Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy (Q28298383)

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B Apostol

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V Straub

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J C Lee

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V Allamand

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D P Venzke

7

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Y Sunada

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C R Moomaw

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C J Leveille

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C A Slaughter

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T O Crawford

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J D McPherson

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K P Campbell

Journal of Biological Chemistry

14

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language of work or name

English

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publication date

13 December 1996

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published in

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volume

271

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issue

50

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page(s)

32321-9

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cites work

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

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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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Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin

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Syntrophin binds to an alternatively spliced exon of dystrophin

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Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus

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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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Identification and characterization of the dystrophin anchoring site on beta-dystroglycan

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

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

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Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

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

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

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Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

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

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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

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

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Development of a microsatellite genetic map spanning 5q31–q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9

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

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

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Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

21 January 2018

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

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

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A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

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

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Construction and characterization of a normalized cDNA library

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Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

21 January 2018

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

21 January 2018

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

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21 January 2018

Identifiers

DOI

10.1074/JBC.271.50.32321

1 reference

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Fatcat ID

release_2hfleb7v65gojlepp2kzniruoa

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