(Q36593241)

15 August 2017

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title

Molecular mechanisms of muscular dystrophies: old and new players (English)

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15 August 2017

1

Kay E Davies

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15 August 2017

Kristen J Nowak

2

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15 August 2017

13 September 2006

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Nature Reviews Molecular Cell Biology

15 August 2017

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15 August 2017

7

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15 August 2017

762-773

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15 August 2017

10

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https://scigraph.springernature.com/pub.10.1038/nrm2024

15 August 2017

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cites work

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

1 reference

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

31 March 2020

1 reference

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

31 March 2020

1 reference

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

31 March 2020

1 reference

LMNA mutations in atypical Werner's syndrome

31 March 2020

1 reference

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

31 March 2020

1 reference

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

31 March 2020

1 reference

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

31 March 2020

1 reference

Lamin a truncation in Hutchinson-Gilford progeria.

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber

31 March 2020

1 reference

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

31 March 2020

1 reference

Structures of two repeats of spectrin suggest models of flexibility

31 March 2020

1 reference

Mechanical function of dystrophin in muscle cells

31 March 2020

1 reference

Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain

31 March 2020

1 reference

A new model for the interaction of dystrophin with F-actin

31 March 2020

1 reference

Dystrophin-glycoprotein complex is monomeric and stabilizes actin filaments in vitro through a lateral association

31 March 2020

1 reference

The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin

31 March 2020

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

31 March 2020

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Glycoprotein complex anchoring dystrophin to sarcolemma

31 March 2020

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The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

31 March 2020

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Dystrophin protects the sarcolemma from stresses developed during muscle contraction

31 March 2020

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

31 March 2020

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

31 March 2020

1 reference

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

31 March 2020

1 reference

A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice

31 March 2020

1 reference

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

31 March 2020

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

31 March 2020

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mdx muscle pathology is independent of nNOS perturbation

31 March 2020

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

31 March 2020

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An autosomal transcript in skeletal muscle with homology to dystrophin

31 March 2020

1 reference

Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex

31 March 2020

1 reference

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

31 March 2020

1 reference

Synemin: a new high molecular weight protein associated with desmin and vimentin filaments in muscle

31 March 2020

1 reference

Molecular characteristics and interactions of the intermediate filament protein synemin. Interactions with alpha-actinin may anchor synemin-containing heterofilaments

31 March 2020

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Interactions of intermediate filament protein synemin with dystrophin and utrophin

31 March 2020

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

31 March 2020

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Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

31 March 2020

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

31 March 2020

1 reference

Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

31 March 2020

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Molecular and cell biology of the sarcoglycan complex

31 March 2020

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Limb-girdle muscular dystrophies--from genetics to molecular pathology

31 March 2020

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Impact of sarcoglycan complex on mechanical signal transduction in murine skeletal muscle

31 March 2020

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Sarcospan: ultrastructural localization and its relation to the sarcoglycan subcomplex

31 March 2020

1 reference

Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development

31 March 2020

1 reference

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

31 March 2020

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SH3 domain-mediated interaction of dystroglycan and Grb2

31 March 2020

1 reference

M-caveolin, a muscle-specific caveolin-related protein

31 March 2020

1 reference

Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities

31 March 2020

1 reference

Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain

31 March 2020

1 reference

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

31 March 2020

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Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites

31 March 2020

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

31 March 2020

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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

31 March 2020

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

31 March 2020

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Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

31 March 2020

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

31 March 2020

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Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.

31 March 2020

1 reference

Dysferlin interacts with affixin (beta-parvin) at the sarcolemma

31 March 2020

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Affixin interacts with alpha-actinin and mediates integrin signaling for reorganization of F-actin induced by initial cell-substrate interaction

31 March 2020

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Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

31 March 2020

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Biosynthesis of dystroglycan: processing of a precursor propeptide

31 March 2020

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Dystroglycan: from biosynthesis to pathogenesis of human disease.

31 March 2020

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

31 March 2020

1 reference

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

31 March 2020

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Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

31 March 2020

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

31 March 2020

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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

31 March 2020

1 reference

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

31 March 2020

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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

31 March 2020

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Molecular recognition by LARGE is essential for expression of functional dystroglycan

31 March 2020

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

31 March 2020

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O-mannosyl glycans in mammals

31 March 2020

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Functional requirements for fukutin-related protein in the Golgi apparatus

31 March 2020

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Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy

31 March 2020

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

31 March 2020

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Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

31 March 2020

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Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

31 March 2020

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The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

31 March 2020

1 reference

The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins

31 March 2020

1 reference

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

31 March 2020

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Interaction of plasma membrane fibronectin receptor with talin--a transmembrane linkage

31 March 2020

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Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice

31 March 2020

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Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle

31 March 2020

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When contractile proteins go bad: the sarcomere and skeletal muscle disease

31 March 2020

1 reference

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

31 March 2020

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Titin-cap associates with, and regulates secretion of, Myostatin

31 March 2020

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Telethonin protein expression in neuromuscular disorders

31 March 2020

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Structural basis for activation of the titin kinase domain during myofibrillogenesis

31 March 2020

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Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk

31 March 2020

1 reference

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

31 March 2020

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Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans

31 March 2020

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

31 March 2020

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Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro

31 March 2020

1 reference

Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin

31 March 2020

1 reference

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

31 March 2020

1 reference

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

31 March 2020

1 reference

ZASP: a new Z-band alternatively spliced PDZ-motif protein

31 March 2020

1 reference

Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles

31 March 2020

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The Emery-Dreifuss Muscular Dystrophy Mutation Database

31 March 2020

1 reference

Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD

31 March 2020

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Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.

31 March 2020

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Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

31 March 2020

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Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

31 March 2020

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

31 March 2020

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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

31 March 2020

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RNA pathogenesis of the myotonic dystrophies

31 March 2020

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

31 March 2020

1 reference

A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation

31 March 2020

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Deciphering the cellular pathway for transport of poly(A)-binding protein II

31 March 2020

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Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder

31 March 2020

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Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy.

31 March 2020

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The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy

31 March 2020

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Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

31 March 2020

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Molecular, cellular, and pharmacological therapies for Duchenne/Becker muscular dystrophies.

31 March 2020

1 reference

Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment

31 March 2020

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Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors.

31 March 2020

1 reference

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

31 March 2020

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Sustained whole-body functional rescue in congestive heart failure and muscular dystrophy hamsters by systemic gene transfer

31 March 2020

1 reference

Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model.

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRM2024

1 reference

PubMed ID

16971897

Dimensions Publication ID

15 August 2017

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1 reference

PubMed ID

16971897