(Q28587952)

Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models.

GOA release 2020-03-11

1 reference

Prabhjit K. Grewal

1

1 reference

31 January 2017

Jane E. Hewitt

series ordinal

2

1 reference

31 January 2017

15 October 2003

1 reference

31 January 2017

Human Molecular Genetics

1 reference

31 January 2017

12 Spec No 2

1 reference

31 January 2017

R259–264

1 reference

31 January 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Animal models for muscular dystrophy: valuable tools for the development of therapies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Function and genetics of dystrophin and dystrophin-related proteins in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Muscular dystrophies: genes to pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Costameres: the Achilles' heel of Herculean muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

A genetic approach to Mammalian glycan function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

O-mannosyl glycans in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Mutations in the rotated abdomen locus affect muscle development and reveal an intrinsic asymmetry in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Diagnostic criteria for Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Cloning and expression of a novel UDP-GlcNAc:α-d-mannoside β1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:α-3-d-mannoside β1,2-N-acetylglucosaminyltransferase I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

The Fukuyama congenital muscular dystrophy story

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

A new mutation of the fukutin gene in a non-Japanese patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

The Wilms tumor suppressor gene wt1 is required for development of the spleen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Functional requirements for fukutin-related protein in the Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

The phenotype of limb-girdle muscular dystrophy type 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Naked axons in myodystrophic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

The assembly system for the lipopolysaccharide R2 core-type of Escherichia coli is a hybrid of those found in Escherichia coli K-12 and Salmonella enterica. Structure and function of the R2 WaaK and WaaL homologs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Dystroglycan inside and out.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

A stoichiometric complex of neurexins and dystroglycan in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Molecular basis of muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

The neurobiology of duchenne muscular dystrophy: learning lessons from muscle?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Molecular diversity of the dystrophin-like protein complex in the developing and adult avian retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Non-muscle alpha-dystroglycan is involved in epithelial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Dystroglycan in development and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Dystroglycan glycosylation and its role in matrix binding in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Detection of O-mannosyl glycans in rabbit skeletal muscle alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

Identification of a novel mutant transcript of laminin alpha 2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG272