Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease
Buglo, Elena, Sarmiento, Evan, Martuscelli, Nicole Belliard, Sant, David W, Danzi, Matt C, Abrams, Alexander J, Dallman, Julia E, Züchner, Stephan
Published in PloS one (24.03.2020)
Published in PloS one (24.03.2020)
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Journal Article
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
The stress-responsive gene GDPGP1/mcp-1 regulates neuronal glycogen metabolism and survival
Schulz, Alexander, Sekine, Yuichi, Oyeyemi, Motunrayo J, Abrams, Alexander J, Basavaraju, Manasa, Han, Sung Min, Groth, Marco, Morrison, Helen, Strittmatter, Stephen M, Hammarlund, Marc
Published in The Journal of cell biology (03.02.2020)
Published in The Journal of cell biology (03.02.2020)
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Journal Article
Insights into the genotype‐phenotype correlation and molecular function of SLC25A46
Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie B. L., Buglo, Elena, Campeanu, Ion J., Rebelo, Adriana P., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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Journal Article
A scalable top-gate graphene field effect transistor with a polydimethylsiloxane dielectric
Athas, Jordan, Ereifej, Joseph, Torres Quiñones, Jorge, Abrams, Alexander, Yun, Minhee
Published in Nano Trends (01.06.2024)
Published in Nano Trends (01.06.2024)
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Journal Article
Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes
KERR, Bredford, SOTO C, Jessica, SAEZ, Mauricio, ABRAMS, Alexander, WALZ, Katherina, YOUNG, Juan I
Published in European journal of human genetics : EJHG (01.01.2012)
Published in European journal of human genetics : EJHG (01.01.2012)
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Journal Article
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1
Cukier, Holly N, Lee, Joycelyn M, Ma, Deqiong, Young, Juan I, Mayo, Vera, Butler, Brittany L, Ramsook, Sandhya S, Rantus, Joseph A, Abrams, Alexander J, Whitehead, Patrice L, Wright, Harry H, Abramson, Ruth K, Haines, Jonathan L, Cuccaro, Michael L, Pericak-Vance, Margaret A, Gilbert, John R
Published in Autism research (01.12.2012)
Published in Autism research (01.12.2012)
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Journal Article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
FOLEY, A. Reghan, MENEZES, Manoj P, HUGHES, Imelda, MCCULLAGH, B. Gary, JUNGBLUTH, Heinz, LIM, Ming J, LIN, Jean-Pierre, MEGARBANE, Andre, ANDONI URTIZBEREA, J, SHAH, Ayaz H, ANTONY, Jayne, WEBSTER, Richard, PANDRAUD, Amelie, BROOMFIELD, Alexander, NG, Joanne, MATHEW, Ann A, O'BYRNE, James J, FORMAN, Eva, SCOTO, Mariacristina, PRASAD, Manish, O'BRIEN, Katherine, OLPIN, Simon, OPPENHEIM, Marcus, GONZALEZ, Michael A, HARGREAVES, Iain, LAND, John M, WANG, Min X, CARPENTER, Kevin, HORVATH, Rita, STRAUB, Volker, LEK, Monkol, GOLD, Wendy, FARRELL, Michael O, BRANDNER, Sebastian, AL-ODAIB, Ahmad, PHADKE, Rahul, MATSUBARA, Kazuo, McCGARVEY, Michael L, SCHERER, Steven S, BAXTER, Peter S, KING, Mary D, CLAYTON, Peter, RAHMAN, Shamima, REILLY, Mary M, OUVRIER, Robert A, ABRAMS, Alexander J, CHRISTODOULOU, John, ZÜCHNER, Stephan, MUNTONI, Francesco, HOULDEN, Henry, SUGANO, Kumiko, YONEZAWA, Atsushi, MANZUR, Adnan Y, BURNS, Joshua
Published in Brain (London, England : 1878) (01.01.2014)
Published in Brain (London, England : 1878) (01.01.2014)
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Journal Article
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death
Jacquier, Arnaud, Delorme, Cécile, Belotti, Edwige, Juntas-Morales, Raoul, Solé, Guilhem, Dubourg, Odile, Giroux, Marianne, Maurage, Claude-Alain, Castellani, Valérie, Rebelo, Adriana, Abrams, Alexander, Züchner, Stephan, Stojkovic, Tanya, Schaeffer, Laurent, Latour, Philippe
Published in Acta neuropathologica communications (14.07.2017)
Published in Acta neuropathologica communications (14.07.2017)
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Journal Article
Molecular topography of an entire nervous system
Taylor, Seth R., Santpere, Gabriel, Weinreb, Alexis, Barrett, Alec, Reilly, Molly B., Xu, Chuan, Varol, Erdem, Oikonomou, Panos, Glenwinkel, Lori, McWhirter, Rebecca, Poff, Abigail, Basavaraju, Manasa, Rafi, Ibnul, Yemini, Eviatar, Cook, Steven J., Abrams, Alexander, Vidal, Berta, Cros, Cyril, Tavazoie, Saeed, Sestan, Nenad, Hammarlund, Marc, Hobert, Oliver, Miller, David M.
Published in Cell (05.08.2021)
Published in Cell (05.08.2021)
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Journal Article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E
Published in Nature genetics (01.08.2015)
Published in Nature genetics (01.08.2015)
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Journal Article
Expression profiling of the mature C. elegans nervous system by single-cell RNA-Sequencing
Taylor, Seth R, Santpere, Gabriel, Reilly, Molly, Glenwinkel, Lori, Poff, Abigail, Mcwhirter, Rebecca, Xu, Chuan, Weinreb, Alexis, Basavaraju, Manasa, Cook, Steven J, Barrett, Alec, Abrams, Alexander, Vidal, Berta, Cros, Cyril, Ibnul Rafi, Sestan, Nenad, Hammarlund, Marc, Hobert, Oliver, Miller, David M
Published in bioRxiv (16.08.2019)
Published in bioRxiv (16.08.2019)
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Paper
Rheological modifiers for petroleum coke–water slurry
Marchand, David J., Abrams, Alexander, Heiser, Brennan R., Kim, Yongkwang, Kim, Juhoe, Kim, Seong H.
Published in Fuel processing technology (01.04.2016)
Published in Fuel processing technology (01.04.2016)
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Journal Article
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome
Camarena, Vladimir, Cao, Lei, Abad, Clemer, Abrams, Alexander, Toledo, Yaima, Araki, Kimi, Araki, Masatake, Walz, Katherina, Young, Juan I
Published in EMBO molecular medicine (01.08.2014)
Published in EMBO molecular medicine (01.08.2014)
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Journal Article
Effect of Supplemental Vitamin E Form on Serum α-Tocopherol Levels and Blood Oxidative Stress Parameters in Response to a Novel Exercise Challenge
Duberstein, Kylee J., Pazdro, Robert, Lee, Kendall C., Abrams, Alexander, Kane, Ed, Stuart, Robert L.
Published in Journal of equine veterinary science (01.10.2017)
Published in Journal of equine veterinary science (01.10.2017)
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Journal Article
Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder
Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Published in Nature genetics (13.07.2015)
Published in Nature genetics (13.07.2015)
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Journal Article
An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders
Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdulrahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Julia, Dallman, Zuchner, Stephan
Published in Mitochondrion (01.09.2015)
Published in Mitochondrion (01.09.2015)
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Journal Article