Article
Upregulation of the aging related LMNA splice variant progerin in dilated cardiomyopathy.
PloS one - 1 Jan 2018
Messner Moritz, Ghadge Santhosh Kumar, Goetsch Valentina, Wimmer Andreas, Dörler Jakob, Pölzl Gerhard, Zaruba Marc-Michael
Abstract excerpt
BACKGROUND: Mutations in the LMNA gene are a common cause (6-8%) of dilated cardiomyopathy (DCM) leading to heart failure, a growing health care problem worldwide. The premature aging disease Hutchinson-Gilford syndrome (HGPS) is also caused by defined mutations in the LMNA gene resulting in activation of a cryptic splice donor site leading to a defective truncated prelamin A protein called progerin. Low levels...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.