The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis (Q36592193)

15 August 2017

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title

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis (English)

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15 August 2017

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Motoi Kanagawa

1

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PubMed ID

16969582

15 August 2017

Tatsushi Toda

series ordinal

2

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15 August 2017

13 September 2006

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Journal of Human Genetics

15 August 2017

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15 August 2017

51

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15 August 2017

11

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15 August 2017

915-926

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0056-7

15 August 2017

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Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster

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Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies

21 January 2018

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12 December 2020

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

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An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

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12 December 2020

Dystroglycan: from biosynthesis to pathogenesis of human disease.

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12 December 2020

Form and function: the laminin family of heterotrimers

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12 December 2020

The fukutin protein family--predicted enzymes modifying cell-surface molecules

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12 December 2020

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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12 December 2020

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

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12 December 2020

Muscular nitric oxide synthase (muNOS) and utrophin

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12 December 2020

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

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12 December 2020

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

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12 December 2020

Association of dystrophin and an integral membrane glycoprotein.

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12 December 2020

Functional recovery of damaged skeletal muscle through synchronized vasculogenesis, myogenesis, and neurogenesis by muscle-derived stem cells.

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12 December 2020

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

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12 December 2020

Congenital muscular dystrophy: molecular and cellular aspects.

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12 December 2020

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy

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12 December 2020

The basement membrane/basal lamina of skeletal muscle

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12 December 2020

Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice

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12 December 2020

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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12 December 2020

Nuclear proteins and cell death in inherited neuromuscular disease

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12 December 2020

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

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12 December 2020

Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

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12 December 2020

Primary structure of dystrophin-related protein

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12 December 2020

The role of cytoskeletal proteins in cardiomyopathies

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12 December 2020

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

1 reference

12 December 2020

Absence of alpha 7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy

1 reference

12 December 2020

The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family

1 reference

12 December 2020

Bone marrow stromal cells generate muscle cells and repair muscle degeneration.

1 reference

12 December 2020

Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle

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12 December 2020

Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness

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12 December 2020

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

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12 December 2020

Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models

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12 December 2020

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

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12 December 2020

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

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12 December 2020

Proteolytic enzymes and altered glycosylation modulate dystroglycan function in carcinoma cells.

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12 December 2020

Reciprocal expression of dystrophin and utrophin in muscles of Duchenne muscular dystrophy patients, female DMD-carriers and control subjects

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12 December 2020

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

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12 December 2020

Muscular dystrophies: genes to pathogenesis

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12 December 2020

Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer.

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12 December 2020

Glycoprotein complex anchoring dystrophin to sarcolemma

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12 December 2020

Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy

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12 December 2020

Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice

1 reference

12 December 2020

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

1 reference

12 December 2020

Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex

1 reference

12 December 2020

Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding

1 reference

12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

12 December 2020

Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins

1 reference

12 December 2020

Molecular and cell biology of the sarcoglycan complex

1 reference

12 December 2020

Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice.

1 reference

12 December 2020

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

1 reference

12 December 2020

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease

1 reference

12 December 2020

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E

1 reference

12 December 2020

Advances in Duchenne muscular dystrophy gene therapy

1 reference

12 December 2020

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function

1 reference

12 December 2020

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

1 reference

12 December 2020

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

1 reference

12 December 2020

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

1 reference

12 December 2020

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

1 reference

12 December 2020

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

1 reference

12 December 2020

Physical and functional association of human protein O-mannosyltransferases 1 and 2.

1 reference

12 December 2020

The laminin alpha2 expressed by dystrophic dy(2J) mice is defective in its ability to form polymers

1 reference

12 December 2020

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

1 reference

12 December 2020

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

1 reference

12 December 2020

Functional requirements for fukutin-related protein in the Golgi apparatus

1 reference

12 December 2020

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

12 December 2020

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

1 reference

12 December 2020

Mutations in the integrin alpha7 gene cause congenital myopathy

1 reference

12 December 2020

Dystrophin and utrophin bind actin through distinct modes of contact

1 reference

12 December 2020

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

12 December 2020

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

1 reference

12 December 2020

The congenital muscular dystrophies in 2004: a century of exciting progress

1 reference

12 December 2020

LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

1 reference

12 December 2020

Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Protein O-mannosylation

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12 December 2020

Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Integrins: redundant or important players in skeletal muscle?

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12 December 2020

Molecular recognition by LARGE is essential for expression of functional dystroglycan

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12 December 2020

Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin

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12 December 2020

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy

1 reference

12 December 2020

Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

1 reference

12 December 2020

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

1 reference

12 December 2020

10.1007/S10038-006-0056-7

Identifiers

DOI

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15 August 2017

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PubMed ID

16969582