Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
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DOI: 10.1016/j.neuron.2020.04.011
Abstract: GGGGCC hexanucleotide repeat expansions (HREs) in C9orf72 cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and lead to the production of aggregating dipeptide repeat proteins (DPRs) via repeat associated non-AUG (RAN) translation. Here, we show… read more here.
Keywords: c9als ftd; dipeptide repeat; ftd sca36; pathology ... See more keywords
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
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DOI: 10.1093/brain/awx024
Abstract: A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), however, the precise molecular mechanism by which the C9orf72 hexanucleotide… read more here.
Keywords: c9orf72 rab7l1; c9orf72; c9als ftd; vesicle trafficking ... See more keywords
Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
Sign Up to like & getrecommendations! Published in 2017 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.201607486
Abstract: The C9orf72 GGGGCC repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). Non‐conventional repeat translation results in five dipeptide repeat proteins (DPRs), but their clinical utility, overall significance, and temporal… read more here.
Keywords: c9als ftd; dipeptide repeat; expression; poly levels ... See more keywords