Role of Cdkn2a in the Emery-Dreifuss Muscular Dystrophy Cardiac Phenotype.

ABSTRACT: The Cdkn2a locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in different cellular subtypes. Knock-out (KO) of the entire locus enhances the capability of stem cells to proliferate in some tissues and respond to severe physiological and non-physiological damages in different organs, including the heart. Emery-Dreifuss muscular dystrophy (EDMD) is characterized by severe contractures and muscle loss at the level of skeletal muscles of the elbows, ankles and neck, and by dilated cardiomyopathy. We have recently demonstrated, using the LMNA Δ8-11 murine model of Emery-Dreifuss muscular dystrop

SUBMITTER: Pegoli G 

PROVIDER: S-EPMC8103514 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature