(Q30499359)

14 October 2017

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies (English)

1 reference

14 October 2017

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5

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14 October 2017

9

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14 October 2017

7

Leonard I Zon

1 reference

14 October 2017

Vandana Gupta

1

1 reference

14 October 2017

Genri Kawahara

2

1 reference

14 October 2017

Stacey R Gundry

3

1 reference

14 October 2017

Aye T Chen

4

1 reference

14 October 2017

Yi Zhou

6

1 reference

14 October 2017

Louis M Kunkel

8

1 reference

14 October 2017

4 February 2011

1 reference

14 October 2017

Human Molecular Genetics

1 reference

14 October 2017

20

1 reference

14 October 2017

9

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14 October 2017

1712-1725

1 reference

Human allelic variation: perspective from protein function, structure, and evolution

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Zebrafish models for human FKRP muscular dystrophies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Visual impairment in the absence of dystroglycan

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Abnormal glycosylation of dystroglycan in human genetic disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Topoisomerase II alpha is required for embryonic development and liver regeneration in zebrafish

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Functional diversity of dystroglycan

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Muscular dystrophies due to glycosylation defects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Inhibitory control over Ca(2+) sparks via mechanosensitive channels is disrupted in dystrophin deficient muscle but restored by mini-dystrophin expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

L-type Ca2+ channel function is linked to dystrophin expression in mammalian muscle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Biology of the striated muscle dystrophin-glycoprotein complex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Dystroglycan and protein O-mannosyltransferases 1 and 2 are required to maintain integrity of Drosophila larval muscles.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

The zebrafish runzel muscular dystrophy is linked to the titin gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Duplication of the dystroglycan gene in most branches of teleost fish

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Zebrafish orthologs of human muscular dystrophy genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Dystroglycan: from biosynthesis to pathogenesis of human disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

A novel isoform of delta-sarcoglycan is localized at the sarcoplasmic reticulum of mouse skeletal muscle.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Dystroglycan, a scaffold for the ERK-MAP kinase cascade

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Muscular dystrophies: genes to pathogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Diagnostic criteria for Walker-Warburg syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Structural analysis of muscle development: transverse tubules, sarcoplasmic reticulum, and the triad

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit.

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

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%2FDDR047

Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

Large-scale mutagenesis in the zebrafish: in search of genes controlling development in a vertebrate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

Limb–girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071669

Immunoelectron microscopic localization of dystrophin in myofibres

26 November 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR047

Biosynthesis of dystroglycan: processing of a precursor propeptide

21 January 2018

1 reference

12 December 2020

Mutations affecting skeletal muscle myofibril structure in the zebrafish

1 reference

12 December 2020

Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse

1 reference

12 December 2020

Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy

1 reference

12 December 2020

Intracellular localization of dysferlin and its association with the dihydropyridine receptor

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDR047

1 reference

14 October 2017

1 reference

14 October 2017

PubMed publication ID

21296866

1 reference