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Autosomal Emery-Dreifuss Muscular Dystrophy
Nuclear proteins and cell death in inherited neuromuscular disease.
Brain Neoplasms
Mei-P26 regulates microRNAs and cell growth in the Drosophila ovarian stem cell lineage.
Brain Neoplasms
The Drosophila melanogaster gene brain tumor negatively regulates cell growth and ribosomal RNA synthesis.
Bulbo-Spinal Atrophy, X-Linked
Nuclear proteins and cell death in inherited neuromuscular disease.
calpain 8 deficiency
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
calpain-3 deficiency
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
calpain-3 deficiency
A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy.
calpain-3 deficiency
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
calpain-3 deficiency
Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice.
calpain-3 deficiency
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
calpain-3 deficiency
Calpain 3 deficiency in Quail Eater's disease.
calpain-3 deficiency
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.
calpain-3 deficiency
CALPAIN 3 DEFICIENCY PRESENTING AS FIBER TYPE DISPROPORTION.
calpain-3 deficiency
Calpain 3: a key regulator of the sarcomere?
calpain-3 deficiency
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy.
calpain-3 deficiency
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
calpain-3 deficiency
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
calpain-3 deficiency
Childhood dermatomyositis associated with intracranial tumor and liver cysts.
calpain-3 deficiency
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
calpain-3 deficiency
Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle.
calpain-3 deficiency
Early onset calpainopathy with normal non-functional calpain 3 level.
calpain-3 deficiency
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
calpain-3 deficiency
Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.
calpain-3 deficiency
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
calpain-3 deficiency
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
calpain-3 deficiency
Limb-girdle muscular dystrophy 2A.
calpain-3 deficiency
Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach.
calpain-3 deficiency
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
calpain-3 deficiency
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
calpain-3 deficiency
Mitochondrial dysfunction and consequences in calpain-3-deficient muscle.
calpain-3 deficiency
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
calpain-3 deficiency
Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study.
calpain-3 deficiency
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
calpain-3 deficiency
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
calpain-3 deficiency
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
calpain-3 deficiency
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.
calpain-3 deficiency
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
calpain-3 deficiency
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
calpain-3 deficiency
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
calpain-3 deficiency
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
calpain-3 deficiency
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
calpain-3 deficiency
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
Carcinogenesis
Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.
Cardiotoxicity
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.
Cardiotoxicity
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
Cataract
Age-related cataracts in alpha3Cx46-knockout mice are dependent on a calpain 3 isoform.
Cataract
Calpains and their multiple roles in diabetes mellitus.
Contracture
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Contracture
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Cysts
Childhood dermatomyositis associated with intracranial tumor and liver cysts.
Diabetes Mellitus, Type 2
Characterization of GLUT4 and calpain expression in healthy human skeletal muscle during fasting and refeeding.
Distal Myopathies
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
Distal Myopathies
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.
Distal Myopathies
[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]
Dyspnea
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
endopeptidase la deficiency
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.
Epilepsy
Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3.
Epilepsy, Generalized
Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3.
Genetic Diseases, Inborn
Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
Genetic Diseases, Inborn
Gene expression profiling in limb-girdle muscular dystrophy 2A.
Genetic Diseases, Inborn
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.
Glioma
KDM1 is a novel therapeutic target for the treatment of gliomas.
Glycogen Storage Disease Type II
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Hereditary Sensory and Motor Neuropathy
[Coincidence of hereditary motor and sensory neuropathy type 1A and limb lumbo-muscular dystrophy type 2A].
Infections
Muscle-specific calpastatin overexpression prevents diaphragm weakness in cecal ligation puncture-induced sepsis.
Insulin Resistance
Calpain 3 gene expression in skeletal muscle is associated with body fat content and measures of insulin resistance.
Insulin Resistance
Characterization of GLUT4 and calpain expression in healthy human skeletal muscle during fasting and refeeding.
Liposarcoma
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
Melanoma
Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells.
Melanoma
Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.
Melanoma
Gene expression analysis of terminal differentiation of human melanoma cells highlights global reductions in cell cycle-associated genes.
Melanoma
Generation and analysis of melanoma SAGE libraries: SAGE advice on the melanoma transcriptome.
Melanoma
New Functional Signatures for Understanding Melanoma Biology from Tumor Cell Lineage-Specific Analysis.
Melanoma
Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions.
Melanoma
Platelet-derived growth factor C and calpain-3 are modulators of human melanoma cell invasiveness.
