Ontology highlight
ABSTRACT:
SUBMITTER: Kramer NJ
PROVIDER: S-EPMC5893388 | biostudies-other | 2018 Apr
REPOSITORIES: biostudies-other
Nature genetics 20180305 4
Hexanucleotide-repeat expansions in the C9ORF72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). The nucleotide-repeat expansions are translated into dipeptide-repeat (DPR) proteins, which are aggregation prone and may contribute to neurodegeneration. We used the CRISPR-Cas9 system to perform genome-wide gene-knockout screens for suppressors and enhancers of C9ORF72 DPR toxicity in human cells. We validated hits by performing secondary CRIS ...[more]