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Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis

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...

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Autores principales: Dubail, Johanne, Cormier-Daire, Valérie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8242584/
https://www.ncbi.nlm.nih.gov/pubmed/34220933
http://dx.doi.org/10.3389/fgene.2021.642097
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author Dubail, Johanne
Cormier-Daire, Valérie
author_facet Dubail, Johanne
Cormier-Daire, Valérie
author_sort Dubail, Johanne
collection PubMed
description 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 in vitro and/or in vivo models, is essential for the development of novel biomarkers for clinical screenings and innovative therapeutics for these diseases.
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spelling pubmed-82425842021-07-01 Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis Dubail, Johanne Cormier-Daire, Valérie Front Genet Genetics 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 in vitro and/or in vivo models, is essential for the development of novel biomarkers for clinical screenings and innovative therapeutics for these diseases. Frontiers Media S.A. 2021-06-16 /pmc/articles/PMC8242584/ /pubmed/34220933 http://dx.doi.org/10.3389/fgene.2021.642097 Text en Copyright © 2021 Dubail and Cormier-Daire. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Dubail, Johanne
Cormier-Daire, Valérie
Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis
title Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis
title_full Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis
title_fullStr Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis
title_full_unstemmed Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis
title_short Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis
title_sort chondrodysplasias with multiple dislocations caused by defects in glycosaminoglycan synthesis
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8242584/
https://www.ncbi.nlm.nih.gov/pubmed/34220933
http://dx.doi.org/10.3389/fgene.2021.642097
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