Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviors.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: gain function; lysosome ribosome; circuit; neurodegeneration ... See more keywords
Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Neurodegeneration"
DOI: 10.1186/s13024-019-0310-z
Abstract: BackgroundA G4C2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlying c9FTD/ALS include toxicity from sense G4C2 and… read more here.
Keywords: stress granule; deposition; poly poly; stress ... See more keywords
HDAC6 Interacts With Poly (GA) and Modulates its Accumulation in c9FTD/ALS
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.809942
Abstract: The aberrant translation of a repeat expansion in chromosome 9 open reading frame 72 (C9orf72), the most common cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), results in the accumulation of toxic dipeptide… read more here.
Keywords: hdac6 interacts; interacts poly; c9ftd als; poly modulates ... See more keywords