3.4.22.54 Autosomal Emery-Dreifuss Muscular Dystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Brain Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11807032&form=6&db=m The Drosophila melanogaster gene brain tumor negatively regulates cell growth and ribosomal RNA synthesis. causal interaction,unassigned 1,0 3.4.22.54 Brain Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18528333&form=6&db=m Mei-P26 regulates microRNAs and cell growth in the Drosophila ovarian stem cell lineage. ongoing research,unassigned 3,0 3.4.22.54 Bulbo-Spinal Atrophy, X-Linked http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 calpain 8 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22825607&form=6&db=m Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,3,3,1 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9309711&form=6&db=m Calpain-3 deficiency causes a mild muscular dystrophy in childhood. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10229226&form=6&db=m Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. causal interaction,unassigned 1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10567047&form=6&db=m Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11134085&form=6&db=m Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice. causal interaction,ongoing research,unassigned 1,1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11245721&form=6&db=m Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. causal interaction,diagnostic usage,unassigned 3,3,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11294923&form=6&db=m Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11485017&form=6&db=m Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. unassigned - 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12672459&form=6&db=m Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle. causal interaction,diagnostic usage,ongoing research,unassigned 2,3,3,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12890817&form=6&db=m The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14705129&form=6&db=m Calpain 3 deficiency in Quail Eater's disease. unassigned - 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15221789&form=6&db=m Molecular diagnosis in LGMD2A: mutation analysis or protein testing? causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,1,1 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15498466&form=6&db=m Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice. causal interaction,unassigned 2,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15694138&form=6&db=m Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16100969&form=6&db=m Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach. causal interaction,diagnostic usage,unassigned 4,4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16542520&form=6&db=m Early onset calpainopathy with normal non-functional calpain 3 level. therapeutic application,unassigned 1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16884488&form=6&db=m Calpain 3: a key regulator of the sarcomere? causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17196410&form=6&db=m Childhood dermatomyositis associated with intracranial tumor and liver cysts. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17596655&form=6&db=m Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy. causal interaction,diagnostic usage,ongoing research,unassigned 3,1,3,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17702496&form=6&db=m Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. causal interaction,ongoing research,unassigned 4,1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17994539&form=6&db=m Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. causal interaction,unassigned 2,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18073330&form=6&db=m NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19483197&form=6&db=m Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19490426&form=6&db=m CALPAIN 3 DEFICIENCY PRESENTING AS FIBER TYPE DISPROPORTION. unassigned - 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20634290&form=6&db=m Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20739790&form=6&db=m Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. causal interaction,diagnostic usage,unassigned 2,3,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21496626&form=6&db=m Limb-girdle muscular dystrophy 2A. causal interaction,unassigned 3,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22825607&form=6&db=m Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,3,3,1 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22931740&form=6&db=m Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. causal interaction,unassigned 1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23414389&form=6&db=m Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study. causal interaction,unassigned 3,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23553538&form=6&db=m Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25079074&form=6&db=m Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25877298&form=6&db=m CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. causal interaction,unassigned 4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25900067&form=6&db=m Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls. causal interaction,diagnostic usage,unassigned 4,4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26581302&form=6&db=m A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. causal interaction,unassigned 3,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27055500&form=6&db=m Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. causal interaction,diagnostic usage,unassigned 4,4,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33205074&form=6&db=m A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy. causal interaction,unassigned 1,0 3.4.22.54 calpain-3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33308300&form=6&db=m Mitochondrial dysfunction and consequences in calpain-3-deficient muscle. causal interaction,unassigned 4,0 3.4.22.54 Carcinogenesis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20421977&form=6&db=m Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,4,2 3.4.22.54 Cardiotoxicity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23908349&form=6&db=m Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. causal interaction,diagnostic usage,ongoing research,therapeutic application 1,3,4,2 3.4.22.54 Cardiotoxicity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31776291&form=6&db=m Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A. causal interaction,ongoing research,therapeutic application,unassigned 4,3,3,0 3.4.22.54 Cataract http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17151322&form=6&db=m Calpains and their multiple roles in diabetes mellitus. causal interaction,ongoing research,unassigned 2,1,0 3.4.22.54 Cataract http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17525200&form=6&db=m Age-related cataracts in alpha3Cx46-knockout mice are dependent on a calpain 3 isoform. causal interaction,ongoing research,therapeutic application,unassigned 3,1,1,0 3.4.22.54 Contracture http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15694138&form=6&db=m Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 Contracture http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26581302&form=6&db=m A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. causal interaction,unassigned 3,0 3.4.22.54 Cysts http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17196410&form=6&db=m Childhood dermatomyositis associated with intracranial tumor and liver cysts. causal interaction,unassigned 4,0 3.4.22.54 Diabetes Mellitus, Type 2 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17305703&form=6&db=m Characterization of GLUT4 and calpain expression in healthy human skeletal muscle during fasting and refeeding. causal interaction,therapeutic application,unassigned 1,1,0 3.4.22.54 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11829483&form=6&db=m The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. causal interaction,ongoing research,unassigned 1,2,0 3.4.22.54 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16115818&form=6&db=m Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. causal interaction,ongoing research,unassigned 1,3,0 3.4.22.54 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19048948&form=6&db=m [Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy] diagnostic usage,unassigned 2,0 3.4.22.54 Dyspnea http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29685414&form=6&db=m A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. causal interaction,unassigned 4,0 3.4.22.54 endopeptidase la deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20860623&form=6&db=m A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-?B pathway in skeletal muscle. causal interaction,therapeutic application,unassigned 2,1,0 3.4.22.54 Epilepsy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31011535&form=6&db=m Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3. causal interaction,unassigned 4,0 3.4.22.54 Epilepsy, Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31011535&form=6&db=m Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3. causal interaction,unassigned 4,0 3.4.22.54 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18073330&form=6&db=m NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. causal interaction,unassigned 4,0 3.4.22.54 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19015733&form=6&db=m Gene expression profiling in limb-girdle muscular dystrophy 2A. causal interaction,unassigned 4,0 3.4.22.54 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20592470&form=6&db=m Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy. causal interaction,unassigned 4,0 3.4.22.54 Glioma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23248157&form=6&db=m KDM1 is a novel therapeutic target for the treatment of gliomas. causal interaction,ongoing research,therapeutic application,unassigned 3,4,1,0 3.4.22.54 Glycogen Storage Disease Type II http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31931849&form=6&db=m The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. ongoing research,unassigned 1,0 3.4.22.54 Hereditary Sensory and Motor Neuropathy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30585608&form=6&db=m [Coincidence of hereditary motor and sensory neuropathy type 1A and limb lumbo-muscular dystrophy type 2A]. causal interaction,unassigned 2,0 3.4.22.54 Infections http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25170071&form=6&db=m Muscle-specific calpastatin overexpression prevents diaphragm weakness in cecal ligation puncture-induced sepsis. causal interaction,therapeutic application,unassigned 4,3,0 3.4.22.54 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12075569&form=6&db=m Calpain 3 gene expression in skeletal muscle is associated with body fat content and measures of insulin resistance. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,2,4,1 3.4.22.54 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17305703&form=6&db=m Characterization of GLUT4 and calpain expression in healthy human skeletal muscle during fasting and refeeding. causal interaction,therapeutic application,unassigned 1,1,0 3.4.22.54 Liposarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21533183&form=6&db=m DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,1,1,1 3.4.22.54 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14755246&form=6&db=m Generation and analysis of melanoma SAGE libraries: SAGE advice on the melanoma transcriptome. unassigned - 3.4.22.54 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19100317&form=6&db=m Gene expression analysis of terminal differentiation of human melanoma cells highlights global reductions in cell cycle-associated genes. causal interaction,therapeutic application,unassigned 1,1,0 3.4.22.54 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19386580&form=6&db=m Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions. causal interaction,ongoing research,therapeutic application,unassigned 4,4,1,0 3.4.22.54 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20421977&form=6&db=m Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,4,2 3.4.22.54 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24126726&form=6&db=m Platelet-derived growth factor C and calpain-3 are modulators of human melanoma cell invasiveness. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,3,1 3.4.22.54 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25658320&form=6&db=m Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,4,0 3.4.22.54 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26489459&form=6&db=m New Functional Signatures for Understanding Melanoma Biology from Tumor Cell Lineage-Specific Analysis. diagnostic usage,ongoing research,unassigned 3,1,0 3.4.22.54 Mitochondrial Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33304817&form=6&db=m Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. causal interaction,diagnostic usage,unassigned 3,4,0 3.4.22.54 Muscle Weakness http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25170071&form=6&db=m Muscle-specific calpastatin overexpression prevents diaphragm weakness in cecal ligation puncture-induced sepsis. causal interaction,therapeutic application,unassigned 4,3,0 3.4.22.54 Muscle Weakness http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27259757&form=6&db=m A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. causal interaction,ongoing research,therapeutic application,unassigned 1,2,1,0 3.4.22.54 Muscular Atrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8550842&form=6&db=m Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice. diagnostic usage,unassigned 2,0 3.4.22.54 Muscular Atrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Muscular Atrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12502777&form=6&db=m Cloning of a muscle-specific calpain from the American lobster Homarus americanus: expression associated with muscle atrophy and restoration during moulting. unassigned - 3.4.22.54 Muscular Atrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12707983&form=6&db=m Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption. causal interaction,unassigned 2,0 3.4.22.54 Muscular Atrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26569227&form=6&db=m Calpain 3 Expression Pattern during Gastrocnemius Muscle Atrophy and Regeneration Following Sciatic Nerve Injury in Rats. causal interaction,ongoing research,therapeutic application,unassigned 4,4,4,0 3.4.22.54 Muscular Atrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29783071&form=6&db=m MEF2A regulates Calpain 3 expression in L6 myoblasts. causal interaction,unassigned 3,0 3.4.22.54 Muscular Atrophy, Spinal http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10814721&form=6&db=m 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. causal interaction,ongoing research,unassigned 3,3,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11053681&form=6&db=m Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). diagnostic usage,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11245721&form=6&db=m Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. causal interaction,diagnostic usage,unassigned 3,3,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15221789&form=6&db=m Molecular diagnosis in LGMD2A: mutation analysis or protein testing? causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,1,1 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18854869&form=6&db=m How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. diagnostic usage,ongoing research,unassigned 3,2,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19380703&form=6&db=m Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. ongoing research,unassigned 2,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22975586&form=6&db=m Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-?B Signaling. diagnostic usage,unassigned 4,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27081656&form=6&db=m Natural history of LGMD2A for delineating outcome measures in clinical trials. causal interaction,unassigned 4,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28915917&form=6&db=m Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. causal interaction,unassigned 2,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30323756&form=6&db=m Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. causal interaction,unassigned 3,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31555977&form=6&db=m European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). causal interaction,unassigned 4,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33304817&form=6&db=m Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. causal interaction,diagnostic usage,unassigned 3,4,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33386810&form=6&db=m Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. causal interaction,unassigned 1,0 3.4.22.54 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33741228&form=6&db=m Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion. diagnostic usage,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8537379&form=6&db=m Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. therapeutic application,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9027855&form=6&db=m Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9309711&form=6&db=m Calpain-3 deficiency causes a mild muscular dystrophy in childhood. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10098143&form=6&db=m [Current diagnosis in muscular dystrophies. New developments, methods of examination and case examples] causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10607827&form=6&db=m Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes. therapeutic application,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10814721&form=6&db=m 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. causal interaction,ongoing research,unassigned 3,3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838251&form=6&db=m Calpain3 expression during human cardiogenesis. causal interaction,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11053681&form=6&db=m Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). diagnostic usage,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11134085&form=6&db=m Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice. causal interaction,ongoing research,unassigned 1,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11166165&form=6&db=m Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11294923&form=6&db=m Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11350751&form=6&db=m Calpain 3 mRNA expression in mice after denervation and during muscle regeneration. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11371436&form=6&db=m Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11829483&form=6&db=m The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. causal interaction,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12482600&form=6&db=m The protease core of the muscle-specific calpain, p94, undergoes Ca2+-dependent intramolecular autolysis. ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12672459&form=6&db=m Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle. causal interaction,diagnostic usage,ongoing research,unassigned 2,3,3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12890817&form=6&db=m The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14645524&form=6&db=m Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15073171&form=6&db=m Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15138196&form=6&db=m Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15221789&form=6&db=m Molecular diagnosis in LGMD2A: mutation analysis or protein testing? causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,1,1 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15336956&form=6&db=m Calpain-related diseases. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15689361&form=6&db=m LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. diagnostic usage,ongoing research,unassigned 3,3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15694138&form=6&db=m Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15843148&form=6&db=m Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. causal interaction,diagnostic usage,unassigned 1,3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15884399&form=6&db=m [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family] causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16100770&form=6&db=m Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis. ongoing research,therapeutic application,unassigned 3,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16115818&form=6&db=m Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. causal interaction,ongoing research,unassigned 1,3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16290124&form=6&db=m Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. causal interaction,ongoing research,therapeutic application,unassigned 4,3,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16533054&form=6&db=m Ca(2+) Dependency of Calpain 3 (p94) Activation. causal interaction,therapeutic application,unassigned 2,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16542520&form=6&db=m Early onset calpainopathy with normal non-functional calpain 3 level. therapeutic application,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16816913&form=6&db=m Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype? causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16884488&form=6&db=m Calpain 3: a key regulator of the sarcomere? causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16934440&form=6&db=m Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16971480&form=6&db=m Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. causal interaction,diagnostic usage,unassigned 3,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16982691&form=6&db=m Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiation. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17051641&form=6&db=m Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17157502&form=6&db=m Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. diagnostic usage,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17258832&form=6&db=m Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17318636&form=6&db=m A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. causal interaction,ongoing research,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17702496&form=6&db=m Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. causal interaction,ongoing research,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18055493&form=6&db=m Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. diagnostic usage,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18310072&form=6&db=m Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18563459&form=6&db=m Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,1,2,3 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18676612&form=6&db=m Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18974005&form=6&db=m Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19143834&form=6&db=m Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. therapeutic application,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19483197&form=6&db=m Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19835634&form=6&db=m Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19926129&form=6&db=m A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a. causal interaction,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20139084&form=6&db=m Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20477750&form=6&db=m Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20580976&form=6&db=m Calpainopathy presenting as foot drop in a 41 year old. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20592470&form=6&db=m Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20694146&form=6&db=m Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20739790&form=6&db=m Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. causal interaction,diagnostic usage,unassigned 2,3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20860623&form=6&db=m A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-?B pathway in skeletal muscle. causal interaction,therapeutic application,unassigned 2,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21295580&form=6&db=m Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21533183&form=6&db=m DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,1,1,1 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21624972&form=6&db=m Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22057634&form=6&db=m Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. diagnostic usage,ongoing research,unassigned 1,4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22158424&form=6&db=m CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22311686&form=6&db=m An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22443334&form=6&db=m Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22505582&form=6&db=m Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22622166&form=6&db=m Late-onset axial myopathy and camptocormia in a calpainopathy carrier. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22825607&form=6&db=m Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,3,3,1 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22931740&form=6&db=m Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23300487&form=6&db=m Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD). causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24715573&form=6&db=m Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A. causal interaction,ongoing research,unassigned 3,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26569227&form=6&db=m Calpain 3 Expression Pattern during Gastrocnemius Muscle Atrophy and Regeneration Following Sciatic Nerve Injury in Rats. causal interaction,ongoing research,therapeutic application,unassigned 4,4,4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26581302&form=6&db=m A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26677118&form=6&db=m Limb-girdle muscular dystrophy type 2A in Brazilian children. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26913171&form=6&db=m Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27020652&form=6&db=m Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. causal interaction,ongoing research,therapeutic application,unassigned 3,1,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27055500&form=6&db=m Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. causal interaction,diagnostic usage,unassigned 4,4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27259757&form=6&db=m A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. causal interaction,ongoing research,therapeutic application,unassigned 1,2,1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27262448&form=6&db=m Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28602176&form=6&db=m Calpainopathy with macrophage-rich, regional inflammatory infiltrates. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28881388&form=6&db=m Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21. ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29528394&form=6&db=m Calpain 3 and CaMKII? signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30056071&form=6&db=m Molecular genetic study of Calpainopathy in Iran. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30323756&form=6&db=m Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30538847&form=6&db=m Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31410652&form=6&db=m Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31501033&form=6&db=m Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31555977&form=6&db=m European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31612648&form=6&db=m NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31656265&form=6&db=m [A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities]. unassigned - 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31890729&form=6&db=m Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy. ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32200007&form=6&db=m A muscle-specific calpain, CAPN3, forms a homotrimer. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32342993&form=6&db=m Novel CAPN3 variant associated with an autosomal dominant calpainopathy. causal interaction,diagnostic usage,unassigned 4,2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32348180&form=6&db=m Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy. diagnostic usage,therapeutic application,unassigned 1,3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32668095&form=6&db=m Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. diagnostic usage,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33205074&form=6&db=m A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33249241&form=6&db=m Protein Expression of Canine and Feline Muscular Dystrophies. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33337384&form=6&db=m Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33427631&form=6&db=m [Calpainopathies: state of the art and therapeutic perspectives]. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34298987&form=6&db=m Allosteric Modulation of GSK-3? as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related. therapeutic application,unassigned 4,0 3.4.22.54 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34514031&form=6&db=m Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7720071&form=6&db=m Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8537379&form=6&db=m Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. therapeutic application,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9077514&form=6&db=m Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9452114&form=6&db=m A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9642272&form=6&db=m Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9771675&form=6&db=m Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. diagnostic usage,ongoing research,unassigned 1,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9777948&form=6&db=m Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. diagnostic usage,ongoing research,unassigned 1,4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9794799&form=6&db=m Purification of native p94, a muscle-specific calpain, and characterization of its autolysis. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10229226&form=6&db=m Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10567047&form=6&db=m Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10607827&form=6&db=m Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes. therapeutic application,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10639725&form=6&db=m New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10814721&form=6&db=m 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. causal interaction,ongoing research,unassigned 3,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838251&form=6&db=m Calpain3 expression during human cardiogenesis. causal interaction,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10987085&form=6&db=m Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11053681&form=6&db=m Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). diagnostic usage,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11134085&form=6&db=m Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice. causal interaction,ongoing research,unassigned 1,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11166165&form=6&db=m Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11245721&form=6&db=m Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. causal interaction,diagnostic usage,unassigned 3,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11350751&form=6&db=m Calpain 3 mRNA expression in mice after denervation and during muscle regeneration. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11371436&form=6&db=m Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11516996&form=6&db=m The calpain family and human disease. causal interaction,diagnostic usage,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11525884&form=6&db=m Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11829483&form=6&db=m The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. causal interaction,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12084932&form=6&db=m Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12482600&form=6&db=m The protease core of the muscle-specific calpain, p94, undergoes Ca2+-dependent intramolecular autolysis. ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12707983&form=6&db=m Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12801918&form=6&db=m Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle. causal interaction,ongoing research,unassigned 1,4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12843569&form=6&db=m [Calpain and pathology in view of structure-function relationships] causal interaction,therapeutic application,unassigned 3,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12890817&form=6&db=m The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14645524&form=6&db=m Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14981715&form=6&db=m Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15073171&form=6&db=m Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15138196&form=6&db=m Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15221789&form=6&db=m Molecular diagnosis in LGMD2A: mutation analysis or protein testing? causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,1,1 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15336956&form=6&db=m Calpain-related diseases. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15531479&form=6&db=m Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15689361&form=6&db=m LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. diagnostic usage,ongoing research,unassigned 3,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15694138&form=6&db=m Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15757244&form=6&db=m A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15843148&form=6&db=m Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. causal interaction,diagnostic usage,unassigned 1,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15884399&form=6&db=m [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family] causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15961411&form=6&db=m Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16115818&form=6&db=m Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. causal interaction,ongoing research,unassigned 1,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16125114&form=6&db=m Calpains in muscle wasting. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16290124&form=6&db=m Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. causal interaction,ongoing research,therapeutic application,unassigned 4,3,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16533054&form=6&db=m Ca(2+) Dependency of Calpain 3 (p94) Activation. causal interaction,therapeutic application,unassigned 2,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16542520&form=6&db=m Early onset calpainopathy with normal non-functional calpain 3 level. therapeutic application,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16816913&form=6&db=m Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype? causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16884488&form=6&db=m Calpain 3: a key regulator of the sarcomere? causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16934440&form=6&db=m Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16971480&form=6&db=m Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. causal interaction,diagnostic usage,unassigned 3,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16982691&form=6&db=m Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiation. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17051641&form=6&db=m Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17157502&form=6&db=m Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. diagnostic usage,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17236769&form=6&db=m A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17258832&form=6&db=m Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17318636&form=6&db=m A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. causal interaction,ongoing research,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17330087&form=6&db=m AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17585039&form=6&db=m Calpain-3 is autolyzed and hence activated in human skeletal muscle 24 h following a single bout of eccentric exercise. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17594342&form=6&db=m A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. causal interaction,ongoing research,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17596655&form=6&db=m Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy. causal interaction,diagnostic usage,ongoing research,unassigned 3,1,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17702496&form=6&db=m Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. causal interaction,ongoing research,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17979987&form=6&db=m Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18055493&form=6&db=m Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. diagnostic usage,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18073330&form=6&db=m NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18334579&form=6&db=m Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18337726&form=6&db=m cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18563459&form=6&db=m Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,1,2,3 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18676612&form=6&db=m Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18974005&form=6&db=m Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19015733&form=6&db=m Gene expression profiling in limb-girdle muscular dystrophy 2A. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19226146&form=6&db=m Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19386580&form=6&db=m Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions. causal interaction,ongoing research,therapeutic application,unassigned 4,4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19483197&form=6&db=m Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19793101&form=6&db=m Calpains, skeletal muscle function and exercise. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19926129&form=6&db=m A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a. causal interaction,ongoing research,unassigned 1,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20139084&form=6&db=m Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20421977&form=6&db=m Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,4,2 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20460380&form=6&db=m Skeletal muscle-specific calpain is an intracellular Na+-dependent protease. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20580976&form=6&db=m Calpainopathy presenting as foot drop in a 41 year old. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20592470&form=6&db=m Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20634290&form=6&db=m Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20694146&form=6&db=m Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20739790&form=6&db=m Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. causal interaction,diagnostic usage,unassigned 2,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20860623&form=6&db=m A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-?B pathway in skeletal muscle. causal interaction,therapeutic application,unassigned 2,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21295580&form=6&db=m Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21386772&form=6&db=m Limb-Girdle Muscular Dystrophy Type 2A Resulting From Homozygous G2338C Transversion Mutation in the Calpain-3 Gene. causal interaction,ongoing research,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21496626&form=6&db=m Limb-girdle muscular dystrophy 2A. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21624972&form=6&db=m Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22057634&form=6&db=m Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. diagnostic usage,ongoing research,unassigned 1,4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22158424&form=6&db=m CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22311686&form=6&db=m An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22443334&form=6&db=m Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22505582&form=6&db=m Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22820870&form=6&db=m C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22931740&form=6&db=m Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23300487&form=6&db=m Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD). causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23414389&form=6&db=m Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23597518&form=6&db=m Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23707407&form=6&db=m PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23821418&form=6&db=m Muscle pathology in 31 patients with calpain 3 gene mutations.. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23908349&form=6&db=m Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. causal interaction,diagnostic usage,ongoing research,therapeutic application 1,3,4,2 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24715573&form=6&db=m Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A. causal interaction,ongoing research,unassigned 3,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24846670&form=6&db=m Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand. causal interaction,therapeutic application,unassigned 4,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25252031&form=6&db=m Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25389288&form=6&db=m Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25512505&form=6&db=m The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25877298&form=6&db=m CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26363096&form=6&db=m Investigation of biochemical changes of the ovine calpain 3 exon-10 polymorphism. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26363099&form=6&db=m An eccentric calpain, CAPN3/p94/calpain-3. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26503425&form=6&db=m Calpain-3-mediated regulation of the Na(+)-Ca(2+) exchanger isoform 3. diagnostic usage,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26583491&form=6&db=m Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26677118&form=6&db=m Limb-girdle muscular dystrophy type 2A in Brazilian children. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26913171&form=6&db=m Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27011640&form=6&db=m Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27020652&form=6&db=m Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. causal interaction,ongoing research,therapeutic application,unassigned 3,1,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27055500&form=6&db=m Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. causal interaction,diagnostic usage,unassigned 4,4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27142102&form=6&db=m Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. diagnostic usage,ongoing research,unassigned 3,4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27259757&form=6&db=m A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. causal interaction,ongoing research,therapeutic application,unassigned 1,2,1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27262448&form=6&db=m Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27861222&form=6&db=m Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28103310&form=6&db=m Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. causal interaction,ongoing research,unassigned 1,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28300015&form=6&db=m FRZB and melusin, overexpressed in LGMD2A, regulate integrin ?1D isoform replacement altering myoblast fusion and the integrin-signalling pathway. