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Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac271
Abstract: G4C2 repeat expansion in C9orf72 causes the most common familial frontotemporal dementia and amyotrophic lateral sclerosis (C9FTD/ALS). The pathogenesis includes haploinsufficiency of C9orf72, which forms a protein complex with Smcr8, as well as G4C2 repeat-induced…
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Keywords:
gain function;
lysosome ribosome;
circuit;
neurodegeneration ... See more keywords