Mitochondrial Myopathies
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Muscle Weakness
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Muscle Weakness
Muscle-specific calpastatin overexpression prevents diaphragm weakness in cecal ligation puncture-induced sepsis.
Muscular Atrophy
Calpain 3 Expression Pattern during Gastrocnemius Muscle Atrophy and Regeneration Following Sciatic Nerve Injury in Rats.
Muscular Atrophy
Cloning of a muscle-specific calpain from the American lobster Homarus americanus: expression associated with muscle atrophy and restoration during moulting.
Muscular Atrophy
Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption.
Muscular Atrophy
Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice.
Muscular Atrophy
MEF2A regulates Calpain 3 expression in L6 myoblasts.
Muscular Atrophy
Nuclear proteins and cell death in inherited neuromuscular disease.
Muscular Atrophy, Spinal
Nuclear proteins and cell death in inherited neuromuscular disease.
Muscular Diseases
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy.
Muscular Diseases
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Muscular Diseases
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Muscular Diseases
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.
Muscular Diseases
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Muscular Diseases
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Muscular Diseases
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion.
Muscular Diseases
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
Muscular Diseases
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Muscular Diseases
Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-?B Signaling.
Muscular Diseases
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.
Muscular Diseases
Natural history of LGMD2A for delineating outcome measures in clinical trials.
Muscular Diseases
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Muscular Diseases
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Muscular Dystrophies
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Muscular Dystrophies
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
Muscular Dystrophies
A muscle-specific calpain, CAPN3, forms a homotrimer.
Muscular Dystrophies
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.
Muscular Dystrophies
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Muscular Dystrophies
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a.
Muscular Dystrophies
A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy.
Muscular Dystrophies
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
Muscular Dystrophies
Allosteric Modulation of GSK-3? as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
Muscular Dystrophies
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Muscular Dystrophies
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
Muscular Dystrophies
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Muscular Dystrophies
Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.
Muscular Dystrophies
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Muscular Dystrophies
Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21.
Muscular Dystrophies
Ca(2+) Dependency of Calpain 3 (p94) Activation.
Muscular Dystrophies
Calpain 3 and CaMKII? signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.
Muscular Dystrophies
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Muscular Dystrophies
Calpain 3 Expression Pattern during Gastrocnemius Muscle Atrophy and Regeneration Following Sciatic Nerve Injury in Rats.
Muscular Dystrophies
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
Muscular Dystrophies
Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components.
Muscular Dystrophies
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Muscular Dystrophies
Calpain 3 mRNA expression in mice after denervation and during muscle regeneration.
Muscular Dystrophies
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
Muscular Dystrophies
Calpain 3: a key regulator of the sarcomere?
Muscular Dystrophies
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
Muscular Dystrophies
Calpain-related diseases.
Muscular Dystrophies
Calpain3 expression during human cardiogenesis.
Muscular Dystrophies
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.
Muscular Dystrophies
Calpainopathy presenting as foot drop in a 41 year old.
Muscular Dystrophies
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Muscular Dystrophies
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
Muscular Dystrophies
Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling.
Muscular Dystrophies
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Muscular Dystrophies
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Muscular Dystrophies
Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a.
Muscular Dystrophies
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
Muscular Dystrophies
Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle.
Muscular Dystrophies
Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts.
Muscular Dystrophies
Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
Muscular Dystrophies
Early onset calpainopathy with normal non-functional calpain 3 level.
Muscular Dystrophies
Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A.
Muscular Dystrophies
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
Muscular Dystrophies
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Muscular Dystrophies
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
Muscular Dystrophies
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
Muscular Dystrophies
Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.
Muscular Dystrophies
Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.
Muscular Dystrophies
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Muscular Dystrophies
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice.
Muscular Dystrophies
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Muscular Dystrophies
Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide.
Muscular Dystrophies
Late-onset axial myopathy and camptocormia in a calpainopathy carrier.
Muscular Dystrophies
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Muscular Dystrophies
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
Muscular Dystrophies
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Muscular Dystrophies
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Muscular Dystrophies
Limb-girdle muscular dystrophy type 2A in Brazilian children.
Muscular Dystrophies
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
Muscular Dystrophies
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
Muscular Dystrophies
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy.
Muscular Dystrophies
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
Muscular Dystrophies
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
Muscular Dystrophies
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
Muscular Dystrophies
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Muscular Dystrophies
Molecular genetic study of Calpainopathy in Iran.
Muscular Dystrophies
Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle.