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28602176&form=6&db=m Calpainopathy with macrophage-rich, regional inflammatory infiltrates. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28881388&form=6&db=m Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21. ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28915917&form=6&db=m Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29241457&form=6&db=m Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29528394&form=6&db=m Calpain 3 and CaMKII? signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29685414&form=6&db=m A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30056071&form=6&db=m Molecular genetic study of Calpainopathy in Iran. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30254072&form=6&db=m Insertion sequence 1 from calpain-3 is functional in calpain-2 as an internal propeptide. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30323756&form=6&db=m Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30415788&form=6&db=m Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30538847&form=6&db=m Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31011535&form=6&db=m Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31410652&form=6&db=m Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31501033&form=6&db=m Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31540302&form=6&db=m Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31555977&form=6&db=m European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31612648&form=6&db=m NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31776291&form=6&db=m Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A. causal interaction,ongoing research,therapeutic application,unassigned 4,3,3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31788660&form=6&db=m Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31890729&form=6&db=m Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy. ongoing research,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32146000&form=6&db=m A hospital based epidemiological study of genetically determined muscle disease in south western Norway. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32200007&form=6&db=m A muscle-specific calpain, CAPN3, forms a homotrimer. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32342993&form=6&db=m Novel CAPN3 variant associated with an autosomal dominant calpainopathy. causal interaction,diagnostic usage,unassigned 4,2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32448375&form=6&db=m Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32668095&form=6&db=m Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. diagnostic usage,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32994280&form=6&db=m Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33205074&form=6&db=m A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy. causal interaction,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33304817&form=6&db=m Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. causal interaction,diagnostic usage,unassigned 3,4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33308300&form=6&db=m Mitochondrial dysfunction and consequences in calpain-3-deficient muscle. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33335567&form=6&db=m Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families. therapeutic application,unassigned 1,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33337384&form=6&db=m Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33427631&form=6&db=m [Calpainopathies: state of the art and therapeutic perspectives]. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33460149&form=6&db=m Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP-activated protein kinase signalling and poor exercise tolerance in a model of limb-girdle muscular dystrophy R1/2A. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33899113&form=6&db=m Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1. unassigned - 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34285876&form=6&db=m Case report: 'AARS2 leukodystrophy'. causal interaction,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34298987&form=6&db=m Allosteric Modulation of GSK-3? as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related. therapeutic application,unassigned 4,0 3.4.22.54 Muscular Dystrophies, Limb-Girdle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34514031&form=6&db=m Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1. causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophy, Duchenne http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22825607&form=6&db=m Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,3,3,1 3.4.22.54 Muscular Dystrophy, Emery-Dreifuss http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Muscular Dystrophy, Facioscapulohumeral http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15689361&form=6&db=m LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. diagnostic usage,ongoing research,unassigned 3,3,0 3.4.22.54 Muscular Dystrophy, Facioscapulohumeral http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23300487&form=6&db=m Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD). causal interaction,unassigned 3,0 3.4.22.54 Muscular Dystrophy, Oculopharyngeal http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Myalgia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24664555&form=6&db=m A post-transcriptional mechanism regulates calpastatin expression in bovine skeletal muscle. ongoing research,unassigned 1,0 3.4.22.54 Myalgia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27259757&form=6&db=m A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. causal interaction,ongoing research,therapeutic application,unassigned 1,2,1,0 3.4.22.54 Myositis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16115818&form=6&db=m Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. causal interaction,ongoing research,unassigned 1,3,0 3.4.22.54 Myositis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16607617&form=6&db=m CAPN3 mutations in patients with idiopathic eosinophilic myositis. causal interaction,unassigned 3,0 3.4.22.54 Myositis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17979987&form=6&db=m Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. causal interaction,unassigned 2,0 3.4.22.54 Myositis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18299526&form=6&db=m Adults with eosinophilic myositis and calpain-3 mutations. causal interaction,therapeutic application,unassigned 3,1,0 3.4.22.54 Myositis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19285864&form=6&db=m Eosinophilic