Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome (Q24561808)

object named as

Han G Brunner

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Bru Cormand

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ORCID Public Data File 2021

author name string

Daniel Beltrán-Valero de Bernabé

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Sophie Currier

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Alice Steinbrecher

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Jacopo Celli

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Ellen van Beusekom

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Bert van der Zwaag

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David Chitayat

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Ana-Elina Lehesjoki

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Jesús Cruces

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Thomas Voit

American Journal of Human Genetics

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language of work or name

English

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publication date

November 2002

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published in

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volume

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issue

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page(s)

1033-43

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cites work

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family

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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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27 September 2017

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27 September 2017

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27 September 2017

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Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

27 September 2017

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Distinct functions of alpha3 and alpha(v) integrin receptors in neuronal migration and laminar organization of the cerebral cortex

30 May 2018

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30 May 2018

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Essential role of alpha 6 integrins in cortical and retinal lamination

30 May 2018

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Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain

30 May 2018

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Walker-Warburg syndrome: Neurologic features and muscle membrane structure

30 May 2018

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The reeler gene encodes a protein with an EGF–like motif expressed by pioneer neurons

30 May 2018

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Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice

30 May 2018

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

30 May 2018

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

28 November 2018

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High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419999

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419999

Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419999

Brain contains HNK-1 immunoreactive O-glycans of the sulfoglucuronyl lactosamine series that terminate in 2-linked or 2,6-linked hexose (mannose).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419999

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

28 November 2018

1 reference

12 December 2020

Laminin 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy)

1 reference

12 December 2020

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects

1 reference

12 December 2020

Protein O-mannosylation

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/342975

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1 reference

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PubMed publication ID

12369018

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