Article
Costameric integrin and sarcoglycan protein levels are altered in a Drosophila model for Limb-girdle muscular dystrophy type 2H.
Molecular biology of the cell - 1 Feb 2021
Bawa Simranjot, Gameros Samantha, Baumann Kenny, Brooks David S, Kollhoff Joseph A, Zolkiewski Michal, Re Cecconi Andrea David, Panini Nicolò, Russo Massimo, Piccirillo Rosanna, Johnson David K, Kashipathy Maithri M, Battaile Kevin P, Lovell Scott, Bouyain Samuel E A, Kawakami Jessica, Geisbrecht Erika R
Abstract excerpt
Mutations in two different domains of the ubiquitously expressed TRIM32 protein give rise to two clinically separate diseases, one of which is Limb-girdle muscular dystrophy type 2H (LGMD2H). Uncovering the muscle-specific role of TRIM32 in LGMD2H pathogenesis has proven difficult, as neurogenic phenotypes, independent of LGMD2H pathology, are present in TRIM32 KO mice. We previously established a platform to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
