A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures

Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency of its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration in mice....

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Опубликовано в: :Cell
Главные авторы: Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5832058/
https://ncbi.nlm.nih.gov/pubmed/29474920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2018.02.006
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