Zebrafish models for human FKRP muscular dystrophies (Q33594227)

28 July 2017

title

Zebrafish models for human FKRP muscular dystrophies (English)

1 reference

28 July 2017

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Genri Kawahara

1

1 reference

28 July 2017

Jeffrey R Guyon

series ordinal

2

1 reference

28 July 2017

Yukio Nakamura

series ordinal

3

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28 July 2017

Louis M Kunkel

series ordinal

4

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28 July 2017

publication date

1 December 2009

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28 July 2017

published in

Human Molecular Genetics

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28 July 2017

volume

19

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28 July 2017

issue

4

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28 July 2017

page(s)

623-633

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Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin

28 July 2017

cites work

1 reference

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Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

21 June 2018

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

21 June 2018

1 reference

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Zebrafish orthologs of human muscular dystrophy genes

21 June 2018

1 reference

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The childhood limb-girdle muscular dystrophies

21 June 2018

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Modeling human muscle disease in zebrafish

21 June 2018

1 reference

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Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.

21 June 2018

1 reference

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Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish

21 June 2018

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Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

21 June 2018

1 reference

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Dystroglycan: from biosynthesis to pathogenesis of human disease.

21 June 2018

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

21 June 2018

1 reference

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Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation

21 June 2018

1 reference

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Glyc-O-genetics of Walker-Warburg syndrome

21 June 2018

1 reference

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Dystroglycan: important player in skeletal muscle and beyond

21 June 2018

1 reference

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Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

21 June 2018

1 reference

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New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

21 June 2018

1 reference

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The zebrafish as a model for muscular dystrophy and congenital myopathy

21 June 2018

1 reference

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The dystrophin associated protein complex in zebrafish

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

A stoichiometric complex of neurexins and dystroglycan in brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

Stages of embryonic development of the zebrafish

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

Genes required for functional glycosylation of dystroglycan are conserved in zebrafish

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

Delta-sarcoglycan is required for early zebrafish muscle organization

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

The phenotype of limb-girdle muscular dystrophy type 2I

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807370

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19955119

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/19955119

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDP528

1 reference

28 July 2017

1 reference

28 July 2017

1 reference