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Article

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

FEBS letters - 24 Sept 2010

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

Abstract excerpt

β1,4-Galactosyltransferase 7 (β4GalT7) is a key enzyme initiating glycosaminoglycan (GAG) synthesis. Based on in vitro and ex vivo kinetics studies and structure-based modelling, we molecularly characterized β4GalT7 mutants linked to the progeroid form of Ehlers-Danlos syndrome (EDS), a severe co...

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Identifiers

PMID: 20691685
DOI: 10.1016/j.febslet.2010.08.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20691685-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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