Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches
Pinto, Ricardo Mouro, Dragileva, Ella, Kirby, Andrew, Lloret, Alejandro, Lopez, Edith, St Claire, Jason, Panigrahi, Gagan B, Hou, Caixia, Holloway, Kim, Gillis, Tammy, Guide, Jolene R, Cohen, Paula E, Li, Guo-Min, Pearson, Christopher E, Daly, Mark J, Wheeler, Vanessa C
Published in PLoS genetics (01.10.2013)
Published in PLoS genetics (01.10.2013)
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Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1
Mouro Pinto, Ricardo, Arning, Larissa, Giordano, James V, Razghandi, Pedram, Andrew, Marissa A, Gillis, Tammy, Correia, Kevin, Mysore, Jayalakshmi S, Grote Urtubey, Debora-M, Parwez, Constanze R, von Hein, Sarah M, Clark, H Brent, Nguyen, Huu Phuc, Förster, Eckart, Beller, Allison, Jayadaev, Suman, Keene, C Dirk, Bird, Thomas D, Lucente, Diane, Vonsattel, Jean-Paul, Orr, Harry, Saft, Carsten, Petrasch-Parwez, Elisabeth, Wheeler, Vanessa C
Published in Human molecular genetics (29.08.2020)
Published in Human molecular genetics (29.08.2020)
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A modifier of Huntington's disease onset at the MLH1 locus
Lee, Jong-Min, Chao, Michael J, Harold, Denise, Abu Elneel, Kawther, Gillis, Tammy, Holmans, Peter, Jones, Lesley, Orth, Michael, Myers, Richard H, Kwak, Seung, Wheeler, Vanessa C, MacDonald, Marcy E, Gusella, James F
Published in Human molecular genetics (01.10.2017)
Published in Human molecular genetics (01.10.2017)
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Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out
Loupe, Jacob M, Pinto, Ricardo Mouro, Kim, Kyung-Hee, Gillis, Tammy, Mysore, Jayalakshmi S, Andrew, Marissa A, Kovalenko, Marina, Murtha, Ryan, Seong, IhnSik, Gusella, James F, Kwak, Seung, Howland, David, Lee, Ramee, Lee, Jong-Min, Wheeler, Vanessa C, MacDonald, Marcy E
Published in Human molecular genetics (04.11.2020)
Published in Human molecular genetics (04.11.2020)
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Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection
Roy, Jennie C L, Vitalo, Antonia, Andrew, Marissa A, Mota-Silva, Eduarda, Kovalenko, Marina, Burch, Zoe, Nhu, Anh M, Cohen, Paula E, Grabczyk, Ed, Wheeler, Vanessa C, Mouro Pinto, Ricardo
Published in Nucleic acids research (19.04.2021)
Published in Nucleic acids research (19.04.2021)
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Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
Blumenthal, Ian, Ragavendran, Ashok, Erdin, Serkan, Klei, Lambertus, Sugathan, Aarathi, Guide, Jolene R., Manavalan, Poornima, Zhou, Julian Q., Wheeler, Vanessa C., Levin, Joshua Z., Ernst, Carl, Roeder, Kathryn, Devlin, Bernie, Gusella, James F., Talkowski, Michael E.
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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CAG repeat expansion in the Huntington’s disease gene shapes linear and circular RNAs biogenesis
Ayyildiz, Dilara, Bergonzoni, Guendalina, Monziani, Alan, Tripathi, Takshashila, Döring, Jessica, Kerschbamer, Emanuela, Di Leva, Francesca, Pennati, Elia, Donini, Luisa, Kovalenko, Marina, Zasso, Jacopo, Conti, Luciano, Wheeler, Vanessa C, Dieterich, Christoph, Piazza, Silvano, Dassi, Erik, Biagioli, Marta
Published in PLoS genetics (13.10.2023)
Published in PLoS genetics (13.10.2023)
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Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models
Mochel, Fanny, Durant, Brandon, Meng, Xingli, O'Callaghan, James, Yu, Hua, Brouillet, Emmanuel, Wheeler, Vanessa C., Humbert, Sandrine, Schiffmann, Raphael, Durr, Alexandra
Published in The Journal of biological chemistry (06.01.2012)
Published in The Journal of biological chemistry (06.01.2012)
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Population-specific genetic modification of Huntington's disease in Venezuela
Chao, Michael J, Kim, Kyung-Hee, Shin, Jun Wan, Lucente, Diane, Wheeler, Vanessa C, Li, Hong, Roach, Jared C, Hood, Leroy, Wexler, Nancy S, Jardim, Laura B, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min
Published in PLoS genetics (11.05.2018)
Published in PLoS genetics (11.05.2018)
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Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat
McLean, Zachariah L, Gao, Dadi, Correia, Kevin, Roy, Jennie C L, Shibata, Shota, Farnum, Iris N, Valdepenas-Mellor, Zoe, Kovalenko, Marina, Rapuru, Manasa, Morini, Elisabetta, Ruliera, Jayla, Gillis, Tammy, Lucente, Diane, Kleinstiver, Benjamin P, Lee, Jong-Min, MacDonald, Marcy E, Wheeler, Vanessa C, Mouro Pinto, Ricardo, Gusella, James F
