Muscular dystrophies: genes to pathogenesis (Q35145855)

6 August 2017

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title

Muscular dystrophies: genes to pathogenesis (English)

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6 August 2017

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Isin Dalkilic

1

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PubMed ID

12787784

6 August 2017

Louis M Kunkel

series ordinal

2

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6 August 2017

1 June 2003

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Current Opinion in Genetics & Development

6 August 2017

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6 August 2017

13

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6 August 2017

3

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6 August 2017

231-238

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Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

A role for dystroglycan in basement membrane assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mouse alpha1-syntrophin binding to Grb2: further evidence of a role for syntrophin in cell signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

SH3 domain-mediated interaction of dystroglycan and Grb2

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Role of nitric oxide in the pathogenesis of muscular dystrophies: a "two hit" hypothesis of the cause of muscle necrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Ca2+-calmodulin binding to mouse alpha1 syntrophin: syntrophin is also a Ca2+-binding protein.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Biglycan organizes collagen VI into hexagonal-like networks resembling tissue structures

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Filamins as integrators of cell mechanics and signalling

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Integrin binding and mechanical tension induce movement of mRNA and ribosomes to focal adhesions

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Integrin signaling: building connections beyond the focal contact?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

The alpha7beta1 integrin in muscle development and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Absence of integrin alpha 7 causes a novel form of muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Nuclear factor-kappa B regulates induction of apoptosis and inhibitor of apoptosis protein-1 expression in vascular smooth muscle cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Direct interaction between emerin and lamin A

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Clinical variability in calpainopathy: what makes the difference?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

Functional requirements for fukutin-related protein in the Golgi apparatus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0

7 January 2021

10.1016/S0959-437X(03)00048-0

Identifiers

DOI

1 reference

6 August 2017

1 reference

PubMed ID

12787784