Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy (Q28191769)

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A G Compton

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N Yang

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M A Mills

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M F Peters

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D Mowat

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L M Kunkel

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S C Froehner

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K N North

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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language of work or name

English

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publication date

August 2003

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published in

Neuromuscular Disorders

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volume

13

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issue

6

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page(s)

456-67

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cites work

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

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

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

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7 January 2021

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

The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives

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Differential association of syntrophin pairs with the dystrophin complex

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Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells

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7 January 2021

Syntrophin binds to an alternatively spliced exon of dystrophin

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Direct binding of Torpedo syntrophin to dystrophin and the 87 kDa dystrophin homologue

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7 January 2021

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

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7 January 2021

Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains

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Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin

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7 January 2021

In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4

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Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins

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Stress-activated protein kinase-3 interacts with the PDZ domain of alpha1-syntrophin. A mechanism for specific substrate recognition

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Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases

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Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions

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Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein

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beta-dystrobrevin, a member of the dystrophin-related protein family

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beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations

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7 January 2021

Identification and characterization of a novel member of the dystrobrevin gene family

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Dystrobrevin and dystrophin: an interaction through coiled-coil motifs

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Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene

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Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle

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Characterization of the tyrosine phosphorylation and distribution of dystrobrevin isoforms

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Differential expression and developmental regulation of a novel alpha-dystrobrevin isoform in muscle

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The genomic organization of human dystrobrevin

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Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex

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7 January 2021

Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy

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7 January 2021

Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain

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7 January 2021

Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle

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7 January 2021

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

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Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin

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A novel 87,000-Mr protein associated with acetylcholine receptors in Torpedo electric organ and vertebrate skeletal muscle

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7 January 2021

alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration

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7 January 2021

Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.

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7 January 2021

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

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7 January 2021

Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies

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

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Maturation and maintenance of the neuromuscular synapse: genetic evidence for roles of the dystrophin--glycoprotein complex

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7 January 2021

Knocking signalling out of the dystrophin complex

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A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

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7 January 2021

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Defective glycosylation in muscular dystrophy

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7 January 2021