Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A (Q24310208)

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12 November 2019

title

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

1 reference

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12 November 2019

1 reference

GOA release 2020-03-11

titin

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GOA release 2020-03-11

protease binding

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limb-girdle muscular dystrophy

GOA release 2020-03-11

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3

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12 November 2019

Jacques S Beckmann

6

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12 November 2019

author name string

Y Ono

1

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12 November 2019

H Shimada

2

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12 November 2019

I Richard

4

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12 November 2019

T C Saido

5

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12 November 2019

S Ishiura

7

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12 November 2019

K Suzuki

8

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12 November 2019

language of work or name

English

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publication date

1 July 1998

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Journal of Biological Chemistry

12 November 2019

published in

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12 November 2019

volume

273

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12 November 2019

issue

27

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12 November 2019

page(s)

17073-17078

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New era of calpain research. Discovery of tissue-specific calpains

12 November 2019

cites work

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

21 January 2018

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The limb-girdle muscular dystrophies--proposal for a new nomenclature.

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Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

21 January 2018

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

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Titins: giant proteins in charge of muscle ultrastructure and elasticity

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The giant protein titin. Emerging roles in physiology and pathophysiology

21 January 2018

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Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

21 January 2018

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A novel phorbol ester receptor/protein kinase, nPKC, distantly related to the protein kinase C family

21 January 2018

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The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases

21 January 2018

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Electroporation for the efficient transfection of mammalian cells with DNA.

21 January 2018

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Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

21 January 2018

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Structure and evolution of a non-erythroid spectrin, human alpha-fodrin

21 January 2018

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Interaction of aspartic acid-104 and proline-287 with the active site of m-calpain

21 January 2018

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Structure of a calpain Ca2+-binding domain reveals a novel EF-hand and Ca2+-induced conformational changes

21 January 2018

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Crystal structure of calcium bound domain VI of calpain at 1.9 Å resolution and its role in enzyme assembly, regulation, and inhibitor binding

21 January 2018

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Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.

21 January 2018

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Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms.

21 January 2018

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Dystrophin protects the sarcolemma from stresses developed during muscle contraction

21 January 2018

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

21 January 2018

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Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

21 January 2018

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Calpain: novel family members, activation, and physiologic function

21 January 2018

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SR alpha promoter: an efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat

21 January 2018

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A foundation for limb-girdle muscular dystrophy

21 January 2018

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Connectin/titin, giant elastic protein of muscle.

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