Ontology highlight
ABSTRACT:
SUBMITTER: Atanasio A
PROVIDER: S-EPMC4793236 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Scientific reports 20160316
The expansion of a hexanucleotide (GGGGCC) repeat in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both the function of C9ORF72 and the mechanism by which the repeat expansion drives neuropathology are unknown. To examine whether C9ORF72 haploinsufficiency induces neurological disease, we created a C9orf72-deficient mouse line. Null mice developed a robust immune phenotype characterized by myeloid expansion, T cell activation, and incr ...[more]