Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A (Q24339386)

GOA release 2020-03-11

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5

Volker Straub

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author name string

Richard Charlton

1

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Matthew Henderson

2

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Julie Richards

3

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Judith Hudson

4

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Kate Bushby

6

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Rita Barresi

Calpain translocation during muscle fiber necrosis and regeneration in dystrophin-deficient mice

7

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language of work or name

English

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publication date

July 2009

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published in

Neuromuscular Disorders

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volume

19

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issue

7

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page(s)

449-57

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cites work

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A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

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Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?

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Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance

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Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

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Multiplex Western blotting system for the analysis of muscular dystrophy proteins

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Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

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Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

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The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

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Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

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How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

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Myogenic stage, sarcomere length, and protease activity modulate localization of muscle-specific calpain

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LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

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Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

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Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.

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Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle

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Limb-girdle muscular dystrophies--from genetics to molecular pathology

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Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques

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Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events

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Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components

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Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.

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Calpain 3 mRNA expression in mice after denervation and during muscle regeneration

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Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A

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Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

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Protein defects in neuromuscular diseases

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