Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death. BAP31 is encoded by BCAP31, located in human Xq28 and...

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Главные авторы: Cacciagli, Pierre, Sutera-Sardo, Julie, Borges-Correia, Ana, Roux, Jean-Christophe, Dorboz, Imen, Desvignes, Jean-Pierre, Badens, Catherine, Delepine, Marc, Lathrop, Mark, Cau, Pierre, Lévy, Nicolas, Girard, Nadine, Sarda, Pierre, Boespflug-Tanguy, Odile, Villard, Laurent
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2013
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Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769969/
https://ncbi.nlm.nih.gov/pubmed/24011989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.023
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