Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS)-Reference-Cited by-同舟云学术

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

Published:2010-08-05 Issue:18 Volume:584 Page:3962-3968
ISSN:0014-5793
Container-title:FEBS Letters
language:en
Short-container-title:

Author:

Bui Catherine,Talhaoui Ibtissam,Chabel Matthieu,Mulliert Guillermo,Coughtrie Michael W.H.,Ouzzine Mohamed,Fournel-Gigleux Sylvie

Funder

The Agence Nationale de la Recherche

Publisher

Wiley

Subject

Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics

Reference26 articles.

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2. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type;Faiyaz-Ul-Haque;Am. J. Med. Genet. A,2004

3. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome;Quentin;Proc. Natl. Acad. Sci. USA,1990

4. Molecular basis for the progeroid variant of Ehlers–Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene;Okajima;J. Biol. Chem.,1999

5. 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 (β4GalT-7);Seidler;J. Mol. Med.,2006

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