C9orf72-mediated ALS and FTD: multiple pathways to disease
نویسندگان
چکیده
منابع مشابه
Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD.
C9ORF72 expression is reduced in a substantial number of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), which may contribute to disease pathogenesis. However, its normal molecular function remains unknown. In this issue of The EMBO Journal, Sellier et al (2016) identified a novel protein complex consisting of C9ORF72, WDR41, and SMCR8 that acts as a GDP-GTP...
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Expansion of a GGGGCC repeat in C9orf72 causes amyotrophic lateral sclerosis, frontotemporal dementia, or a combination of both. Bidirectional repeat transcripts sequester RNA-binding proteins into nuclear RNA foci. The repeat is translated into dipeptide repeat (DPR) proteins that are crucial for repeat-induced toxicity. DPRs inhibit the proteasome and sequester other proteins. These changes a...
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ژورنال
عنوان ژورنال: Nature Reviews Neurology
سال: 2018
ISSN: 1759-4758,1759-4766
DOI: 10.1038/s41582-018-0047-2