Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 (Q24313751)

GOA release 2020-03-11

muscle organ development

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GOA release 2020-03-11

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D Jung

1

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F Leturcq

2

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Y Sunada

3

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F Duclos

4

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F M Tomé

5

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C Moomaw

6

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L Merlini

7

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K Azibi

8

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M Chaouch

9

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C Slaughter

10

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M Fardeau

11

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J C Kaplan

12

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K P Campbell

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

13

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language of work or name

English

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publication date

26 February 1996

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published in

FEBS Letters

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volume

381

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issue

1-2

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page(s)

15-20

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cites work

1 reference

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Deletion analysis of the dystrophin-actin binding domain.

21 January 2018

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Membrane organization of the dystrophin-glycoprotein complex

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Glycoprotein complex anchoring dystrophin to sarcolemma

21 January 2018

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

21 January 2018

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Syntrophin binds to an alternatively spliced exon of dystrophin

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

21 January 2018

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

21 January 2018

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

21 January 2018

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Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa

21 January 2018

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Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families

21 January 2018

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Missense mutations in the adhalin gene linked to 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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The limb-girdle muscular dystrophies--proposal for a new nomenclature.

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

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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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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

21 January 2018

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Molecular organization at the glycoprotein-complex-binding site of dystrophin. Three dystrophin-associated proteins bind directly to the carboxy-terminal portion of dystrophin

21 January 2018

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Enzyme coupled immunoassay of insulin using a novel coupling reagent

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

21 January 2018

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