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Disease on EC 3.4.22.54 - calpain-3

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
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.
A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy.
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice.
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Calpain 3 deficiency in Quail Eater's disease.
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 PRESENTING AS FIBER TYPE DISPROPORTION.
Calpain 3: a key regulator of the sarcomere?
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy.
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Childhood dermatomyositis associated with intracranial tumor and liver cysts.
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle.
Early onset calpainopathy with normal non-functional calpain 3 level.
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Limb-girdle muscular dystrophy 2A.
Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach.
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
Mitochondrial dysfunction and consequences in calpain-3-deficient muscle.
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study.
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
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.
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
Selective pseudohypertrophy of vastus medialis muscles associated with 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.
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.
Calpains and their multiple roles in diabetes mellitus.
Contracture
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
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.
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.
[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.
Gene expression profiling in limb-girdle muscular dystrophy 2A.
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.
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.
Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.
Gene expression analysis of terminal differentiation of human melanoma cells highlights global reductions in cell cycle-associated genes.
Generation and analysis of melanoma SAGE libraries: SAGE advice on the melanoma transcriptome.
New Functional Signatures for Understanding Melanoma Biology from Tumor Cell Lineage-Specific Analysis.
Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions.
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-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.
Cloning of a muscle-specific calpain from the American lobster Homarus americanus: expression associated with muscle atrophy and restoration during moulting.
Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption.
Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice.
MEF2A regulates Calpain 3 expression in L6 myoblasts.
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.
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion.
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-?B Signaling.
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.
Natural history of LGMD2A for delineating outcome measures in clinical trials.
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
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.
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
A muscle-specific calpain, CAPN3, forms a homotrimer.
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.
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a.
A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy.
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
Allosteric Modulation of GSK-3? as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21.
Ca(2+) Dependency of Calpain 3 (p94) Activation.
Calpain 3 and CaMKII? signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Calpain 3 Expression Pattern during Gastrocnemius Muscle Atrophy and Regeneration Following Sciatic Nerve Injury in Rats.
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components.
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Calpain 3 mRNA expression in mice after denervation and during muscle regeneration.
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
Calpain 3: a key regulator of the sarcomere?
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
Calpain-related diseases.
Calpain3 expression during human cardiogenesis.
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.
Calpainopathy presenting as foot drop in a 41 year old.
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling.
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a.
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle.
Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts.
Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
Early onset calpainopathy with normal non-functional calpain 3 level.
Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A.
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.
Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice.
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide.
Late-onset axial myopathy and camptocormia in a calpainopathy carrier.
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Limb-girdle muscular dystrophy type 2A in Brazilian children.
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy.
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Molecular genetic study of Calpainopathy in Iran.
Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle.
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive 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.
Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles.
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro.
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.
Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy.
Protein Expression of Canine and Feline Muscular Dystrophies.
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).
Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiation.
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1.
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.
The protease core of the muscle-specific calpain, p94, undergoes Ca2+-dependent intramolecular autolysis.
[A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities].
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]
[Calpainopathies: state of the art and therapeutic perspectives].
[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.
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
A hospital based epidemiological study of genetically determined muscle disease in south western Norway.
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
A muscle-specific calpain, CAPN3, forms a homotrimer.
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.
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a.
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKII? Signaling in Limb Girdle Muscular Dystrophy.
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.
AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency.
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
Allosteric Modulation of GSK-3? as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
An eccentric calpain, CAPN3/p94/calpain-3.
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.
Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein.
Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21.
C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.
Ca(2+) Dependency of Calpain 3 (p94) Activation.
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
Calpain 3 and CaMKII? signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
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 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components.
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Calpain 3 mRNA expression in mice after denervation and during muscle regeneration.
Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
Calpain 3: a key regulator of the sarcomere?
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy.
Calpain-3 is autolyzed and hence activated in human skeletal muscle 24 h following a single bout of eccentric exercise.
Calpain-3-mediated regulation of the Na(+)-Ca(2+) exchanger isoform 3.
Calpain-related diseases.
Calpain3 expression during human cardiogenesis.
Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.
Calpainopathy presenting as foot drop in a 41 year old.
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Calpains in muscle wasting.
Calpains, skeletal muscle function and exercise.
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Case report: 'AARS2 leukodystrophy'.
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
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.
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand.
Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a.
Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts.
Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
Early onset calpainopathy with normal non-functional calpain 3 level.
Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A.
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.
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3.
Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption.
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
FRZB and melusin, overexpressed in LGMD2A, regulate integrin ?1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.
Gene expression profiling in limb-girdle muscular dystrophy 2A.
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice.
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.
Insertion sequence 1 from calpain-3 is functional in calpain-2 as an internal propeptide.
Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide.
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
Investigation of biochemical changes of the ovine calpain 3 exon-10 polymorphism.
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Limb-girdle muscular dystrophy 2A.
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
Limb-girdle muscular dystrophy type 2A in Brazilian children.
Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.
Limb-Girdle Muscular Dystrophy Type 2A Resulting From Homozygous G2338C Transversion Mutation in the Calpain-3 Gene.
Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan.
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
Mitochondrial dysfunction and consequences in calpain-3-deficient muscle.
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Molecular genetic study of Calpainopathy in Iran.
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study.
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Muscle pathology in 31 patients with calpain 3 gene mutations..
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
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.
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.
New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology.
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.
Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles.
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.
Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions.
Nuclear proteins and cell death in inherited neuromuscular disease.
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro.
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy.
PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
Purification of native p94, a muscle-specific calpain, and characterization of its autolysis.
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).
Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiation.
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.
Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.
Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
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.
Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1.
The calpain family and human disease.
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.
The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation.
The protease core of the muscle-specific calpain, p94, undergoes Ca2+-dependent intramolecular autolysis.
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.
[Calpain and pathology in view of structure-function relationships]
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]
[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.
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.
A post-transcriptional mechanism regulates calpastatin expression in bovine skeletal muscle.
Myositis
Adults with eosinophilic myositis and calpain-3 mutations.
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Eosinophilic myositis in calpainopathy: could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease?
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
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.
Calpain-3 gene expression is decreased during experimental cancer cachexia.
Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.
Capn3 depletion causes Chk1 and Wee1 accumulation and disrupts synchronization of cell cycle reentry during liver regeneration after partial hepatectomy.
Childhood dermatomyositis associated with intracranial tumor and liver cysts.
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
Novel KDM1A inhibitors induce differentiation and apoptosis of glioma stem cells via unfolded protein response pathway.
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.
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.
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Immunodetection analysis of muscular dystrophies in Mexico.
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
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.
AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency.
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
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 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.