Ontology highlight
ABSTRACT:
SUBMITTER: Ash PE
PROVIDER: S-EPMC3593233 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Ash Peter E A PE Bieniek Kevin F KF Gendron Tania F TF Caulfield Thomas T Lin Wen-Lang WL Dejesus-Hernandez Mariely M van Blitterswijk Marka M MM Jansen-West Karen K Paul Joseph W JW Rademakers Rosa R Boylan Kevin B KB Dickson Dennis W DW Petrucelli Leonard L
Neuron 20130212 4
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating neurodegenerative disorders with clinical, genetic, and neuropathological overlap. Hexanucleotide (GGGGCC) repeat expansions in a noncoding region of C9ORF72 are the major genetic cause of FTD and ALS (c9FTD/ALS). The RNA structure of GGGGCC repeats renders these transcripts susceptible to an unconventional mechanism of translation-repeat-associated non-ATG (RAN) translation. Antibodies generated against putati ...[more]