Ontology highlight
ABSTRACT:
SUBMITTER: Kim PH
PROVIDER: S-EPMC6166472 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Science translational medicine 20180901 460
Hutchinson-Gilford progeria syndrome is a disorder of premature aging in children caused by de novo mutations in <i>LMNA</i> that lead to the synthesis of an internally truncated form of prelamin A (commonly called progerin). The production of progerin causes multiple disease phenotypes, including an unusual vascular phenotype characterized by the loss of smooth muscle cells in the arterial media and fibrosis of the adventitia. We show that progerin expression, combined with mechanical stress, p ...[more]