Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. (Q35843389)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14578192%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression (English)

1 reference

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20 December 2019

0 references

1 reference

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20 December 2019

Marina Fanin

1 reference

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20 December 2019

Anna Chiara Nascimbeni

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20 December 2019

Luigi Fulizio

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20 December 2019

Carlo Pietro Trevisan

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20 December 2019

Marija Meznaric-Petrusa

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20 December 2019

language of work or name

English

0 references

publication date

1 November 2003

1 reference

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The American Journal of Pathology

20 December 2019

published in

1 reference

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20 December 2019

volume

163

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20 December 2019

issue

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20 December 2019

page(s)

1929-1936

1 reference

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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.

20 December 2019

cites work

1 reference

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An efficient procedure for genotyping single nucleotide polymorphisms.

27 July 2018

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Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain

27 July 2018

1 reference

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Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

27 July 2018

1 reference

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New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology

27 July 2018

1 reference

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

27 July 2018

1 reference

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Purification of native p94, a muscle-specific calpain, and characterization of its autolysis

27 July 2018

1 reference

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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

27 July 2018

1 reference

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Role of calpain in skeletal-muscle protein degradation

27 July 2018

1 reference

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Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

27 July 2018

1 reference

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Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

27 July 2018

1 reference

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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

27 July 2018

1 reference

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Evidence for implication of muscle-specific calpain (p94) in myofibrillar integrity.

27 July 2018

1 reference

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Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

27 July 2018

1 reference

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

27 July 2018

1 reference

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Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle

27 July 2018

1 reference

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Calpain mutants with increased Ca2+ sensitivity and implications for the role of the C(2)-like domain.

27 July 2018

1 reference

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Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892408

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892408

Calpainopathy-a survey of mutations and polymorphisms

24 September 2018

1 reference

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Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle.

24 September 2018

1 reference

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

24 September 2018

1 reference

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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

22 October 2018

1 reference

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Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

6 December 2018

1 reference

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The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

7 January 2021

1 reference

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Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

7 January 2021

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Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

7 January 2021

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

7 January 2021

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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

7 January 2021

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A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14578192

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S0002-9440(10)63551-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14578192%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

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20 December 2019

PubMed publication ID

14578192

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14578192%20AND%20SRC:MED&resulttype=core&format=json