(Q33991629)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

0 references

0 references

1 reference

GOA release 2020-03-11

Rotated abdomen Dmel_CG6097

1 reference

GOA release 2020-03-11

author

Morio Ueyama

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

Yoshihiro Akimoto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Tomomi Ichimiya

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Ryu Ueda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Hayato Kawakami

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Toshiro Aigaki

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Shoko Nishihara

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

language of work or name

English

0 references

publication date

13 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

e11557

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

8 February 2020

copyright license

start time

13 July 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

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New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

5 July 2018

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Dissecting muscle and neuronal disorders in a Drosophila model of muscular dystrophy

5 July 2018

1 reference

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Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Perlecan and Dystroglycan act at the basal side of the Drosophila follicular epithelium to maintain epithelial organization

5 July 2018

1 reference

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Dystroglycan down-regulation links EGF receptor signaling and anterior-posterior polarity formation in the Drosophila oocyte

5 July 2018

1 reference

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The twisted gene encodes Drosophila protein O-mannosyltransferase 2 and genetically interacts with the rotated abdomen gene encoding Drosophila protein O-mannosyltransferase 1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Dystroglycan is required for polarizing the epithelial cells and the oocyte in Drosophila.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Muscular dystrophy into the new millennium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Muscular dystrophy--reason for optimism?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Cleavage and shedding of E-cadherin after induction of apoptosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Conservation of components of the dystrophin complex in Drosophila.

5 July 2018

1 reference

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Molecular basis of muscular dystrophies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Muscle pattern diversification in Drosophila: the story of imaginal myogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

wing blister, a new Drosophila laminin alpha chain required for cell adhesion and migration during embryonic and imaginal development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Laminin is required for heart, somatic muscles, and gut development in the Drosophila embryo.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Transposition of cloned P elements into Drosophila germ line chromosomes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Diagnostic criteria for Walker-Warburg syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling

5 July 2018

1 reference

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Hydrocephaly, Congenital Retinal Nonattachment, And Congenital Falciform Fold

5 July 2018

1 reference

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Stages in fibre breakdown in Duchenne muscular dystrophy. An electron-microscopic study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

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

5 July 2018

1 reference

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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Glycosylation eases muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Synaptic defects in a Drosophila model of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

The dystrophin / utrophin homologues in Drosophila and in sea urchin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Proteoglycan UDP-galactose:beta-xylose beta 1,4-galactosyltransferase I is essential for viability in Drosophila melanogaster

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Identification of the primary caspase 3 cleavage site in alpha II-spectrin during apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

A Bit-role for integrins in apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Absence of PS integrins or laminin A affects extracellular adhesion, but not intracellular assembly, of hemiadherens and neuromuscular junctions in Drosophila embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Coordinated development of muscles and tendons of the Drosophila leg.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Targeted gene expression in Drosophila dopaminergic cells using regulatory sequences from tyrosine hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Efficient measurement of H2O2 resistance in Drosophila using an activity monitor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Neural circuitry that governs Drosophila male courtship behavior.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Changes in temperature preferences and energy homeostasis in dystroglycan mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011557

Null mutations in the alpha PS2 and beta PS integrin subunit genes have distinct phenotypes.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903483

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20644630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A role for dystroglycan in basement membrane assembly

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20644630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Klotho protein deficiency leads to overactivation of mu-calpain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20644630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0011557

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20644630%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference