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- W2960448439 endingPage "3032" @default.
- W2960448439 startingPage "3008" @default.
- W2960448439 abstract "Glycosaminoglycans ( GAG s) 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 GAG s. Phenotypically, these disorders all reflect alterations in crucial biological functions of GAG s 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." @default.
- W2960448439 created "2019-07-23" @default.
- W2960448439 creator A5008025123 @default.
- W2960448439 creator A5025916343 @default.
- W2960448439 creator A5037283642 @default.
- W2960448439 creator A5043470145 @default.
- W2960448439 date "2019-07-25" @default.
- W2960448439 modified "2023-10-17" @default.
- W2960448439 title "Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view" @default.
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