Muscular Dystrophies
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Muscular Dystrophies
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.
Muscular Dystrophies
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Muscular Dystrophies
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
Muscular Dystrophies
Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
Muscular Dystrophies
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.
Muscular Dystrophies
Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles.
Muscular Dystrophies
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Muscular Dystrophies
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Muscular Dystrophies
Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
Muscular Dystrophies
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.
Muscular Dystrophies
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro.
Muscular Dystrophies
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.
Muscular Dystrophies
Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy.
Muscular Dystrophies
Protein Expression of Canine and Feline Muscular Dystrophies.
Muscular Dystrophies
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Muscular Dystrophies
Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).
Muscular Dystrophies
Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiation.
Muscular Dystrophies
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Muscular Dystrophies
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
Muscular Dystrophies
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Muscular Dystrophies
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
Muscular Dystrophies
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Muscular Dystrophies
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
Muscular Dystrophies
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Muscular Dystrophies
Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1.
Muscular Dystrophies
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
Muscular Dystrophies
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.
Muscular Dystrophies
The protease core of the muscle-specific calpain, p94, undergoes Ca2+-dependent intramolecular autolysis.
Muscular Dystrophies
[A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities].
Muscular Dystrophies
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]
Muscular Dystrophies
[Calpainopathies: state of the art and therapeutic perspectives].
Muscular Dystrophies
[Current diagnosis in muscular dystrophies. New developments, methods of examination and case examples]
Muscular Dystrophies, Limb-Girdle
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
Muscular Dystrophies, Limb-Girdle
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Muscular Dystrophies, Limb-Girdle
A hospital based epidemiological study of genetically determined muscle disease in south western Norway.
Muscular Dystrophies, Limb-Girdle
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
Muscular Dystrophies, Limb-Girdle
A muscle-specific calpain, CAPN3, forms a homotrimer.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
Muscular Dystrophies, Limb-Girdle
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a.
Muscular Dystrophies, Limb-Girdle
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
Muscular Dystrophies, Limb-Girdle
A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy.
Muscular Dystrophies, Limb-Girdle
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
Muscular Dystrophies, Limb-Girdle
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.
Muscular Dystrophies, Limb-Girdle
AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency.
Muscular Dystrophies, Limb-Girdle
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).
Muscular Dystrophies, Limb-Girdle
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
Muscular Dystrophies, Limb-Girdle
Allosteric Modulation of GSK-3? as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
Muscular Dystrophies, Limb-Girdle
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Muscular Dystrophies, Limb-Girdle
An eccentric calpain, CAPN3/p94/calpain-3.
Muscular Dystrophies, Limb-Girdle
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Muscular Dystrophies, Limb-Girdle
Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.
Muscular Dystrophies, Limb-Girdle
Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein.
Muscular Dystrophies, Limb-Girdle
Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21.
Muscular Dystrophies, Limb-Girdle
C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.
Muscular Dystrophies, Limb-Girdle
Ca(2+) Dependency of Calpain 3 (p94) Activation.
Muscular Dystrophies, Limb-Girdle
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
Muscular Dystrophies, Limb-Girdle
Calpain 3 and CaMKII? signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.
Muscular Dystrophies, Limb-Girdle
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
Muscular Dystrophies, Limb-Girdle
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Muscular Dystrophies, Limb-Girdle
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
Muscular Dystrophies, Limb-Girdle
Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components.
Muscular Dystrophies, Limb-Girdle
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Muscular Dystrophies, Limb-Girdle
Calpain 3 mRNA expression in mice after denervation and during muscle regeneration.
Muscular Dystrophies, Limb-Girdle
Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.
Muscular Dystrophies, Limb-Girdle
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
Muscular Dystrophies, Limb-Girdle
Calpain 3: a key regulator of the sarcomere?
Muscular Dystrophies, Limb-Girdle
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy.
Muscular Dystrophies, Limb-Girdle
Calpain-3 is autolyzed and hence activated in human skeletal muscle 24 h following a single bout of eccentric exercise.
Muscular Dystrophies, Limb-Girdle
Calpain-3-mediated regulation of the Na(+)-Ca(2+) exchanger isoform 3.
Muscular Dystrophies, Limb-Girdle
Calpain-related diseases.
Muscular Dystrophies, Limb-Girdle
Calpain3 expression during human cardiogenesis.
Muscular Dystrophies, Limb-Girdle
Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.
Muscular Dystrophies, Limb-Girdle
Calpainopathy presenting as foot drop in a 41 year old.
Muscular Dystrophies, Limb-Girdle
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Muscular Dystrophies, Limb-Girdle
Calpains in muscle wasting.
Muscular Dystrophies, Limb-Girdle
Calpains, skeletal muscle function and exercise.
Muscular Dystrophies, Limb-Girdle
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
Muscular Dystrophies, Limb-Girdle
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Muscular Dystrophies, Limb-Girdle
Case report: 'AARS2 leukodystrophy'.
Muscular Dystrophies, Limb-Girdle
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
Muscular Dystrophies, Limb-Girdle
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Muscular Dystrophies, Limb-Girdle
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
Muscular Dystrophies, Limb-Girdle
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
Muscular Dystrophies, Limb-Girdle
Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand.
Muscular Dystrophies, Limb-Girdle
Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a.
Muscular Dystrophies, Limb-Girdle
Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts.
Muscular Dystrophies, Limb-Girdle
Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
Muscular Dystrophies, Limb-Girdle
Early onset calpainopathy with normal non-functional calpain 3 level.
Muscular Dystrophies, Limb-Girdle
Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
Muscular Dystrophies, Limb-Girdle
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Muscular Dystrophies, Limb-Girdle
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
Muscular Dystrophies, Limb-Girdle
Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3.
Muscular Dystrophies, Limb-Girdle
Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption.
Muscular Dystrophies, Limb-Girdle
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
Muscular Dystrophies, Limb-Girdle
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Muscular Dystrophies, Limb-Girdle
FRZB and melusin, overexpressed in LGMD2A, regulate integrin ?1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Muscular Dystrophies, Limb-Girdle
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Muscular Dystrophies, Limb-Girdle
Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.
Muscular Dystrophies, Limb-Girdle
Gene expression profiling in limb-girdle muscular dystrophy 2A.
Muscular Dystrophies, Limb-Girdle
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Muscular Dystrophies, Limb-Girdle
Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.
Muscular Dystrophies, Limb-Girdle
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice.
Muscular Dystrophies, Limb-Girdle
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Muscular Dystrophies, Limb-Girdle
Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.
Muscular Dystrophies, Limb-Girdle
Insertion sequence 1 from calpain-3 is functional in calpain-2 as an internal propeptide.
Muscular Dystrophies, Limb-Girdle
Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide.
Muscular Dystrophies, Limb-Girdle
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
Muscular Dystrophies, Limb-Girdle
Investigation of biochemical changes of the ovine calpain 3 exon-10 polymorphism.
Muscular Dystrophies, Limb-Girdle
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Muscular Dystrophies, Limb-Girdle
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
Muscular Dystrophies, Limb-Girdle
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Muscular Dystrophies, Limb-Girdle
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Muscular Dystrophies, Limb-Girdle
Limb-girdle muscular dystrophy 2A.
Muscular Dystrophies, Limb-Girdle
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.
Muscular Dystrophies, Limb-Girdle
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
Muscular Dystrophies, Limb-Girdle
Limb-girdle muscular dystrophy type 2A in Brazilian children.
Muscular Dystrophies, Limb-Girdle
Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.
Muscular Dystrophies, Limb-Girdle
Limb-Girdle Muscular Dystrophy Type 2A Resulting From Homozygous G2338C Transversion Mutation in the Calpain-3 Gene.
Muscular Dystrophies, Limb-Girdle
Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan.
Muscular Dystrophies, Limb-Girdle
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
Muscular Dystrophies, Limb-Girdle
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.
Muscular Dystrophies, Limb-Girdle
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
Muscular Dystrophies, Limb-Girdle
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
Muscular Dystrophies, Limb-Girdle
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
Muscular Dystrophies, Limb-Girdle
Mitochondrial dysfunction and consequences in calpain-3-deficient muscle.
Muscular Dystrophies, Limb-Girdle
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
Muscular Dystrophies, Limb-Girdle
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Muscular Dystrophies, Limb-Girdle
Molecular genetic study of Calpainopathy in Iran.
Muscular Dystrophies, Limb-Girdle
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
Muscular Dystrophies, Limb-Girdle
Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study.
Muscular Dystrophies, Limb-Girdle
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Muscular Dystrophies, Limb-Girdle
Muscle pathology in 31 patients with calpain 3 gene mutations..
Muscular Dystrophies, Limb-Girdle
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.
Muscular Dystrophies, Limb-Girdle
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
Muscular Dystrophies, Limb-Girdle
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Muscular Dystrophies, Limb-Girdle
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
Muscular Dystrophies, Limb-Girdle
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
Muscular Dystrophies, Limb-Girdle
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
Muscular Dystrophies, Limb-Girdle
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles.
Muscular Dystrophies, Limb-Girdle
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Muscular Dystrophies, Limb-Girdle
Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.
Muscular Dystrophies, Limb-Girdle
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Muscular Dystrophies, Limb-Girdle
Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
Muscular Dystrophies, Limb-Girdle
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.
Muscular Dystrophies, Limb-Girdle
Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions.
Muscular Dystrophies, Limb-Girdle
Nuclear proteins and cell death in inherited neuromuscular disease.
Muscular Dystrophies, Limb-Girdle
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro.
Muscular Dystrophies, Limb-Girdle
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.
Muscular Dystrophies, Limb-Girdle
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
Muscular Dystrophies, Limb-Girdle
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
Muscular Dystrophies, Limb-Girdle
Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy.
Muscular Dystrophies, Limb-Girdle
PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.
Muscular Dystrophies, Limb-Girdle
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
Muscular Dystrophies, Limb-Girdle
Purification of native p94, a muscle-specific calpain, and characterization of its autolysis.
Muscular Dystrophies, Limb-Girdle
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Muscular Dystrophies, Limb-Girdle
Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).
Muscular Dystrophies, Limb-Girdle
Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiation.
Muscular Dystrophies, Limb-Girdle
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Muscular Dystrophies, Limb-Girdle
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.
Muscular Dystrophies, Limb-Girdle
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Muscular Dystrophies, Limb-Girdle
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
Muscular Dystrophies, Limb-Girdle
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Muscular Dystrophies, Limb-Girdle
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Muscular Dystrophies, Limb-Girdle
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
Muscular Dystrophies, Limb-Girdle
Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.
Muscular Dystrophies, Limb-Girdle
Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.
Muscular Dystrophies, Limb-Girdle
Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
Muscular Dystrophies, Limb-Girdle
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Muscular Dystrophies, Limb-Girdle
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.
Muscular Dystrophies, Limb-Girdle
Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1.
Muscular Dystrophies, Limb-Girdle
The calpain family and human disease.
Muscular Dystrophies, Limb-Girdle
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
Muscular Dystrophies, Limb-Girdle
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.
Muscular Dystrophies, Limb-Girdle
The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation.
Muscular Dystrophies, Limb-Girdle
The protease core of the muscle-specific calpain, p94, undergoes Ca2+-dependent intramolecular autolysis.
Muscular Dystrophies, Limb-Girdle
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
Muscular Dystrophies, Limb-Girdle
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Muscular Dystrophies, Limb-Girdle
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Muscular Dystrophies, Limb-Girdle
Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.
Muscular Dystrophies, Limb-Girdle
[Calpain and pathology in view of structure-function relationships]
Muscular Dystrophies, Limb-Girdle
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]
Muscular Dystrophies, Limb-Girdle
[Calpainopathies: state of the art and therapeutic perspectives].
Muscular Dystrophy, Duchenne
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
Muscular Dystrophy, Emery-Dreifuss
Nuclear proteins and cell death in inherited neuromuscular disease.
Muscular Dystrophy, Facioscapulohumeral
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Muscular Dystrophy, Facioscapulohumeral
Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).
Muscular Dystrophy, Oculopharyngeal
Nuclear proteins and cell death in inherited neuromuscular disease.
Myalgia
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Myalgia
A post-transcriptional mechanism regulates calpastatin expression in bovine skeletal muscle.
Myositis
Adults with eosinophilic myositis and calpain-3 mutations.
Myositis
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Myositis
Eosinophilic myositis in calpainopathy: could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease?
Myositis
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
Myositis
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Myotonia Congenita
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Myotonic Dystrophy
Nuclear proteins and cell death in inherited neuromuscular disease.
Neoplasm Metastasis
Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells.
Neoplasms
CALPAIN activity is increased in skeletal muscle from gastric cancer patients with no or minimal weight loss.
Neoplasms
Calpain-3 gene expression is decreased during experimental cancer cachexia.
Neoplasms
Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.
Neoplasms
Capn3 depletion causes Chk1 and Wee1 accumulation and disrupts synchronization of cell cycle reentry during liver regeneration after partial hepatectomy.
Neoplasms
Childhood dermatomyositis associated with intracranial tumor and liver cysts.
Neoplasms
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
Neoplasms
Novel KDM1A inhibitors induce differentiation and apoptosis of glioma stem cells via unfolded protein response pathway.
Neoplasms
The Drosophila melanogaster gene brain tumor negatively regulates cell growth and ribosomal RNA synthesis.
Neuromuscular Diseases
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Nevus
Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells.
Obesity
Calpain 3 gene expression in skeletal muscle is associated with body fat content and measures of insulin resistance.
Obesity
Calpains and their multiple roles in diabetes mellitus.
Paraplegia
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Peripheral Nerve Injuries
Calpain 3 Expression Pattern during Gastrocnemius Muscle Atrophy and Regeneration Following Sciatic Nerve Injury in Rats.
Protein Deficiency
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy.
Protein Deficiency
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Protein Deficiency
Immunodetection analysis of muscular dystrophies in Mexico.
Protein Deficiency
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Protein Deficiency
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Protein Deficiency
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Respiratory Insufficiency
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
Sarcoglycanopathies
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Sarcoglycanopathies
AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency.
Sarcoglycanopathies
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
Sarcoglycanopathies
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Sarcoglycanopathies
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Sepsis
Dantrolene reduces serum TNFalpha and corticosterone levels and muscle calcium, calpain gene expression, and protein breakdown in septic rats.
Sepsis
Sepsis stimulates calpain activity in skeletal muscle by decreasing calpastatin activity but does not activate caspase-3.
Spinocerebellar Degenerations
Nuclear proteins and cell death in inherited neuromuscular disease.
Starvation
Proteolytic systems' expression during myogenesis and transcriptional regulation by amino acids in gilthead sea bream cultured muscle cells.
Vitiligo
CAPN3, DCT, MLANA and TYRP1 are overexpressed in skin of vitiligo vulgaris Mexican patients.
Wasting Syndrome
Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.
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Boeckmann, B.; Bairoch, A.; Apweiler, R.; Blatter, M.C.; Estreicher, A.; Gasteiger, E.; Martin M.J.; Michoud, K.; O'Donovan, C.; Phan, I.; Pilbout, S.; Schneider, M.
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Homo sapiens (P20807)
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Sorimachi H.; Imajoh-Ohmi S.; Emori Y.; Kawasaki H.; Ohno S.; Minami Y.; Suzuki K.
Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle
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1989
Homo sapiens (P20807), Rattus norvegicus (P16259)
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Richard, I.; Brenguier, L.; Dincer P.; et al.
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
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Homo sapiens (P20807), Homo sapiens, Sus scrofa (P43368)
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Calpainopathy - a survey of mutations and polymorphisms
Am. J. Hum. Genet.
64
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Homo sapiens (P20807), Homo sapiens
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Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion island
Brain
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1996
Homo sapiens (P20807)
-
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Richard, I.; Broux, O.; Allamand, V.; et al.
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
Cell
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1995
Homo sapiens (P20807), Homo sapiens
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A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
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1997
Homo sapiens (P20807), Homo sapiens
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Urtasun, M.; Saenz, A.; Roudaut, C.; et al.
Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)
Brain
121
1735-1747
1998
Homo sapiens (P20807)
-
brenda
Haeffner, K.; Speer, A.; Huebner, C.; Voit, T.; Oexle, K.
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A
Hum. Mutat.
1
S298-S300
1998
Homo sapiens (P20807)
-
brenda
Penisson-Besnier, I.; Richard, I.; Dubas, F.; Beckmann, J.S.; Fardeau, M.
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
Muscle Nerve
21
1078-1080
1998
Homo sapiens (P20807)
brenda
Kawai, H.; Akaike, M.; Kunishige, M.; et al.
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
Muscle Nerve
21
1493-1501
1998
Homo sapiens (P20807), Homo sapiens
brenda
de Tullio, R.; Stifanese, R.; Salamino, F.; Pontremoli, S.; Melloni, E.
Characterization of a new p94-like calpain form in human lymphocytes
Biochem. J.
375
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2003
Homo sapiens
brenda
Jia, Z.; Petrounevitch, V.; Wong, A.; Moldoveanu, T.; Davies, P.L.; Elce, J.S.; Beckmann, J.S.
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain
Biophys. J.
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2590-2596
2001
Homo sapiens
brenda
Rey, M.A.; Davies, P.L.
The protease core of the muscle-specific calpain, p94, undergoes Ca2+-dependent intramolecular autolysis
FEBS Lett.
