C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy

A GGGGCC hexanucleotide repeat expansion in the first intron of the C9orf72 gene is the most common genetic defect associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (C9ALS/FTD). Haploinsufficiency and a resulting loss of C9orf72 protein function has been suggested...

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Bibliographic Details
Published in:Small GTPases
Main Authors: Webster, Christopher P., Smith, Emma F., Grierson, Andrew J., De Vos, Kurt J.
Format: Artigo
Language:Inglês
Published: Taylor & Francis 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5997165/
https://ncbi.nlm.nih.gov/pubmed/27768524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21541248.2016.1240495
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