Ontology highlight
ABSTRACT:
SUBMITTER: Zhou B
PROVIDER: S-EPMC4643247 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Zhou Bo B Liu Changdong C Geng Yanyan Y Zhu Guang G
Scientific reports 20151113
Abnormal expansions of an intronic hexanucleotide GGGGCC (G4C2) repeat of the C9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Previous studies suggested that the C9orf72 hexanucleotide repeat expansion (HRE), either as DNA or the transcribed RNA, can fold into G-quadruplexes with distinct structures. These structural polymorphisms lead to abortive transcripts and contribute to the pathogenesis of ALS and FTD. Using circular ...[more]