Ontology highlight
ABSTRACT:
SUBMITTER: Sellier C
PROVIDER: S-EPMC3639429 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Sellier Chantal C Freyermuth Fernande F Tabet Ricardos R Tran Tuan T He Fang F Ruffenach Frank F Alunni Violaine V Moine Herve H Thibault Christelle C Page Adeline A Tassone Flora F Willemsen Rob R Disney Matthew D MD Hagerman Paul J PJ Todd Peter K PK Charlet-Berguerand Nicolas N
Cell reports 20130307 3
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by the expansion of 55-200 CGG repeats in the 5' UTR of FMR1. These expanded CGG repeats are transcribed and accumulate in nuclear RNA aggregates that sequester one or more RNA-binding proteins, thus impairing their functions. Here, we have identified that the double-stranded RNA-binding protein DGCR8 binds to expanded CGG repeats, resulting in the partial sequestration of DGCR8 and its partner, ...[more]