Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.

Détails

ID Serval
serval:BIB_606EDC8CBB95
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
Périodique
The FEBS journal
Auteur⸱e⸱s
Paganini C., Costantini R., Superti-Furga A., Rossi A.
ISSN
1742-4658 (Electronic)
ISSN-L
1742-464X
Statut éditorial
Publié
Date de publication
08/2019
Peer-reviewed
Oui
Volume
286
Numéro
15
Pages
3008-3032
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Résumé
Glycosaminoglycans (GAGs) are a heterogeneous family of linear polysaccharides that constitute the carbohydrate moiety covalently attached to the protein core of proteoglycans, macromolecules present on the cell surface and in the extracellular matrix. Several genetic disorders of bone and connective tissue are caused by mutations in genes encoding for glycosyltransferases, sulfotransferases and transporters that are responsible for the synthesis of sulfated GAGs. Phenotypically, these disorders all reflect alterations in crucial biological functions of GAGs in the development, growth and homoeostasis of cartilage and bone. To date, up to 27 different skeletal phenotypes have been linked to mutations in 23 genes encoding for proteins involved in GAG biosynthesis. This review focuses on recent genetic, molecular and biochemical studies of bone and connective tissue disorders caused by GAG synthesis defects. These insights and future research in the field will provide a deeper understanding of the molecular pathogenesis of these disorders and will pave the way for developing common therapeutic strategies that might be targeted to a range of individual phenotypes.
Mots-clé
Animals, Connective Tissue Diseases/genetics, Connective Tissue Diseases/metabolism, Glycosaminoglycans/biosynthesis, Glycosaminoglycans/genetics, Humans, Mutation, Osteochondrodysplasias/genetics, Osteochondrodysplasias/metabolism, Phenotype, Golgi, endoplasmic reticulum, genotype phenotype correlation, glycosaminoglycans, glycosyltransferases, proteoglycans, skeletal disorders, sulfotransferases
Pubmed
Web of science
Open Access
Oui
Financement(s)
Université de Lausanne
Création de la notice
21/07/2019 16:06
Dernière modification de la notice
20/06/2020 6:18
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