Ontology highlight
ABSTRACT:
SUBMITTER: Jiang J
PROVIDER: S-EPMC6985338 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20191001 4
In 2011, a hexanucleotide repeat expansion in the first intron of the C9orf72 gene was identified as the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The proposed disease mechanisms include loss of C9orf72 function and gain of toxicity from the bidirectionally transcribed repeat-containing RNAs. Over the last few years, substantial progress has been made to determine the contribution of loss and gain of function in disease pathogenesis. The ...[more]