Article
Actin-organising properties of the muscular dystrophy protein myotilin.
Experimental cell research - 15 Oct 2005
von Nandelstadh Pernilla, Grönholm Mikaela, Moza Monica, Lamberg Arja, Savilahti Harri, Carpén Olli
Abstract excerpt
Myotilin is a sarcomeric Z-disc protein that binds F-actin directly and bundles actin filaments, although it does not contain a conventional actin-binding domain. Expression of mutant myotilin leads to sarcomeric alterations in the dominantly inherited limb-girdle muscular dystrophy 1A and in myofibrillar myopathy/desmin-related myopathy. Together, with previous in vitro studies, this indicates that myotilin has...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
