(Q42917956)

11 November 2017

title

POMT1 is essential for protein O-mannosylation in mammals (English)

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11 November 2017

Mark Lommel

1

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11 November 2017

Tobias Willer

series ordinal

2

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11 November 2017

Jesús Cruces

series ordinal

3

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11 November 2017

Sabine Strahl

series ordinal

4

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11 November 2017

language of work or name

English

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publication date

1 January 2010

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11 November 2017

published in

Methods in Enzymology

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11 November 2017

volume

479

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11 November 2017

page(s)

323-342

1 reference

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

11 November 2017

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7 January 2021

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

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7 January 2021

Intermediate filaments and the function of the dystrophin-protein complex

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7 January 2021

Initiation of mammalian O-mannosylation in vivo is independent of a consensus sequence and controlled by peptide regions within and upstream of the alpha-dystroglycan mucin domain

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Pathophysiology of duchenne muscular dystrophy: current hypotheses

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

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7 January 2021

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

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7 January 2021

Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan

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7 January 2021

Abnormal glycosylation of dystroglycan in human genetic disease

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7 January 2021

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

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7 January 2021

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.

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7 January 2021

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

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7 January 2021

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

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7 January 2021

Protein glycosylation, conserved from yeast to man: a model organism helps elucidate congenital human diseases

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7 January 2021

A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)

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7 January 2021

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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7 January 2021

Protein O-mannosylation: conserved from bacteria to humans

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7 January 2021

POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo

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7 January 2021

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro.

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7 January 2021

Defective glycosylation in congenital muscular dystrophies

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7 January 2021

Dystrophin protects the sarcolemma from stresses developed during muscle contraction

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7 January 2021

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

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7 January 2021

Development of Reichert's membrane in the early mouse embryo

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2810%2979018-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2810%2979018-2

7 January 2021

10.1016/S0076-6879(10)79018-2

Identifiers

DOI

1 reference

11 November 2017

1 reference