Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression

This publication has 33 references indexed in Scilit:

• An efficient procedure for genotyping single nucleotide polymorphisms
  Nucleic Acids Research, 2001
• Mutations in Calpain 3 Associated with Limb Girdle Muscular Dystrophy: Analysis by Molecular Modeling and by Mutation in m-Calpain
  Biophysical Journal, 2001
• Calpain Mutants with Increased Ca2+ Sensitivity and Implications for the Role of the C2-like Domain
  Journal of Biological Chemistry, 2001
• Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated Iκbα/Nuclear Factor κb Pathway Perturbation in Mice
  The Journal of cell biology, 2000
• Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A
  Human Molecular Genetics, 2000
• Calpainopathy—A Survey of Mutations and Polymorphisms
  American Journal of Human Genetics, 1999
• Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A
  The American Journal of Pathology, 1998
• Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
  Muscle & Nerve, 1998
• Juvenile limb-girdle muscular dystrophy
  Brain, 1996
• Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
  Cell, 1995