Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

Gordon Holmes syndrome (GHS) is a rare Mendelian neurodegenerative disorder characterized by ataxia and hypogonadism. Recently, it was suggested that disordered ubiquitination underlies GHS though the discovery of exome mutations in the E3 ligase RNF216 and deubiquitinase OTUD4. We performed exome s...

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Bibliografiske detaljer
Main Authors: Shi, Chang-He, Schisler, Jonathan C., Rubel, Carrie E., Tan, Song, Song, Bo, McDonough, Holly, Xu, Lei, Portbury, Andrea L., Mao, Cheng-Yuan, True, Cadence, Wang, Rui-Hao, Wang, Qing-Zhi, Sun, Shi-Lei, Seminara, Stephanie B., Patterson, Cam, Xu, Yu-Ming
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3900109/
https://ncbi.nlm.nih.gov/pubmed/24113144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt497
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