Ontology highlight
ABSTRACT:
SUBMITTER: Green KM
PROVIDER: S-EPMC6901296 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Green Katelyn M KM Sheth Udit J UJ Flores Brittany N BN Wright Shannon E SE Sutter Alexandra B AB Kearse Michael G MG Barmada Sami J SJ Ivanova Magdalena I MI Todd Peter K PK
The Journal of biological chemistry 20191023 49
Repeat-associated non-AUG (RAN) translation is a noncanonical translation initiation event that occurs at nucleotide-repeat expansion mutations that are associated with several neurodegenerative diseases, including fragile X-associated tremor ataxia syndrome (FXTAS), ALS, and frontotemporal dementia (FTD). Translation of expanded repeats produces toxic proteins that accumulate in human brains and contribute to disease pathogenesis. Consequently, RAN translation constitutes a potentially importan ...[more]