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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:eLife
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: eLife Sciences Publications, Ltd 2015
Aiheet:
Neuroscience
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia