β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12 (Q24312878)

limb-girdle muscular dystrophy

22 May 2024

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GOA release 2020-03-11

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22 May 2024

author name string

L. E. Lim

1

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22 May 2024

F. Duclos

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22 May 2024

O. Broux

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22 May 2024

N. Bourg

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22 May 2024

Y. Sunada

5

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22 May 2024

V. Allamand

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J. Meyer

7

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22 May 2024

I. Richard

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22 May 2024

C. Moomaw

9

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22 May 2024

C. Slaughter

10

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full work available at URL

22 May 2024

language of work or name

English

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publication date

November 1995

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http://www.nature.com/articles/ng1195-257

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http://www.nature.com/articles/ng1195-257.pdf

22 May 2024

file format

Portable Document Format

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http://www.nature.com/articles/ng1195-257.pdf

22 May 2024

file format

Portable Document Format

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https://scigraph.springernature.com/pub.10.1038/ng1195-257

22 May 2024

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11

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issue

3

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page(s)

257-65

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exact match

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cites work

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Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

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Glycoprotein complex anchoring dystrophin to sarcolemma

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Membrane organization of the dystrophin-glycoprotein complex

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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7 January 2021

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

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7 January 2021

Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain

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Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution.

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7 January 2021

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

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A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

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

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Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

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7 January 2021

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

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7 January 2021

On the classification, natural history and treatment of the myopathies.

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Population frequencies of inherited neuromuscular diseases—A world survey

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

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7 January 2021

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

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7 January 2021

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

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7 January 2021

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

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7 January 2021

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

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Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle

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

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Construction and characterization of a normalized cDNA library

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7 January 2021

Genetic and physical maps of human chromosome 4 based on dinucleotide repeats

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7 January 2021

The 1993-94 Généthon human genetic linkage map

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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7 January 2021

A first-generation physical map of the human genome

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Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside

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7 January 2021

Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster.

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7 January 2021

A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering

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7 January 2021

Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

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7 January 2021

Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase

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7 January 2021

Identification of novel proteins unique to either transverse tubules (TS28) or the sarcolemma (SL50) in rabbit skeletal muscle

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7 January 2021

Dystrophin-glycoprotein complex is highly enriched in isolated skeletal muscle sarcolemma

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7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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7 January 2021

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

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7 January 2021

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

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7 January 2021

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

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7 January 2021

Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

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7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG1195-257

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1050223588

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