Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Gain-of function mutations in some genes underlie neurodegenerative conditions whereas loss-of-function mutations have distinct phenotypes. Such appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain-of-function of the compl...

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Wydane w:Nat Genet
Główni autorzy: Lu, Hsiang-Chih, Tan, Qiumin, Rousseaux, Maxime WC, Wang, Wei, Kim, Ji-Yoen, Richman, Ronald, Wan, Ying-Wooi, Yeh, Szu-Ying, Patel, Jay M, Liu, Xiuyun, Lin, Tao, Lee, Yoontae, Fryer, John D, Han, Jing, Chahrour, Maria, Finnell, Richard H, Lei, Yunping, Zurita-Jimenez, Maria E, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Van Maldergem, Lionel, Lehalle, Daphne, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Thevenon, Julien, Cousin, Margot A, Bro, Della E, Lanpher, Brendan C, Klee, Eric W, Alexander, Nora, Bainbridge, Matthew N, Orr, Harry T, Sillitoe, Roy V, Ljungberg, M. Cecilia, Liu, Zhandong, Schaaf, Christian P, Zoghbi, Huda Y
Format: Artigo
Język:Inglês
Wydane: 2017
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5374026/
https://ncbi.nlm.nih.gov/pubmed/28288114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3808
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