Published in Nature communications (12.04.2024)
Published in Nature communications (12.04.2024)
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Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease
Choi, Doo Eun, Shin, Jun Wan, Zeng, Sophia, Hong, Eun Pyo, Jang, Jae-Hyun, Loupe, Jacob M, Wheeler, Vanessa C, Stutzman, Hannah E, Kleinstiver, Ben, Lee, Jong-Min
Published in eLife (13.06.2024)
Published in eLife (13.06.2024)
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Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice
Kovalenko, Marina, Dragileva, Ella, St Claire, Jason, Gillis, Tammy, Guide, Jolene R, New, Jaclyn, Dong, Hualing, Kucherlapati, Raju, Kucherlapati, Melanie H, Ehrlich, Michelle E, Lee, Jong-Min, Wheeler, Vanessa C
Published in PloS one (07.09.2012)
Published in PloS one (07.09.2012)
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Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver
Lee, Jong-Min, Pinto, Ricardo Mouro, Gillis, Tammy, St Claire, Jason C, Wheeler, Vanessa C
Published in PloS one (29.08.2011)
Published in PloS one (29.08.2011)
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Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice
Goula, Agathi-Vassiliki, Berquist, Brian R, Wilson, 3rd, David M, Wheeler, Vanessa C, Trottier, Yvon, Merienne, Karine
Published in PLoS genetics (01.12.2009)
Published in PLoS genetics (01.12.2009)
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Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes
Dragileva, Ella, Hendricks, Audrey, Teed, Allison, Gillis, Tammy, Lopez, Edith T, Friedberg, Errol C, Kucherlapati, Raju, Edelmann, Winfried, Lunetta, Kathryn L, MacDonald, Marcy E, Wheeler, Vanessa C
Published in Neurobiology of disease (01.01.2009)
Published in Neurobiology of disease (01.01.2009)
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Huntingtin facilitates polycomb repressive complex 2
Seong, Ihn Sik, Woda, Juliana M., Song, Ji-Joon, Lloret, Alejandro, Abeyrathne, Priyanka D., Woo, Caroline J., Gregory, Gillian, Lee, Jong-Min, Wheeler, Vanessa C., Walz, Thomas, Kingston, Robert E., Gusella, James F., Conlon, Ronald A., MacDonald, Marcy E.
Published in Human molecular genetics (15.02.2010)
Published in Human molecular genetics (15.02.2010)
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Journal Article
Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice
Kovalenko, Marina, Erdin, Serkan, Andrew, Marissa A, St Claire, Jason, Shaughnessey, Melissa, Hubert, Leroy, Neto, João Luís, Stortchevoi, Alexei, Fass, Daniel M, Mouro Pinto, Ricardo, Haggarty, Stephen J, Wilson, John H, Talkowski, Michael E, Wheeler, Vanessa C
Published in eLife (29.09.2020)
Published in eLife (29.09.2020)
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Journal Article
Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice
Guidetti, Paolo, Bates, Gillian P., Graham, Rona K., Hayden, Michael R., Leavitt, Blair R., MacDonald, Marcy E., Slow, Elizabeth J., Wheeler, Vanessa C., Woodman, Ben, Schwarcz, Robert
Published in Neurobiology of disease (01.07.2006)
Published in Neurobiology of disease (01.07.2006)
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A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice
Hölter, Sabine M, Stromberg, Mary, Kovalenko, Marina, Garrett, Lillian, Glasl, Lisa, Lopez, Edith, Guide, Jolene, Götz, Alexander, Hans, Wolfgang, Becker, Lore, Rathkolb, Birgit, Rozman, Jan, Schrewed, Anja, Klingenspor, Martin, Klopstock, Thomas, Schulz, Holger, Wolf, Eckhard, Wursta, Wolfgang, Gillis, Tammy, Wakimoto, Hiroko, Seidman, Jonathan, MacDonald, Marcy E, Cotman, Susan, Gailus-Durner, Valérie, Fuchs, Helmut, de Angelis, Martin Hrabě, Lee, Jong-Min, Wheeler, Vanessa C
Published in PloS one (22.11.2013)
Published in PloS one (22.11.2013)
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Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
Campion, Lindsey N, Mejia Maza, Alan, Yadav, Rachita, Penney, Ellen B, Murcar, Micaela G, Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M Salvie, Legarda, G Paul, Ganza-Bautista, Niecy G, Lagarde, J Benedict B, Acuña, Patrick J, Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L, De Guzman, Jan K, Go, Criscely, Sharma, Nutan, Munoz, Edwin L, Ang, Mark C, Diesta, Cid Czarina E, Bragg, D Cristopher, Ozelius, Laurie J, Wheeler, Vanessa C
Published in Acta neuropathologica communications (08.04.2022)
Published in Acta neuropathologica communications (08.04.2022)
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