doi: 10.1073/pnas.94.10.5401 – volume: 24 start-page: 4407 year: 1996 ident: 10.1016/j.bbagen.2009.02.007_bib122 article-title: Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy publication-title: Nucleic. Acids Res. doi: 10.1093/nar/24.22.4407 – volume: 21 start-page: 5139 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib74 article-title: Abnormal development of dendritic spines in fmr1 knock-out mice publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.21-14-05139.2001 – volume: 4 start-page: 2103 year: 1995 ident: 10.1016/j.bbagen.2009.02.007_bib29 article-title: Normal phenotype in two brothers with a full FMR1 mutation publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/4.11.2103 – volume: 104 start-page: 15537 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib79 article-title: Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors publication-title: Proc. Natl. Acad. Sci. U. S. A. doi: 10.1073/pnas.0707484104 – volume: 8 start-page: 863 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib50 article-title: Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/8.5.863 – volume: 20 start-page: 4803 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib52 article-title: The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif publication-title: EMBO J. doi: 10.1093/emboj/20.17.4803 – volume: 283 start-page: 18478 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib67 article-title: S6K1 phosphorylates and regulates FMRP with the neuronal protein synthesis-dependent mTOR signaling cascade publication-title: J. Biol. Chem. doi: 10.1074/jbc.C800055200 – volume: 139B start-page: 115 year: 2005 ident: 10.1016/j.bbagen.2009.02.007_bib124 article-title: Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation publication-title: Am. J. Med. Genet. B Neuropsychiatr. Genet. doi: 10.1002/ajmg.b.30241 – volume: 33 start-page: 863 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib116 article-title: Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome publication-title: Psychoneuroendocrinology doi: 10.1016/j.psyneuen.2008.03.011 – volume: 28 start-page: 7847 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib88 article-title: Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.1496-08.2008 – volume: 363 start-page: 722 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib8 article-title: Characterization and localization of the FMR-1 gene product associated with fragile X syndrome publication-title: Nature doi: 10.1038/363722a0 – volume: 5 start-page: 95 year: 1996 ident: 10.1016/j.bbagen.2009.02.007_bib18 article-title: Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of FMR1 protein isoforms publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/5.1.95 – volume: 60 start-page: 201 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib56 article-title: Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function publication-title: Neuron doi: 10.1016/j.neuron.2008.10.004 – volume: 8 start-page: 2557 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib22 article-title: A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/8.13.2557 – volume: 38 start-page: 493 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib127 article-title: Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers publication-title: Behav. Genet. doi: 10.1007/s10519-008-9214-3 – volume: 94 start-page: 5395 year: 1997 ident: 10.1016/j.bbagen.2009.02.007_bib15 article-title: Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation publication-title: Proc. Natl. Acad. Sci. U. S. A. doi: 10.1073/pnas.94.10.5395 – volume: 65 start-page: 905 year: 1991 ident: 10.1016/j.bbagen.2009.02.007_bib3 article-title: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome publication-title: Cell doi: 10.1016/0092-8674(91)90397-H – volume: 3 start-page: 31 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib46 article-title: A point mutation in the FMR-1 gene associated with fragile X mental retardation publication-title: Nat. Genet. doi: 10.1038/ng0193-31 – volume: 26 start-page: 7131 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib58 article-title: RNA trafficking and local protein synthesis in dendrites: an overview publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.1801-06.2006 – volume: 109 start-page: 154 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib100 article-title: Aging in individuals with the FMR1 mutation publication-title: Am. J. Ment. Retard. doi: 10.1352/0895-8017(2004)109<154:AIIWTF>2.0.CO;2 – volume: 10 start-page: 60 year: 2004 ident: 10.1016/j.bbagen.2009.02.007_bib114 article-title: The fragile X syndrome: from molecular genetics to neurobiology publication-title: Ment. Retard. Dev. Disabil. Res. Rev. doi: 10.1002/mrdd.20010 – volume: 330 start-page: 477 year: 1987 ident: 10.1016/j.bbagen.2009.02.007_bib57 article-title: Selective dendritic transport of RNA in hippocampal neurons in culture publication-title: Nature doi: 10.1038/330477a0 – volume: 98 start-page: 161 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib72 article-title: Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination publication-title: Am. J. Med. Genet. doi: 10.1002/1096-8628(20010115)98:2<161::AID-AJMG1025>3.0.CO;2-B – volume: 25 start-page: 19 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib68 article-title: Molecular insights into mRNA transport and local translation in the mammalian nervous system publication-title: Neuron doi: 10.1016/S0896-6273(00)80868-5 – volume: 67 start-page: 11 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib89 article-title: Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? publication-title: Am. J. Hum. Genet. doi: 10.1086/302985 – volume: 144B start-page: 566 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib105 article-title: CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS) publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.b.30482 – volume: 225 start-page: 27 year: 1996 ident: 10.1016/j.bbagen.2009.02.007_bib14 article-title: Association of FMRP with ribosomal precursor particles in the nucleolus publication-title: Biochem. Biophys. Res. Commun. doi: 10.1006/bbrc.1996.1126 – volume: 4 start-page: 335 year: 1993 ident: 10.1016/j.bbagen.2009.02.007_bib9 article-title: The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation publication-title: Nat. Genet. doi: 10.1038/ng0893-335 – volume: 11 start-page: 525 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib87 article-title: A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70 S6 kinase activity in Tsc1 null cells publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/11.5.525 – volume: 31 start-page: 127 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib75 article-title: Rescue of behavioral phenotype and neuronal protrusion morphology in FMR1 KO mice publication-title: Neurobiol. Dis. doi: 10.1016/j.nbd.2008.04.002 – volume: 47 start-page: 339 year: 2005 ident: 10.1016/j.bbagen.2009.02.007_bib83 article-title: Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome publication-title: Neuron doi: 10.1016/j.neuron.2005.07.005 – volume: 56 start-page: 955 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib80 article-title: Correction of fragile X syndrome in mice publication-title: Neuron doi: 10.1016/j.neuron.2007.12.001 – volume: 67 start-page: 87 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib125 article-title: Psychiatric phe notype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia publication-title: J. Clin. Psychiatry doi: 10.4088/JCP.v67n0112 – volume: 6 start-page: 1315 year: 1997 ident: 10.1016/j.bbagen.2009.02.007_bib11 article-title: Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/6.8.1315 – volume: 447 start-page: 932 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib27 article-title: Expandable DNA repeats and human disease publication-title: Nature doi: 10.1038/nature05977 – volume: 110 start-page: 601 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib38 article-title: Timing of the absence of FMR1 expression in full mutation chorionic villi publication-title: Hum. Genet. doi: 10.1007/s00439-002-0723-5 – volume: 16 start-page: 1487 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib41 article-title: Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations publication-title: Eur. J. Hum. Genet. doi: 10.1038/ejhg.2008.130 – volume: 4 start-page: 350 year: 2005 ident: 10.1016/j.bbagen.2009.02.007_bib62 article-title: Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons publication-title: Genes Brain Behav. doi: 10.1111/j.1601-183X.2005.00128.x – volume: 279 start-page: 904 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib21 article-title: Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle publication-title: Biochem. Biophys. Res. Commun. doi: 10.1006/bbrc.2000.4035 – volume: 15 start-page: 165 year: 1997 ident: 10.1016/j.bbagen.2009.02.007_bib32 article-title: Characterization of the full fragile X syndrome