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

FEBS Letters

Volumn 584, Issue 18, 2010, Pages 3962-3968

  Bui, Catherine ^a   Talhaoui, Ibtissam ^a   Chabel, Matthieu ^a   Mulliert, Guillermo ^a   Coughtrie, Michael W H ^b   Ouzzine, Mohamed ^a   Fournel Gigleux, Sylvie ^a,c  

^a UNIVERSITÉ DE LORRAINE   (France)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Congenital glycosyltransferase disorder; Ehlers Danlos syndrome; Galactosyltransferase defect; Glycosaminoglycan synthesis; Point mutation

Indexed keywords

BETA 1,4 GALACTOSYLTRANSFERASE 7; GALACTOSYLTRANSFERASE; GLYCOSAMINOGLYCAN; GLYCOSIDE; UNCLASSIFIED DRUG; XYLOSIDE; XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; CHO CELL; COMPUTER MODEL; CONTROLLED STUDY; DISEASE CLASSIFICATION; EHLERS DANLOS SYNDROME; ENZYME ACTIVITY; ENZYME STRUCTURE; EX VIVO STUDY; GENETIC ASSOCIATION; GLYCOSAMINOGLYCAN METABOLISM; HETEROLOGOUS EXPRESSION; HUMAN; IN VITRO STUDY; LINKAGE ANALYSIS; MOLECULAR MODEL; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FOLDING; SITE DIRECTED MUTAGENESIS; ANIMAL; BIOSYNTHESIS; CHEMICAL STRUCTURE; CHEMISTRY; CHO CELL LINE; CRICETULUS; ENZYMOLOGY; GENETICS; HAMSTER; METABOLISM; MUTATION;

ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; EHLERS-DANLOS SYNDROME; GALACTOSYLTRANSFERASES; GLYCOSAMINOGLYCANS; HUMANS; MODELS, MOLECULAR; MUTATION;

EID: 77956937211     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2010.08.001     Document Type: Article

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