Ontology highlight
ABSTRACT:
SUBMITTER: Todd TW
PROVIDER: S-EPMC7480900 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Cell reports 20200501 5
A G<sub>4</sub>C<sub>2</sub> hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG<sub>3</sub>C<sub>2</sub> repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs). Yet, these diseases re ...[more]