Skeletal Dysplasias Caused by Sulfation Defects.

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_0257CE41F1A7
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Skeletal Dysplasias Caused by Sulfation Defects.
Journal
International journal of molecular sciences
Author(s)
Paganini C., Gramegna Tota C., Superti-Furga A., Rossi A.
ISSN
1422-0067 (Electronic)
ISSN-L
1422-0067
Publication state
Published
Issued date
14/04/2020
Peer-reviewed
Oui
Volume
21
Number
8
Pages
2710
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: epublish
Abstract
Proteoglycans (PGs) are macromolecules present on the cell surface and in the extracellular matrix that confer specific mechanical, biochemical, and physical properties to tissues. Sulfate groups present on glycosaminoglycans, linear polysaccharide chains attached to PG core proteins, are fundamental for correct PG functions. Indeed, through the negative charge of sulfate groups, PGs interact with extracellular matrix molecules and bind growth factors regulating tissue structure and cell behavior. The maintenance of correct sulfate metabolism is important in tissue development and function, particularly in cartilage where PGs are fundamental and abundant components of the extracellular matrix. In chondrocytes, the main sulfate source is the extracellular space, then sulfate is taken up and activated in the cytosol to the universal sulfate donor to be used in sulfotransferase reactions. Alteration in each step of sulfate metabolism can affect macromolecular sulfation, leading to the onset of diseases that affect mainly cartilage and bone. This review presents a panoramic view of skeletal dysplasias caused by mutations in genes encoding for transporters or enzymes involved in macromolecular sulfation. Future research in this field will contribute to the understanding of the disease pathogenesis, allowing the development of targeted therapies aimed at alleviating, preventing, or modifying the disease progression.
Keywords
Animals, Bone Diseases, Developmental/etiology, Bone Diseases, Developmental/metabolism, Cartilage/metabolism, Disease Susceptibility, Energy Metabolism/genetics, Extracellular Matrix, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Glycosaminoglycans/metabolism, Humans, Metabolic Networks and Pathways, Phenotype, Protein Processing, Post-Translational, Proteoglycans/metabolism, Sulfates/metabolism, cartilage, genotype phenotype correlation, glycosaminoglycan, proteoglycan, skeletal disorders, sulfate metabolism, sulfotransferase
Pubmed
Web of science
Open Access
Yes
Create date
25/04/2020 20:15
Last modification date
23/01/2021 7:21
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