NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

The brain is sensitive to the dose of MeCP2 such that small fluctuations in protein quantity lead to neuropsychiatric disease. Despite the importance of MeCP2 levels to brain function, little is known about its regulation. In this study, we report eleven individuals with neuropsychiatric disease and...

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Dades bibliogràfiques
Publicat a:eLife
Autors principals: Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y
Format: Artigo
Idioma:Inglês
Publicat: eLife Sciences Publications, Ltd 2015
Matèries:
Neuroscience
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4586391/
https://ncbi.nlm.nih.gov/pubmed/26312503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.10782
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