Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. (Q30400284)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease (English)

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24 January 2020

7

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24 January 2020

Josef Voglmeir

1

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24 January 2020

Marco M Meloni

4

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24 January 2020

Iain B. Wilson

6

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24 January 2020

author name string

Sara Kaloo

2

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24 January 2020

Nicolas Laurent

3

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24 January 2020

Lisa Bohlmann

5

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24 January 2020

language of work or name

English

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publication date

1 June 2011

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24 January 2020

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24 January 2020

volume

436

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24 January 2020

issue

2

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24 January 2020

page(s)

447-455

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Creative Commons Attribution 3.0 Unported

24 January 2020

copyright license

start time

25 July 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

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Cloning and expression of a novel UDP-GlcNAc:α-d-mannoside β1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:α-3-d-mannoside β1,2-N-acetylglucosaminyltransferase I

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POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

21 January 2018

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21 January 2018

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Mutations that allow disulfide bond formation in the cytoplasm of Escherichia coli.

21 January 2018

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Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.

21 January 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

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Total synthesis of the mollu-series glycosyl ceramides alpha-D-Manp-(1----3)-beta-D-Manp-(1----4)-beta-D-Glcp-(1----1)-Cer and alpha-D-Manp-(1----3)-[beta-D-Xylp-(1----2)]-beta-D-Manp-(1----4)-beta- D-Glcp-(1----1)-Cer

21 January 2018

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The alpha-helical peptide nucleic acid concept: merger of peptide secondary structure and codified nucleic acid recognition

21 January 2018

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[Muscle-eye-brain disease. Presentation of one case with genetic study.]

21 January 2018

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12 December 2020

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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12 December 2020

Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases

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12 December 2020

Pediatric reference ranges for creatine kinase, CKMB, Troponin I, iron, and cortisol

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Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy

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12 December 2020

Identifiers

DOI

10.1042/BJ20101059

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference