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The crystal structure of calcium-free human m-calpain suggests an electrostatic switch mechanism for activation by calciumKelch proteins: emerging roles in skeletal muscle development and diseases.Skeletal muscle-specific calpain is an intracellular Na+-dependent proteaseEndogenous calpain-3 activation is primarily governed by small increases in resting cytoplasmic [Ca2+] and is not dependent on stretchThe ichq mutant mouse, a model for the human skin disorder harlequin ichthyosis: mapping, keratinocyte culture, and consideration of candidate genes involved in epidermal growth regulationGeneration and analysis of melanoma SAGE libraries: SAGE advice on the melanoma transcriptome.Coexisting muscular dystrophies and epilepsy in children.An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene.Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies.Diagnostic protein expression in human muscle biopsies.Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.Adverse and beneficial functions of proteolytic enzymes in skeletal muscle. An overview.Autolytic activation of calpain 3 proteinase is facilitated by calmodulin proteinCalpain chronicle--an enzyme family under multidisciplinary characterizationExtensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.The muscular dystrophies: from genes to therapies.Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Diagnostic immunohistochemistry in neuromuscular disorders.Diagnostic immunohistology of muscle diseases.Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 MutationsNatural history of LGMD2A for delineating outcome measures in clinical trialsScreening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.Neuromuscular disorders: genes, genetic counseling and therapeutic trialsThe sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesThe Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesProtein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.Calpain-3-mediated regulation of the Na⁺-Ca²⁺ exchanger isoform 3.Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.How to tackle the diagnosis of limb-girdle muscular dystrophy 2AConformational changes of calpain from human erythrocytes in the presence of Ca2+.Flexibility analysis and structure comparison of two crystal forms of calcium-free human m-calpain.Clinical variability in calpainopathy: what makes the difference?Early onset calpainopathy with normal non-functional calpain 3 level.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Calpainopathy-a survey of mutations and polymorphisms.
@en
Calpainopathy-a survey of mutations and polymorphisms.
@nl
type
label
Calpainopathy-a survey of mutations and polymorphisms.
@en
Calpainopathy-a survey of mutations and polymorphisms.
@nl
prefLabel
Calpainopathy-a survey of mutations and polymorphisms.
@en
Calpainopathy-a survey of mutations and polymorphisms.
@nl
P2093
P2860
P356
P1476
Calpainopathy-a survey of mutations and polymorphisms.
@en
P2093
Anderson LV
Beckmann JS
Ginjaar HB
P2860
P304
P356
10.1086/302426
P407
P577
1999-06-01T00:00:00Z