Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

2003/08/12 by John C. Sparrow, Kristen J. Nowak, Hayley J. Durling +7 · 4 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Actin #Anatomy #Biology #Cardiomyopathy and Myosin Studies #Cellular Mechanics and Interactions #Congenital myopathy #Gene #Genetics #Medicine #Missense mutation #Muscle Physiology and Disorders #Muscle biopsy #Mutation #Myofilament #Myopathy #Nemaline myopathy #Pathology #Phenotype #Skeletal muscle

paper · doi:10.1016/s0960-8966(03)00101-9

openalex publication_date 2003/08/12 · crossref created 2003/08/12 · crossref issued 2003/09/01 · crossref published 2003/09/01 · crossref published-print 2003/09/01 · crossref deposited 2021/06/10 · openalex created_date 2025/10/10 · crossref indexed 2026/06/18 · openalex updated_date 2026/07/28

Citations

• The structure of crystalline profilin–β-actin
• Atomic model of the actin filament
• The Crystal Structure of Uncomplexed Actin in the ADP State
• Atomic structure of the actin: DNase I complex
• Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure

Cited by

• Chapter 6 Cell and Molecular Biology of Nuclear Actin
• Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes
• α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells
• Actin [wikipedia]