Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

OPTN (optineurin) is an autophagy receptor and mutations in the OPTN gene result in familial glaucoma (E50K) and amyotrophic lateral sclerosis (ALS) (E478G). However, the mechanisms through which mutant OPTN leads to human diseases remain to be characterized. Here, we demonstrated that OPTN colocali...

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Vydáno v:Autophagy
Hlavní autoři: Shen, Wen-Chuan, Li, Huei-Ying, Chen, Guang-Chao, Chern, Yijuang, Tu, Pang-hsien
Médium: Artigo
Jazyk:Inglês
Vydáno: Taylor & Francis 2015
Témata:
Basic Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4502753/
https://ncbi.nlm.nih.gov/pubmed/25484089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/auto.36098
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