Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality (Q28512333)

GOA release 2020-03-11

author

Martin Hrabě de Angelis

9

0 references

Juan M Falcón-Pérez

object named as

Juan Manuel Falcón-Pérez

3

0 references

Eckhard Wolf

object named as

Eckhard Wolf

11

0 references

author name string

Tobias Willer

1

1 reference

25 January 2017

Belén Prados

2

1 reference

25 January 2017

Ingrid Renner-Müller

4

1 reference

25 January 2017

Gerhard K. H. Przemeck

5

1 reference

25 January 2017

Mark Lommel

6

1 reference

25 January 2017

Antonio Coloma

7

1 reference

25 January 2017

M. Carmen Valero

8

1 reference

25 January 2017

Widmar Tanner

10

1 reference

25 January 2017

Sabine Strahl

12

1 reference

25 January 2017

Jesús Cruces

Proceedings of the National Academy of Sciences of the United States of America

13

1 reference

25 January 2017

language of work or name

English

0 references

publication date

28 September 2004

1 reference

25 January 2017

1 reference

25 January 2017

101

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25 January 2017

39

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25 January 2017

14126–14131

1 reference

25 January 2017

Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Members of the evolutionarily conserved PMT family of protein O-mannosyltransferases form distinct protein complexes among themselves

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

PMT1, the gene for a key enzyme of protein O-glycosylation in Saccharomyces cerevisiae

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

19 March 2017

1 reference

Crossref

https://api.crossref.org/works/10.1073/PNAS.0405899101

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Defective glycosylation in congenital muscular dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Glycosylation in congenital muscular dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

The effects of post-translational processing on dystroglycan synthesis and trafficking

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

O-mannosyl glycans: from yeast to novel associations with human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Distinct roles for dystroglycan, beta1 integrin and perlecan in cell surface laminin organization.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

The complexities of dystroglycan

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Supramolecular assembly of basement membranes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

Paradox segmentation along inter- and intrasomitic borderlines is followed by dysmorphology of the axial skeleton in the open brain (opb) mouse mutant.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521095

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

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0405899101

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0405899101

Development of Reichert's membrane in the early mouse embryo

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15383666

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/15383666

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Protein O-mannosylation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15383666

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0405899101

1 reference

2685427

ADS bibcode

2004PNAS..10114126W

0 references

2685427

1 reference

1 reference

1 reference