(Q42943978)

English

Molecular characterization of β1,4‐galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS)

scientific article published on August 6, 2010

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Europe PubMed Central

PubMed publication ID

11 November 2017

Molecular characterization of β1,4‐galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS) (English)

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most precise value

1 reference

10.1016/J.FEBSLET.2010.08.001

https://api.crossref.org/works/10.1016/J.FEBSLET.2010.08.001

18 June 2024

Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS) (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20691685

18 June 2024

Ehlers-Danlos syndrome

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Michael Coughtrie

5

object named as

Michael W. H. Coughtrie

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20691685

18 June 2024

author name string

Catherine Bui

1

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Europe PubMed Central

PubMed publication ID

11 November 2017

Ibtissam Talhaoui

2

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Europe PubMed Central

PubMed publication ID

11 November 2017

Matthieu Chabel

3

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Europe PubMed Central

PubMed publication ID

11 November 2017

Guillermo Mulliert

4

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

Mohamed Ouzzine

6

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Europe PubMed Central

PubMed publication ID

11 November 2017

Sylvie Fournel-Gigleux

7

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Europe PubMed Central

PubMed publication ID

11 November 2017

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publication date

6 August 2010

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11 November 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2Fj.febslet.2010.08.001

1 reference

10.1016/J.FEBSLET.2010.08.001

https://api.crossref.org/works/10.1016/J.FEBSLET.2010.08.001

18 June 2024

https://febs.onlinelibrary.wiley.com/doi/pdf/10.1016/j.febslet.2010.08.001

1 reference

10.1016/J.FEBSLET.2010.08.001

https://api.crossref.org/works/10.1016/J.FEBSLET.2010.08.001

18 June 2024

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

584

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Europe PubMed Central

PubMed publication ID

11 November 2017

18

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Europe PubMed Central

PubMed publication ID

11 November 2017

3962-3968

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Europe PubMed Central

PubMed publication ID

11 November 2017

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.08.001

21 January 2018

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

1 reference

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21 January 2018

Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)

1 reference

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21 January 2018

Interactions between heparan sulfate and proteins: the concept of specificity

1 reference

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21 January 2018

Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family

1 reference

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21 January 2018

Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-pro

1 reference

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21 January 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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21 January 2018

Identification of aspartic acid and histidine residues mediating the reaction mechanism and the substrate specificity of the human UDP-glucuronosyltransferases 1A.

1 reference

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21 January 2018

Studies on the metal binding sites in the catalytic domain of beta1,4-galactosyltransferase

1 reference

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21 January 2018

Epigenetics: methylation-associated repression of heparan sulfate 3-O-sulfotransferase gene expression contributes to the invasive phenotype of H-EMC-SS chondrosarcoma cells

1 reference

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21 January 2018

Developmental changes in heparan sulfate expression: in situ detection with mAbs

1 reference

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21 January 2018

Comparative protein modelling by satisfaction of spatial restraints

1 reference

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21 January 2018

Crystal structure of beta1,4-galactosyltransferase complex with UDP-Gal reveals an oligosaccharide acceptor binding site

1 reference

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21 January 2018

Dali server: conservation mapping in 3D

1 reference

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21 January 2018

Galectin-1 as a fusion partner for the production of soluble and folded human beta-1,4-galactosyltransferase-T7 in E. coli

1 reference

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21 January 2018

Crystal Structure of the Catalytic Domain of Drosophila β1,4-Galactosyltransferase-7

1 reference

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21 January 2018

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

2

1 reference

10.1016/J.FEBSLET.2010.08.001

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18 June 2024

Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.

6

1 reference

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18 June 2024

Inhibition of chondroitin and heparan sulfate biosynthesis in Chinese hamster ovary cell mutants defective in galactosyltransferase I.

12

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18 June 2024

A unified method for the assay of uridine diphosphoglucuronyltransferase activities toward various aglycones using uridine diphospho[U-14C]glucuronic acid

14

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18 June 2024

Identifiers

10.1016/J.FEBSLET.2010.08.001

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

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