532
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2002
Homo sapiens
brenda
Sorimachi, H.; Saido, T.C.; Suzuki, K.
New era of calpain research. Discovery of tissue-specific calpains
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343
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1994
Gallus gallus, Homo sapiens, Rattus norvegicus
brenda
Welm, A.L.; Timchenko, N.A.; Ono, Y.; Sorimachi, H.; Radomska, H.S.; Tenen, D.G.; Lekstrom-Himes, J.; Darlington, G.J.
C/EBPalpha is required for proteolytic cleavage of cyclin A by calpain 3 in myeloid precursor cells
J. Biol. Chem.
277
33848-33856
2002
Homo sapiens, Mus musculus
brenda
Murphy, R.M.; Snow, R.J.; Lamb, G.D.
m-Calpain and calpain-3 are not autolyzed with exhaustive exercise in humans
Am. J. Physiol.
290
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2006
Homo sapiens, Rattus norvegicus
brenda
Ravulapalli, R.; Diaz, B.G.; Campbell, R.L.; Davies, P.L.
Homodimerization of calpain 3 penta-EF-hand domain
Biochem. J.
388
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2005
Homo sapiens (P20807)
brenda
Garcia Diaz, B.E.; Gauthier, S.; Davies, P.L.
Ca2+ dependency of calpain 3 (p84) activation
Biochemistry
45
3714-3722
2006
Homo sapiens
brenda
Saenz, A.; Leturcq, F.; et.al.
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
Brain
128
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2005
Homo sapiens
brenda
Duguez, S.; Bartoli, M.; Richard, I.
Calpain 3: a key regulator of the sarcomere?
FEBS J.
273
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2006
Homo sapiens
brenda
Diaz, B.G.; Moldoveanu, T.; Kuiper, M.J.; Campbell, R.L.; Davies, P.L.
Insertion sequence 1 of muscle-specific calpain p94, acts as an internal propeptide
J. Biol. Chem.
279
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2004
Homo sapiens
brenda
Fanin, M.; Nascimbeni, A.C.; Angelini, C.
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
J. Med. Genet.
44
38-43
2007
Homo sapiens
brenda
Norton, L.; Parr, T.; Bardsley, R.G.; Ye, H.; Tsintzas, K.
Characterization of GLUT4 and calpain expression in healthy human skeletal muscle during fasting and refeeding
Acta Physiol. (Oxf.)
189
233-240
2007
Homo sapiens
brenda
Ono, Y.; Hayashi, C.; Doi, N.; Kitamura, F.; Shindo, M.; Kudo, K.; Tsubata, T.; Yanagida, M.; Sorimachi, H.
Comprehensive survey of p94/calpain 3 substrates by comparative proteomics - possible regulation of protein synthesis by p94
Biotechnol. J.
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2007
Homo sapiens (P20807)
brenda
Benayoun, B.; Baghdiguian, S.; Lajmanovich, A.; Bartoli, M.; Daniele, N.; Gicquel, E.; Bourg, N.; Raynaud, F.; Pasquier, M.A.; Suel, L.; Lochmuller, H.; Lefranc, G.; Richard, I.
NF-{kappa}B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A
FASEB J.
22
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2007
Homo sapiens
brenda
Huang, Y.; de Morree, A.; van Remoortere, A.; Bushby, K.; Frants, R.R.; den Dunnen, J.; van der Maarel, S.M.
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
Hum. Mol. Genet.
17
1855-1866
2008
Homo sapiens
brenda
Murphy, R.M.; Goodman, C.A.; McKenna, M.J.; Bennie, J.; Leikis, M.; Lamb, G.D.
Calpain-3 is autolyzed and hence activated in human skeletal muscle 24 h following a single bout of eccentric exercise
J. Appl. Physiol.
103
926-931
2007
Homo sapiens
brenda
Hayashi, C.; Ono, Y.; Doi, N.; Kitamura, F.; Tagami, M.; Mineki, R.; Arai, T.; Taguchi, H.; Yanagida, M.; Hirner, S.; Labeit, D.; Labeit, S.; Sorimachi, H.
Multiple molecular interactions implicate connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle
J. Biol. Chem.
23
14801-14814
2008
Homo sapiens (P20807), Mus musculus (Q64691)
brenda
Ojima, K.; Ono, Y.; Doi, N.; Yoshioka, K.; Kawabata, Y.; Labeit, S.; Sorimachi, H.
