Ontology highlight
ABSTRACT:
SUBMITTER: Ortega JA
PROVIDER: S-EPMC7272217 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Ortega Juan A JA Daley Elizabeth L EL Kour Sukhleen S Samani Marisa M Tellez Liana L Smith Haley S HS Hall Elizabeth A EA Esengul Y Taylan YT Tsai Yung-Hsu YH Gendron Tania F TF Donnelly Christopher J CJ Siddique Teepu T Savas Jeffrey N JN Pandey Udai B UB Kiskinis Evangelos E
Neuron 20200213 1
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a hexanucleotide repeat expansion in C9orf72 (C9-HRE). While RNA and dipeptide repeats produced by C9-HRE disrupt nucleocytoplasmic transport, the proteins that become redistributed remain unknown. Here, we utilized subcellular fractionation coupled with tandem mass spectrometry and identified 126 proteins, enriched for protein translation and RNA metabolism pathways, which collectively driv ...[more]