mutation in fetal gametes. publication-title: Nat. Genet. doi: 10.1038/ng0297-165 – volume: 72 start-page: 454 year: 2003 ident: 10.1016/j.bbagen.2009.02.007_bib7 article-title: Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles publication-title: Am. J. Hum. Genet. doi: 10.1086/367713 – volume: 16 start-page: 351 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib28 article-title: DNA structures, repeat expansions and human hereditary disorders publication-title: Curr. Opin. Struct. Biol. doi: 10.1016/j.sbi.2006.05.004 – volume: 27 start-page: 14349 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib66 article-title: FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.2969-07.2007 – volume: 66 start-page: 6 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib108 article-title: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome publication-title: Am. J. Hum. Genet. doi: 10.1086/302720 – volume: 98 start-page: 8844 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib23 article-title: A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P publication-title: Proc. Natl. Acad. Sci. U. S. A. doi: 10.1073/pnas.151231598 – volume: 23 start-page: 708 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib117 article-title: The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair publication-title: Neurobiol. Dis. doi: 10.1016/j.nbd.2006.06.005 – volume: 10 start-page: 2945 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib63 article-title: Microtubule-dependent recruitment of Staufen-green fluorescent protein into large RNA-containing granules and subsequent dendritic transport in living hippocampal neurons publication-title: Mol. Biol. Cell doi: 10.1091/mbc.10.9.2945 – volume: 107 start-page: 489 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib53 article-title: Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function publication-title: Cell doi: 10.1016/S0092-8674(01)00566-9 – volume: 162 start-page: 233 year: 2005 ident: 10.1016/j.bbagen.2009.02.007_bib130 article-title: Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS) publication-title: Behav. Brain Res. doi: 10.1016/j.bbr.2005.03.007 – volume: 22 start-page: 98 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib40 article-title: Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells publication-title: Nat. Genet. doi: 10.1038/8807 – volume: 10 start-page: 1693 year: 2001 ident: 10.1016/j.bbagen.2009.02.007_bib35 article-title: Instability of a (CGG)(98) repeat in the Fmr1 promoter publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/10.16.1693 – volume: 7 start-page: 109 year: 1998 ident: 10.1016/j.bbagen.2009.02.007_bib42 article-title: In vitro reactivation of the FMR1 gene involved in fragile X syndrome publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/7.1.109 – volume: 39 start-page: 739 year: 2003 ident: 10.1016/j.bbagen.2009.02.007_bib107 article-title: RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila publication-title: Neuron doi: 10.1016/S0896-6273(03)00533-6 – volume: 49 start-page: 1053 year: 2005 ident: 10.1016/j.bbagen.2009.02.007_bib84 article-title: Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP publication-title: Neuropharmacology doi: 10.1016/j.neuropharm.2005.06.004 – volume: 1 start-page: 109 year: 1997 ident: 10.1016/j.bbagen.2009.02.007_bib49 article-title: FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association publication-title: Mol. Cell doi: 10.1016/S1097-2765(00)80012-X – volume: 55 start-page: 556 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib120 article-title: Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome publication-title: Neuron doi: 10.1016/j.neuron.2007.07.020 – volume: 87 start-page: 456 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib90 article-title: The FMR1 premutation and reproduction publication-title: Fertil Steril doi: 10.1016/j.fertnstert.2006.09.004 – volume: 97 start-page: 195 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib113 article-title: Transcription of the FMR1 gene in individuals with fragile X syndrome publication-title: Am. J. Med. Genet. doi: 10.1002/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R – volume: 23 start-page: 1220 year: 2008 ident: 10.1016/j.bbagen.2009.02.007_bib95 article-title: Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study publication-title: Hum. Reprod. doi: 10.1093/humrep/den050 – volume: 1 start-page: 28 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib13 article-title: Immunocytochemical characterization of FMRP, FXR1P and FXR2P during embryonic development in the mouse publication-title: Gene Funct. Dis. doi: 10.1002/1438-826X(200005)1:1<28::AID-GNFD28>3.0.CO;2-F – volume: 135 start-page: 155 year: 2005 ident: 10.1016/j.bbagen.2009.02.007_bib81 article-title: Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.30709 – volume: 16 start-page: 7812 year: 1996 ident: 10.1016/j.bbagen.2009.02.007_bib59 article-title: Translocation of RNA granules in living neurons publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.16-24-07812.1996 – volume: 129 start-page: 243 year: 2006 ident: 10.1016/j.bbagen.2009.02.007_bib102 article-title: Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS) publication-title: Brain doi: 10.1093/brain/awh683 – volume: 67 start-page: 253 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib92 article-title: No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers publication-title: Am. J. Hum. Genet. doi: 10.1086/302963 – volume: 37 start-page: 417 year: 2003 ident: 10.1016/j.bbagen.2009.02.007_bib55 article-title: RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice publication-title: Neuron doi: 10.1016/S0896-6273(03)00034-5 – volume: 12 start-page: 3067 year: 2003 ident: 10.1016/j.bbagen.2009.02.007_bib112 article-title: The (CGG)n repeat element within the 5′untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddg331 – volume: 41 start-page: 289 year: 1991 ident: 10.1016/j.bbagen.2009.02.007_bib70 article-title: Analysis of neocortex in three males with the fragile X syndrome publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1320410306 – volume: 271 start-page: 2875 year: 1996 ident: 10.1016/j.bbagen.2009.02.007_bib24 article-title: Molecular basis of genetic instability of triplet repeats publication-title: J. Biol. Chem. doi: 10.1074/jbc.271.6.2875 – volume: 67 start-page: 289 year: 1985 ident: 10.1016/j.bbagen.2009.02.007_bib71 article-title: Adult fragile X syndrome. Clinico-neuropathologic findings. publication-title: Acta Neuropathol. doi: 10.1007/BF00687814 – ident: 10.1016/j.bbagen.2009.02.007_bib86 – volume: 19 start-page: 4439 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib123 article-title: Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy publication-title: EMBO J. doi: 10.1093/emboj/19.17.4439 – volume: 258 start-page: 162 year: 2000 ident: 10.1016/j.bbagen.2009.02.007_bib12 article-title: Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse publication-title: Exp. Cell Res. doi: 10.1006/excr.2000.4932 – volume: 13 start-page: 447 year: 1999 ident: 10.1016/j.bbagen.2009.02.007_bib60 article-title: The travels of mRNAs through all cells large and small publication-title: FASEB J. doi: 10.1096/fasebj.13.3.447 – volume: 15 start-page: 5408 year: 1996 ident: 10.1016/j.bbagen.2009.02.007_bib17 article-title: A nuclear role for the fragile X mental retardation protein publication-title: EMBO J. doi: 10.1002/j.1460-2075.1996.tb00924.x – volume: 55 start-page: 565 year: 2007 ident: 10.1016/j.bbagen.2009.02.007_bib121 article-title: RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS publication-title: Neuron doi: 10.1016/j.neuron.2007.07.021 – volume: 22 start-page: 8332 year: 2002 ident: 10.1016/j.bbagen.2009.02.007_bib61 article-title: Transport of fragile X mental retardation protein via granules in neurites of PC12 cells publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.22.23.8332-8341.2002 |
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| Snippet | The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated... The FMR1 gene is involved in three different syndromes, the Fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the Fragile X-associated... |
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| SubjectTerms | Animals CGG repeat Dendritic Spines - metabolism Dendritic Spines - ultrastructure Disease Models, Animal Epigenesis, Genetic Expanded repeat Female FMR1 Fragile X Mental Retardation Protein - chemistry Fragile X Mental Retardation Protein - genetics Fragile X Mental Retardation Protein - metabolism Fragile X Syndrome - genetics Fragile X Syndrome - physiopathology FXTAS Humans Mental retardation Mutation POI Primary Ovarian Insufficiency - genetics Protein Biosynthesis Ribonucleoproteins - metabolism Synapses - metabolism Tremor - genetics Trinucleotide Repeat Expansion |
| Title | FMR1: A gene with three faces |
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