Ontology highlight
ABSTRACT:
SUBMITTER: Wang WP
PROVIDER: S-EPMC6996945 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Wang Wan-Ping WP Wang Jing-Ya JY Lin Wen-Hsin WH Kao Cheng-Heng CH Hung Ming-Chun MC Teng Yuan-Chi YC Tsai Ting-Fen TF Chi Ya-Hui YH
Aging cell 20191212 2
Mutations in lamin A (LMNA) are responsible for a variety of human dystrophic and metabolic diseases. Here, we created a mouse model in which progerin, the lamin A mutant protein that causes Hutchinson-Gilford progeria syndrome (HGPS), can be inducibly overexpressed. Muscle-specific overexpression of progerin was sufficient to induce muscular dystrophy and alter whole-body energy expenditure, leading to premature death. Intriguingly, sarcolipin (Sln), an endoplasmic reticulum (ER)-associated pro ...[more]