Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Gene Yeo
PROVIDER: E-GEOD-51685 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Proceedings of the National Academy of Sciences of the United States of America 20131029 47
Expanded hexanucleotide repeats in the chromosome 9 open reading frame 72 (C9orf72) gene are the most common genetic cause of ALS and frontotemporal degeneration (FTD). Here, we identify nuclear RNA foci containing the hexanucleotide expansion (GGGGCC) in patient cells, including white blood cells, fibroblasts, glia, and multiple neuronal cell types (spinal motor, cortical, hippocampal, and cerebellar neurons). RNA foci are not present in sporadic ALS, familial ALS/FTD caused by other mutations ...[more]