Myogenic stage, sarcomere length, and protease activity modulate localization of muscle-specific calpain
J. Biol. Chem.
282
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2007
Homo sapiens (P20807), Mus musculus (Q64691)
brenda
Garnham, C.; Hanna, R.; Chou, J.; Low, K.; Gourlay, K.; Campbell, R.; Beckmann, J.; Davies, P.
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3
Biochemistry
48
3457-3467
2009
Homo sapiens
brenda
Vissing, K.; Overgaard, K.; Nedergaard, A.; Fredsted, A.; Schjerling, P.
Effects of concentric and repeated eccentric exercise on muscle damage and calpain-calpastatin gene expression in human skeletal muscle
Eur. J. Appl. Physiol.
103
323-332
2008
Homo sapiens (P20807), Homo sapiens
brenda
Blazquez, L.; Azpitarte, M.; Saenz, A.; Goicoechea, M.; Otaegui, D.; Ferrer, X.; Illa, I.; Gutierrez-Rivas, E.; Vilchez, J.J.; Lopez de Munain, A.
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis
Neurogenetics
9
173-182
2008
Homo sapiens
brenda
Moretti, D.; Del Bello, B.; Cosci, E.; Biagioli, M.; Miracco, C.; Maellaro, E.
Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions
Carcinogenesis
30
960-967
2009
Homo sapiens
brenda
Ravulapalli, R.; Campbell, R.L.; Gauthier, S.Y.; Dhe-Paganon, S.; Davies, P.L.
Distinguishing between calpain heterodimerization and homodimerization
FEBS J.
276
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2009
Homo sapiens
brenda
Charlton, R.; Henderson, M.; Richards, J.; Hudson, J.; Straub, V.; Bushby, K.; Barresi, R.
Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A
Neuromuscul. Disord.
19
449-457
2009
Homo sapiens
brenda
Laure, L.; Daniele, N.; Suel, L.; Marchand, S.; Aubert, S.; Bourg, N.; Roudaut, C.; Duguez, S.; Bartoli, M.; Richard, I.
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
FEBS J.
277
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2010
Homo sapiens (P20807)
brenda
de Morree, A.; Lutje Hulsik, D.; Impagliazzo, A.; van Haagen, H.H.; de Galan, P.; van Remoortere, A.; t Hoen, P.A.; van Ommen, G.B.; Frants, R.R.; van der Maarel, S.M.
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling
PLoS ONE
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e11940
2010
Homo sapiens
brenda
Charton, K.; Sarparanta, J.; Vihola, A.; Milic, A.; Jonson, P.H.; Suel, L.; Luque, H.; Boumela, I.; Richard, I.; Udd, B.
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy
Hum. Mol. Genet.
24
3718-3731
2015
Homo sapiens (P20807), Mus musculus (Q64691)
brenda
Pistoni, M.; Shiue, L.; Cline, M.S.; Bortolanza, S.; Neguembor, M.V.; Xynos, A.; Ares, M.; Gabellini, D.
Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of facioscapulohumeral muscular dystrophy (FSHD)
PLoS Genet.
9
e1003186
2013
Homo sapiens (P20807), Homo sapiens, Mus musculus (Q64691), Mus musculus
brenda
Ono, Y.; Ojima, K.; Shinkai-Ouchi, F.; Hata, S.; Sorimachi, H.
An eccentric calpain, CAPN3/p94/calpain-3
Biochimie
122
169-187
2016
Homo sapiens (P20807), Homo sapiens
brenda
Ono, Y.; Sorimachi, H.
Amino acid sequence alignment of vertebrate CAPN3/calpain-3/p94
Data Brief
5
366-367
2015
Homo sapiens (P20807)
brenda
Ye, Q.; Campbell, R.L.; Davies, P.L.
Structures of human calpain-3 protease core with and without bound inhibitor reveal mechanisms of calpain activation
J. Biol. Chem.
293
4056-4070
2018
Homo sapiens (P20807), Homo sapiens
brenda
Michel, L.Y.; Hoenderop, J.G.; Bindels, R.J.
Calpain-3-mediated regulation of the Na+-Ca2+ exchanger isoform 3
Pflugers Arch.
468
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2016
Homo sapiens (P20807)
brenda
Moretti, D.; Del Bello, B.; Allavena, G.; Corti, A.; Signorini, C.; Maellaro, E.
Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells
PLoS ONE
10
e0117258
2015
Homo sapiens (P20807), Homo sapiens
brenda