Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. (Q37090108)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19017726%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

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

1 reference

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17 January 2020

1 reference

13

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17 January 2020

Kevin P Campbell

18

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17 January 2020

Mariko Taniguchi-Ikeda

8

object named as

Mariko Taniguchi

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17 January 2020

author name string

Motoi Kanagawa

1

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17 January 2020

Akemi Nishimoto

2

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17 January 2020

Tomohiro Chiyonobu

3

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17 January 2020

Satoshi Takeda

4

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17 January 2020

Yuko Miyagoe-Suzuki

5

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17 January 2020

Fan Wang

6

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17 January 2020

Nobuhiro Fujikake

7

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17 January 2020

Zhongpeng Lu

9

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17 January 2020

Masaji Tachikawa

10

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17 January 2020

Yoshitaka Nagai

11

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17 January 2020

Fumi Tashiro

12

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17 January 2020

Youichi Tajima

14

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17 January 2020

Shin'ichi Takeda

15

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17 January 2020

Tamao Endo

16

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17 January 2020

Kazuhiro Kobayashi

17

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17 January 2020

Tatsushi Toda

19

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17 January 2020

publication date

18 November 2008

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17 January 2020

published in

Human Molecular Genetics

1 reference

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17 January 2020

volume

18

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17 January 2020

page(s)

621-631

1 reference

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17 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19017726%20AND%20SRC:MED&resulttype=core&format=json

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

17 January 2020

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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

29 September 2017

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29 September 2017

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29 September 2017

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Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding

29 September 2017

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29 September 2017

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Molecular recognition by LARGE is essential for expression of functional dystroglycan

29 September 2017

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29 September 2017

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29 September 2017

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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

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family

29 September 2017

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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27 June 2018

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27 June 2018

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27 June 2018

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3 September 2018

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3 September 2018

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3 September 2018

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LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

3 September 2018

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3 September 2018

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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

3 September 2018

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

3 September 2018

1 reference

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Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

3 September 2018

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Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle.

3 September 2018

1 reference

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Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDN387

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19017726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19017726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDN387

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19017726%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19017726%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference