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
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins
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DOI: 10.1126/scitranslmed.abq3215
Abstract: Arginine-rich dipeptide repeat proteins (R-DPRs), abnormal translational products of a GGGGCC hexanucleotide repeat expansion in C9ORF72, play a critical role in C9ORF72-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), the most common genetic form… read more here.
Keywords: rich dipeptide; repeat proteins; repeat; arginine rich ... See more keywords
Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
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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
C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import
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DOI: 10.7554/elife.51685
Abstract: Disruption of nucleocytoplasmic transport is increasingly implicated in the pathogenesis of neurodegenerative diseases, including ALS caused by a C9orf72 hexanucleotide repeat expansion. However, the mechanism(s) remain unclear. Karyopherins, including importin β and its cargo adaptors,… read more here.
Keywords: repeat proteins; c9orf72 arginine; repeat; arginine ... See more keywords