C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS.

ABSTRACT: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of the corticospinal motor neurons, which ultimately leads to death. The repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) represents the most common genetic cause of ALS and it is also involved in the pathogenesis of other neurodegenerative disorders. To offer insights into C9ORF72-mediated pathogenesis, we quantitatively analyzed the proteome of patient-derived primary skin fibroblasts from ALS patients carrying the C9ORF72 mutation compared with ALS patients who tested negative for it. Differentially expressed proteins were identified, used to generate a protein-protein interaction network and subjected to a functional enrichment analysis to un

SUBMITTER: Lualdi M 

PROVIDER: S-EPMC8508815 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature