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Muscular dystrophies: genes to pathogenesis
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Muscular dystrophies: genes to pathogenesis
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
main subject
pathogenesis
0 references
author name string
Isin Dalkilic
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
Louis M Kunkel
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
publication date
1 June 2003
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
volume
13
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
page(s)
231-238
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
cites work
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
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Dystrophin: the protein product of the Duchenne muscular dystrophy locus
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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
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Glycoprotein complex anchoring dystrophin to sarcolemma
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Association of dystrophin and an integral membrane glycoprotein.
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Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice
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A role for dystroglycan in basement membrane assembly
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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
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Mouse alpha1-syntrophin binding to Grb2: further evidence of a role for syntrophin in cell signaling
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SH3 domain-mediated interaction of dystroglycan and Grb2
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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
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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
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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
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
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Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse
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Identification and characterization of the dystrophin anchoring site on beta-dystroglycan
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Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies
1 reference
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Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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Role of nitric oxide in the pathogenesis of muscular dystrophies: a "two hit" hypothesis of the cause of muscle necrosis
1 reference
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7 January 2021
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Ca2+-calmodulin binding to mouse alpha1 syntrophin: syntrophin is also a Ca2+-binding protein.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
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The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
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The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle
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Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix
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Biglycan organizes collagen VI into hexagonal-like networks resembling tissue structures
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Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
1 reference
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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
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Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
1 reference
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Filamins as integrators of cell mechanics and signalling
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Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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Integrin binding and mechanical tension induce movement of mRNA and ribosomes to focal adhesions
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7 January 2021
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Integrin signaling: building connections beyond the focal contact?
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7 January 2021
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The alpha7beta1 integrin in muscle development and disease
1 reference
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7 January 2021
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Absence of integrin alpha 7 causes a novel form of muscular dystrophy
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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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
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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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
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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based on heuristic
inferred from DOI database lookup
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
1 reference
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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase
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7 January 2021
based on heuristic
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Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype
1 reference
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7 January 2021
based on heuristic
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
1 reference
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7 January 2021
based on heuristic
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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
1 reference
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7 January 2021
based on heuristic
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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene
1 reference
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reference URL
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7 January 2021
based on heuristic
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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.
1 reference
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reference URL
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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
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Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
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reference URL
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7 January 2021
based on heuristic
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Myotilin is mutated in limb girdle muscular dystrophy 1A
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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Nuclear factor-kappa B regulates induction of apoptosis and inhibitor of apoptosis protein-1 expression in vascular smooth muscle cells
1 reference
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Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
1 reference
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reference URL
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7 January 2021
based on heuristic
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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Direct interaction between emerin and lamin A
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical variability in calpainopathy: what makes the difference?
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900048-0
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7 January 2021
based on heuristic
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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.
1 reference
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7 January 2021
based on heuristic
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Functional requirements for fukutin-related protein in the Golgi apparatus
1 reference
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reference URL
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7 January 2021
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Identifiers
DOI
10.1016/S0959-437X(03)00048-0
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
PubMed ID
12787784
1 reference
stated in
Europe PubMed Central
PubMed ID
12787784
retrieved
6 August 2017
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