α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells

2009/04/22 by Drieke Vandamme, Ellen Lambert, Davy Waterschoot +6 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Actin #Anatomy #Biology #Biopsy #Bleb (medicine) #Cardiomyopathy and Myosin Studies #Cell biology #Congenital myopathy #Genetic Neurodegenerative Diseases #Medicine #Muscle Physiology and Disorders #Muscle biopsy #Muscle weakness #Myocyte #Myofilament #Myogenesis #Nebulin #Nemaline myopathy #Neuroscience #Pathology #Sarcomere #Skeletal muscle #Titin

paper · pdf · doi:10.1016/j.bbamcr.2009.04.004

openalex publication_date 2009/04/22 · crossref created 2009/04/22 · crossref issued 2009/07/01 · crossref published 2009/07/01 · crossref published-print 2009/07/01 · openalex created_date 2016/06/24 · crossref deposited 2021/10/04 · crossref indexed 2025/10/18 · openalex updated_date 2026/08/02

Citations

• Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes
• Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
• A non-apoptotic role for caspase-9 in muscle differentiation
• Actin Interacts with CCT via Discrete Binding Sites: A Binding transition-release Model for CCT-Mediated Actin Folding
• A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia
• Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Cited by

• Actin [wikipedia]