Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation (Q34198632)

31 July 2017

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

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31 July 2017

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Cristina Capanni

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31 July 2017

Stefano Squarzoni

9

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Giovanna Lattanzi

object named as

Giovanna Lattanzi

5

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Luciano Merlini

object named as

Luciano Merlini

10

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Nadir M. Maraldi

6

object named as

Nadir M Maraldi

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31 July 2017

1

Patrizia Sabatelli

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31 July 2017

2

Marta Columbaro

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31 July 2017

Isabella Mura

3

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31 July 2017

Daniel Beltràn-Valero de Barnabè

7

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31 July 2017

Hans van Bokoven

8

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31 July 2017

language of work or name

English

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publication date

1 May 2003

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Biochimica et Biophysica Acta

31 July 2017

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31 July 2017

1638

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31 July 2017

1

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31 July 2017

57-62

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

31 July 2017

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

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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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

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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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Muscular dystrophies, the cytoskeleton and cell adhesion

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

The complexities of dystroglycan

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

The laminin alpha2 expressed by dystrophic dy(2J) mice is defective in its ability to form polymers

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Mutations in the integrin alpha7 gene cause congenital myopathy

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Dystroglycan binding to laminin alpha1LG4 module influences epithelial morphogenesis of salivary gland and lung in vitro

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Defective glycosylation in muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Neural regulation of alpha-dystroglycan biosynthesis and glycosylation in skeletal muscle

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Laminin polymerization induces a receptor-cytoskeleton network

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Dystroglycan is not required for localization of dystrophin, syntrophin, and neuronal nitric-oxide synthase at the sarcolemma but regulates integrin alpha 7B expression and caveolin-3 distribution

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Muscle pathology and clinical features of the sarcolemmopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Activation of caspase-3 apoptotic pathways in skeletal muscle fibers in laminin alpha2-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Evidence of the mannosylation of a non-histone protein in monkey liver chromatin

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

O-GlcNAc and the control of gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Phosphorylation and glycosylation of nucleoporins

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

Nucleocytoplasmic O-glycosylation: O-GlcNAc and functional proteomics

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900040-1

7 January 2021

10.1016/S0925-4439(03)00040-1

Identifiers

DOI

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31 July 2017

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