[HTML][HTML] Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans

S Mizumoto, S Ikegawa, K Sugahara - Journal of Biological Chemistry, 2013 - ASBMB
A number of genetic disorders are caused by mutations in the genes encoding
glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of …

Human genetic disorders and knockout mice deficient in glycosaminoglycan

S Mizumoto, S Yamada… - BioMed research …, 2014 - Wiley Online Library
Glycosaminoglycans (GAGs) are constructed through the stepwise addition of respective
monosaccharides by various glycosyltransferases and maturated by epimerases and …

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

C Paganini, R Costantini, A Superti‐Furga… - The FEBS …, 2019 - Wiley Online Library
Glycosaminoglycans (GAG s) are a heterogeneous family of linear polysaccharides that
constitute the carbohydrate moiety covalently attached to the protein core of proteoglycans …

Mutations in biosynthetic enzymes for the protein linker region of chondroitin/dermatan/heparan sulfate cause skeletal and skin dysplasias

S Mizumoto, S Yamada… - BioMed research …, 2015 - Wiley Online Library
Glycosaminoglycans, including chondroitin, dermatan, and heparan sulfate, have various
roles in a wide range of biological events such as cell signaling, cell proliferation, tissue …

[HTML][HTML] Pathophysiological significance of dermatan sulfate proteoglycans revealed by human genetic disorders

S Mizumoto, T Kosho, S Yamada, K Sugahara - Pharmaceuticals, 2017 - mdpi.com
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been
demonstrated in various biological events including construction of the extracellular matrix …

Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans

K Sugahara, H Kitagawa - Current opinion in structural biology, 2000 - Elsevier
Recent cDNA cloning of the glycosyltransferases involved in the synthesis of the sulfated
glycosaminoglycan sidechains of proteoglycans has provided important clues to answering …

[HTML][HTML] Congenital disorders of deficiency in glycosaminoglycan biosynthesis

S Mizumoto, S Yamada - Frontiers in genetics, 2021 - frontiersin.org
Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan
sulfate are covalently attached to specific core proteins to form proteoglycans, which are …

The roles of chondroitin-4-sulfotransferase-1 in development and disease

M Klüppel - Progress in molecular biology and translational …, 2010 - Elsevier
The glycosaminoglycan chondroitin sulfate (CS) consists of long linear chains of repeating
disaccharide units, which are covalently attached to core proteins to form CS-proteoglycans …

[HTML][HTML] Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the …

A Rossi, J Bonaventure, AL Delezoide, G Cetta… - Journal of Biological …, 1996 - ASBMB
Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by
mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti …

[HTML][HTML] Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates

S Bhattacharyya, K Kotlo, S Shukla… - Journal of Biological …, 2008 - ASBMB
The sulfatase enzymes, N-acetylgalactosamine-4-sulfatase (arylsulfatase B (ASB)) and
galactose-6-sulfatase (GALNS) hydrolyze sulfate groups of CS. Deficiencies of ASB and …