Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Christopher Donnelly
PROVIDER: E-MTAB-1926 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Donnelly Christopher J CJ Zhang Ping-Wu PW Pham Jacqueline T JT Haeusler Aaron R AR Mistry Nipun A NA Vidensky Svetlana S Daley Elizabeth L EL Poth Erin M EM Hoover Benjamin B Fines Daniel M DM Maragakis Nicholas N Tienari Pentti J PJ Petrucelli Leonard L Traynor Bryan J BJ Wang Jiou J Rigo Frank F Bennett C Frank CF Blackshaw Seth S Sattler Rita R Rothstein Jeffrey D JD
Neuron 20131001 2
A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72 gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The function of the C9ORF72 protein is unknown, as is the mechanism by which the repeat expansion could cause disease. Induced pluripotent stem cell (iPSC)-differentiated neurons from C9ORF72 ALS patients revealed disease-specific (1) intranuclear GGGGCCexp RNA foci, (2) dysregul ...[more]