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Mutations associated with Charcot–Marie–Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome–autophagy pathways

Mutations in SIMPLE cause an autosomal dominant, demyelinating form of peripheral neuropathy termed Charcot–Marie–Tooth disease type 1C (CMT1C), but the pathogenic mechanisms of these mutations remain unknown. Here, we report that SIMPLE is an early endosomal membrane protein that is highly expresse...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Lee, Samuel M., Olzmann, James A., Chin, Lih-Shen, Li, Lian
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Company of Biologists 2011
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3178453/
https://ncbi.nlm.nih.gov/pubmed/21896645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.087114
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