Associated Papers
Oligomer-dependent and -independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.
Hisatsune C et al.
The Journal of Biological Chemistry, 2026
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Mori-Yoshimura M et al.
Muscle & Nerve, 2017
Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.
Ono Y et al.
The Journal of Biological Chemistry, 2010
20460380 (PubMed )
Supplement: supp_M110.126946_jbc.M110.126946-1.pdf
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
Cobo AM et al.
Human Biology, 2004
[Muscular dystrophy and calpain].
Sorimachi H
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2001
Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A.
Sorimachi H et al.
Methods in Molecular Biology (clifton, N.j.), 2000
Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
Sorimachi H et al.
Advances in Experimental Medicine and Biology, 2000
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
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.
Anderson LV et al.
The American Journal of Pathology, 1998
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
Pénisson-Besnier I et al.
Muscle & Nerve, 1998
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Ono Y et al.
The Journal of Biological Chemistry, 1998
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