myositis in calpainopathy: could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease? causal interaction,unassigned 1,0 3.4.22.54 Myotonia Congenita http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33304817&form=6&db=m Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. causal interaction,diagnostic usage,unassigned 3,4,0 3.4.22.54 Myotonic Dystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Neoplasm Metastasis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25658320&form=6&db=m Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,4,0 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10806331&form=6&db=m Calpain-3 gene expression is decreased during experimental cancer cachexia. causal interaction,ongoing research,therapeutic application,unassigned 3,4,3,0 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11807032&form=6&db=m The Drosophila melanogaster gene brain tumor negatively regulates cell growth and ribosomal RNA synthesis. causal interaction,unassigned 1,0 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17196410&form=6&db=m Childhood dermatomyositis associated with intracranial tumor and liver cysts. causal interaction,unassigned 4,0 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20421977&form=6&db=m Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,4,2 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21305563&form=6&db=m CALPAIN activity is increased in skeletal muscle from gastric cancer patients with no or minimal weight loss. causal interaction,diagnostic usage,ongoing research,unassigned 4,3,2,0 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21533183&form=6&db=m DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,1,1,1 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27893719&form=6&db=m Novel KDM1A inhibitors induce differentiation and apoptosis of glioma stem cells via unfolded protein response pathway. causal interaction,ongoing research,therapeutic application,unassigned 1,1,4,0 3.4.22.54 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32588143&form=6&db=m Capn3 depletion causes Chk1 and Wee1 accumulation and disrupts synchronization of cell cycle reentry during liver regeneration after partial hepatectomy. unassigned - 3.4.22.54 Neuromuscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32342993&form=6&db=m Novel CAPN3 variant associated with an autosomal dominant calpainopathy. causal interaction,diagnostic usage,unassigned 4,2,0 3.4.22.54 Nevus http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25658320&form=6&db=m Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,4,0 3.4.22.54 Obesity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12075569&form=6&db=m Calpain 3 gene expression in skeletal muscle is associated with body fat content and measures of insulin resistance. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,2,4,1 3.4.22.54 Obesity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17151322&form=6&db=m Calpains and their multiple roles in diabetes mellitus. causal interaction,ongoing research,unassigned 2,1,0 3.4.22.54 Paraplegia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22311686&form=6&db=m An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. unassigned - 3.4.22.54 Peripheral Nerve Injuries http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26569227&form=6&db=m Calpain 3 Expression Pattern during Gastrocnemius Muscle Atrophy and Regeneration Following Sciatic Nerve Injury in Rats. causal interaction,ongoing research,therapeutic application,unassigned 4,4,4,0 3.4.22.54 Protein Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11245721&form=6&db=m Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. causal interaction,diagnostic usage,unassigned 3,3,0 3.4.22.54 Protein Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15221789&form=6&db=m Molecular diagnosis in LGMD2A: mutation analysis or protein testing? causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,1,1 3.4.22.54 Protein Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16971480&form=6&db=m Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. causal interaction,diagnostic usage,unassigned 3,1,0 3.4.22.54 Protein Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20739790&form=6&db=m Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. causal interaction,diagnostic usage,unassigned 2,3,0 3.4.22.54 Protein Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22334167&form=6&db=m Immunodetection analysis of muscular dystrophies in Mexico. causal interaction,unassigned 1,0 3.4.22.54 Protein Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32448375&form=6&db=m Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels. causal interaction,unassigned 4,0 3.4.22.54 Respiratory Insufficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29685414&form=6&db=m A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. causal interaction,unassigned 4,0 3.4.22.54 Sarcoglycanopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9266733&form=6&db=m A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. unassigned - 3.4.22.54 Sarcoglycanopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17330087&form=6&db=m AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency. causal interaction,unassigned 1,0 3.4.22.54 Sarcoglycanopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22825607&form=6&db=m Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India. causal interaction,diagnostic usage,ongoing research,therapeutic application 2,3,3,1 3.4.22.54 Sarcoglycanopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30919934&form=6&db=m Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. causal interaction,unassigned 3,0 3.4.22.54 Sarcoglycanopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33386810&form=6&db=m Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. causal interaction,unassigned 1,0 3.4.22.54 Sepsis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11236903&form=6&db=m Dantrolene reduces serum TNFalpha and corticosterone levels and muscle calcium, calpain gene expression, and protein breakdown in septic rats. diagnostic usage,ongoing research,therapeutic application,unassigned 3,4,1,0 3.4.22.54 Sepsis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15563579&form=6&db=m Sepsis stimulates calpain activity in skeletal muscle by decreasing calpastatin activity but does not activate caspase-3. causal interaction,ongoing research,therapeutic application,unassigned 4,4,1,0 3.4.22.54 Spinocerebellar Degenerations http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10838245&form=6&db=m Nuclear proteins and cell death in inherited neuromuscular disease. causal interaction,unassigned 2,0 3.4.22.54 Starvation http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29261652&form=6&db=m Proteolytic systems' expression during myogenesis and transcriptional regulation by amino acids in gilthead sea bream cultured muscle cells. ongoing research,unassigned 1,0 3.4.22.54 Vitiligo http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29456684&form=6&db=m CAPN3, DCT, MLANA and TYRP1 are overexpressed in skin of vitiligo vulgaris Mexican patients. unassigned - 3.4.22.54 Wasting Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26913171&form=6&db=m Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A. causal interaction,unassigned 1,0