Article
Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.
Proceedings of the National Academy of Sciences of the United States of America - 10 Jul 2018
Dahl-Halvarsson Martin, Olive Montse, Pokrzywa Malgorzata, Ejeskär Katarina, Palmer Ruth H, Uv Anne Elisabeth, Tajsharghi Homa
Abstract excerpt
Myosin is a molecular motor indispensable for body movement and heart contractility. Apart from pure cardiomyopathy, mutations in MYH7 encoding slow/β-cardiac myosin heavy chain also cause skeletal muscle disease with or without cardiac involvement. Mutations within the α-helical rod domain of MYH7 are mainly associated with Laing distal myopathy. To investigate the mechanisms underlying the pathology of the...
Topics
- Animals
- Disease Models, Animal
- Distal Myopathies
- Drosophila Proteins
- Drosophila melanogaster
- Genetic Loci
- Homozygote
- Humans
- Mutation
- Myocardium
- Myosin Heavy Chains
- Tripartite Motif Proteins