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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...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Oxford University Press
2014
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| विषय: | |
| ऑनलाइन पहुंच: | 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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