POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations (Q30590282)

18 October 2017

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations (English)

1 reference

18 October 2017

Protein O-mannose kinase

1 reference

GOA release 2020-03-11

author

Timothy W Yu

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24925318%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Emanuela Gussoni

13

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8 June 2020

Simona Saredi

6

1 reference

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8 June 2020

Mustafa A. Salih

11

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8 June 2020

Marina Mora

12

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8 June 2020

M. Chiara Manzini

15

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8 June 2020

14

Christopher A Walsh

1 reference

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8 June 2020

Chiara Pantaleoni

5

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ORCID Public Data File 2021

author name string

Stefania Di Costanzo

1

1 reference

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8 June 2020

Anuradha Balasubramanian

2

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8 June 2020

Heather L Pond

3

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8 June 2020

Anete Rozkalne

4

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8 June 2020

Vandana A Gupta

7

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8 June 2020

Christine M Sunu

8

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8 June 2020

Peter B Kang

10

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8 June 2020

publication date

11 June 2014

1 reference

18 October 2017

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24925318%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

23

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8 June 2020

issue

21

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8 June 2020

page(s)

5781-5792

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describes a project that uses

8 June 2020

SQL

1 reference

26 June 2022

https://europepmc.org/article/PMC/PMC4189906

based on heuristic

inferred from PubMed Central ID database lookup

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SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function

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Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

20 June 2018

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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

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Human fetal skeletal muscle contains a myogenic side population that expresses the melanoma cell-adhesion molecule

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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

20 June 2018

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Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

20 June 2018

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20 June 2018

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Three-dimensional regulation of radial glial functions by Lis1-Nde1 and dystrophin glycoprotein complexes

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Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

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GPR124, an orphan G protein-coupled receptor, is required for CNS-specific vascularization and establishment of the blood-brain barrier

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Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

20 June 2018

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The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

20 June 2018

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Angiogenic sprouting into neural tissue requires Gpr124, an orphan G protein-coupled receptor.

20 June 2018

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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

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O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

20 June 2018

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20 June 2018

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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

20 June 2018

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20 June 2018

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

20 June 2018

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Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

20 June 2018

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20 June 2018

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Diagnostic criteria for Walker-Warburg syndrome

20 June 2018

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

20 June 2018

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Characterization of site-specific O-glycan structures within the mucin-like domain of alpha-dystroglycan from human skeletal muscle

21 January 2018

1 reference

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POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

21 January 2018

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Time course of the development of motor behaviors in the zebrafish embryo

21 January 2018

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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDU296

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24925318%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24925318%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

24925318

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24925318%20AND%20SRC:MED&resulttype=core&format=json