Ontology highlight
ABSTRACT:
SUBMITTER: Harmon EB
PROVIDER: S-EPMC3220565 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Harmon Erin B EB Harmon Michelle L ML Larsen Tricia D TD Yang Jie J Glasford Joseph W JW Perryman M Benjamin MB
The Journal of biological chemistry 20110926 46
Myotonic dystrophy 1 (DM1) is a multisystemic disease caused by a triplet nucleotide repeat expansion in the 3' untranslated region of the gene coding for myotonic dystrophy protein kinase (DMPK). DMPK is a nuclear envelope (NE) protein that promotes myogenic gene expression in skeletal myoblasts. Muscular dystrophy research has revealed the NE to be a key determinant of nuclear structure, gene regulation, and muscle function. To investigate the role of DMPK in NE stability, we analyzed DMPK exp ...[more]