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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...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Company of Biologists
2011
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| Soggetti: | |
| Accesso online: | 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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