Ontology highlight
ABSTRACT:
SUBMITTER: Gulyurtlu S
PROVIDER: S-EPMC9366894 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Gulyurtlu Selma S Magon Monika S MS Guest Patrick P Papavasiliou Panagiotis P PP Morrison Kim D KD Prescott Alan R AR Sleeman Judith E JE
Disease models & mechanisms 20220701 7
RNA regulation in mammalian cells requires complex physical compartmentalisation, using structures thought to be formed by liquid-liquid phase separation. Disruption of these structures is implicated in numerous degenerative diseases. Myotonic dystrophy type 1 (DM1) is a multi-systemic trinucleotide repeat disorder resulting from an expansion of nucleotides CTG (CTGexp) in the DNA encoding DM1 protein kinase (DMPK). The cellular hallmark of DM1 is the formation of nuclear foci that contain expan ...[more]