Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.
chondrodysplasia
congenital disorder of glycosylation
dislocations
genotype-phenotype correlation
glycosaminoglycan
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
15
12
2020
accepted:
04
05
2021
entrez:
5
7
2021
pubmed:
6
7
2021
medline:
6
7
2021
Statut:
epublish
Résumé
Chondrodysplasias with multiple dislocations form a group of severe disorders characterized by joint laxity and multiple dislocations, severe short stature of pre- and post-natal onset, hand anomalies, and/or vertebral anomalies. The majority of chondrodysplasias with multiple dislocations have been associated with mutations in genes encoding glycosyltransferases, sulfotransferases, and transporters implicated in the synthesis or sulfation of glycosaminoglycans, long and unbranched polysaccharides composed of repeated disaccharide bond to protein core of proteoglycan. Glycosaminoglycan biosynthesis is a tightly regulated process that occurs mainly in the Golgi and that requires the coordinated action of numerous enzymes and transporters as well as an adequate Golgi environment. Any disturbances of this chain of reactions will lead to the incapacity of a cell to construct correct glycanic chains. This review focuses on genetic and glycobiological studies of chondrodysplasias with multiple dislocations associated with glycosaminoglycan biosynthesis defects and related animal models. Strong comprehension of the molecular mechanisms leading to those disorders, mostly through extensive phenotypic analyses of
Identifiants
pubmed: 34220933
doi: 10.3389/fgene.2021.642097
pmc: PMC8242584
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
642097Informations de copyright
Copyright © 2021 Dubail and Cormier-Daire.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer AR declared a past co-authorship with one of the authors VC-D to the handling editor.
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