List of works - Shuji Mizumoto

A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoo

scientific article published on 30 September 2011

Analysis of the structure and neuritogenic activity of chondroitin sulfate/dermatan sulfate hybrid chains from porcine fetal membranes.

scientific article published on 29 August 2009

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

scientific article published on 03 December 2019

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

scientific article published on 7 September 2016

Chondroitin sulfate protects vascular endothelial cells from toxicities of extracellular histones

scientific article published on 28 February 2018

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

scientific article

Compositional analysis of the glycosaminoglycan family in velvet antlers of Sika deer (Cervus nippon) at different growing stages

scientific article published on 24 January 2019

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

scientific article published on 15 October 2013

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency

scientific article

Dermatan sulfate epimerase 2 is the predominant isozyme in the formation of the chondroitin sulfate/dermatan sulfate hybrid structure in postnatal developing mouse brain ⬇️

scientific article published on December 21, 2010

Development of a mouse monoclonal antibody against the chondroitin sulfate-protein linkage region derived from shark cartilage.

scientific article

Effects of sesamin on the biosynthesis of chondroitin sulfate proteoglycans in human articular chondrocytes in primary culture.

scientific article published on 12 December 2013

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.

scientific article

Glycosaminoglycan Chain Analysis and Characterization (Glycosylation/Epimerization) ⬇️

scientific article published on 01 January 2012

Glycosaminoglycans are functional ligands for receptor for advanced glycation end-products in tumors.

scientific article published on 24 February 2013

Highly sulfated hexasaccharide sequences isolated from chondroitin sulfate of shark fin cartilage: insights into the sugar sequences with bioactivities.

scientific article

Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans ⬇️

scientific article published on April 19, 2013

Human genetic disorders and knockout mice deficient in glycosaminoglycan

scientific article

Hyaluronidase-4 is produced by mast cells and can cleave serglycin chondroitin sulfate chains into lower molecular weight forms ⬇️

scientific article published on 07 June 2019

Hyaluronidases Have Strong Hydrolytic Activity toward Chondroitin 4-Sulfate Comparable to that for Hyaluronan.

scientific article published on 12 November 2012

ISCSM2011 chondroitin sulfate E-type structure at tumor cell surface is involved in experimental metastasis.

scientific article published on January 2012

Identification of a novel chondroitin hydrolase in Caenorhabditis elegans.

scientific article

Identification of amino acid residues required for the substrate specificity of human and mouse chondroitin sulfate hydrolase (conventional hyaluronidase-4)

scientific journal article

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

scientific article published on 23 March 2017

Identification of human hyaluronidase-4 as a novel chondroitin sulfate hydrolase that preferentially cleaves the galactosaminidic linkage in the trisulfated tetrasaccharide sequence.

scientific article published on 4 November 2009

Identification of novel LFNG mutations in spondylocostal dysostosis

scientific article published on 10 December 2018

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

scientific article published on 21 March 2018

Interaction of chondroitin sulfate and dermatan sulfate from various biological sources with heparin-binding growth factors and cytokines ⬇️

scientific article published on December 29, 2012

Involvement of human natural killer-1 (HNK-1) sulfotransferase in the biosynthesis of the GlcUA(3-O-sulfate)-Gal-Gal-Xyl tetrasaccharide found in α-thrombomodulin from human urine.

scientific article

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

scientific article

Molecular interactions between chondroitin-dermatan sulfate and growth factors/receptors/matrix proteins

scientific article published on 09 July 2015

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

scientific article published on 9 May 2013

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

scientific article published on 25 October 2015

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

scientific article

Pivotal Role of Carbohydrate Sulfotransferase 15 in Fibrosis and Mucosal Healing in Mouse Colitis

scientific article

Proteoglycans and glycosaminoglycans improve toughness of biocompatible double network hydrogels

scientific article

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome

scientific article published on 29 December 2019

Receptor for advanced glycation end products (RAGE) functions as receptor for specific sulfated glycosaminoglycans, and anti-RAGE antibody or sulfated glycosaminoglycans delivered in vivo inhibit pulmonary metastasis of tumor cells.

scientific article

Receptor protein tyrosine phosphatase beta/zeta is a functional binding partner for vascular endothelial growth factor

scientific article

Roles of two types of heparan sulfate clusters in Wnt distribution and signaling in Xenopus.

scientific article published on 7 December 2017

Screening of known disease genes in congenital scoliosis

scientific article published on 09 September 2018

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

scientific article published on 01 September 2008

Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14

scientific article published on 13 December 2018

Sulfation patterns of exogenous chondroitin sulfate affect chondrogenic differentiation of ATDC5 cells.

scientific article published on 11 September 2014

Synthesis of the glycosaminoglycan-protein linkage tetraosyl peptide moieties of betaglycan, which serve as a hexosamine acceptor for enzymatic glycosyl transfer

scientific article published on 31 August 2010

The reduction of heparan sulphate in the glomerular basement membrane does not augment urinary albumin excretion.

scientific article

Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.

scientific article published in December 2017

List of works by Shuji Mizumoto

A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoo

Analysis of the structure and neuritogenic activity of chondroitin sulfate/dermatan sulfate hybrid chains from porcine fetal membranes.

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Chondroitin sulfate protects vascular endothelial cells from toxicities of extracellular histones

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Compositional analysis of the glycosaminoglycan family in velvet antlers of Sika deer (Cervus nippon) at different growing stages

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency

Dermatan sulfate epimerase 2 is the predominant isozyme in the formation of the chondroitin sulfate/dermatan sulfate hybrid structure in postnatal developing mouse brain ⬇️

Development of a mouse monoclonal antibody against the chondroitin sulfate-protein linkage region derived from shark cartilage.

Effects of sesamin on the biosynthesis of chondroitin sulfate proteoglycans in human articular chondrocytes in primary culture.

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.

Glycosaminoglycan Chain Analysis and Characterization (Glycosylation/Epimerization) ⬇️

Glycosaminoglycans are functional ligands for receptor for advanced glycation end-products in tumors.

Highly sulfated hexasaccharide sequences isolated from chondroitin sulfate of shark fin cartilage: insights into the sugar sequences with bioactivities.

Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans ⬇️

Human genetic disorders and knockout mice deficient in glycosaminoglycan

Hyaluronidase-4 is produced by mast cells and can cleave serglycin chondroitin sulfate chains into lower molecular weight forms ⬇️

Hyaluronidases Have Strong Hydrolytic Activity toward Chondroitin 4-Sulfate Comparable to that for Hyaluronan.

ISCSM2011 chondroitin sulfate E-type structure at tumor cell surface is involved in experimental metastasis.

Identification of a novel chondroitin hydrolase in Caenorhabditis elegans.

Identification of amino acid residues required for the substrate specificity of human and mouse chondroitin sulfate hydrolase (conventional hyaluronidase-4)

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Identification of human hyaluronidase-4 as a novel chondroitin sulfate hydrolase that preferentially cleaves the galactosaminidic linkage in the trisulfated tetrasaccharide sequence.

Identification of novel LFNG mutations in spondylocostal dysostosis

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

Interaction of chondroitin sulfate and dermatan sulfate from various biological sources with heparin-binding growth factors and cytokines ⬇️

Involvement of human natural killer-1 (HNK-1) sulfotransferase in the biosynthesis of the GlcUA(3-O-sulfate)-Gal-Gal-Xyl tetrasaccharide found in α-thrombomodulin from human urine.

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Molecular interactions between chondroitin-dermatan sulfate and growth factors/receptors/matrix proteins

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Pivotal Role of Carbohydrate Sulfotransferase 15 in Fibrosis and Mucosal Healing in Mouse Colitis

Proteoglycans and glycosaminoglycans improve toughness of biocompatible double network hydrogels

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome

Receptor for advanced glycation end products (RAGE) functions as receptor for specific sulfated glycosaminoglycans, and anti-RAGE antibody or sulfated glycosaminoglycans delivered in vivo inhibit pulmonary metastasis of tumor cells.

Receptor protein tyrosine phosphatase beta/zeta is a functional binding partner for vascular endothelial growth factor

Roles of two types of heparan sulfate clusters in Wnt distribution and signaling in Xenopus.

Screening of known disease genes in congenital scoliosis

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14

Sulfation patterns of exogenous chondroitin sulfate affect chondrogenic differentiation of ATDC5 cells.

Synthesis of the glycosaminoglycan-protein linkage tetraosyl peptide moieties of betaglycan, which serve as a hexosamine acceptor for enzymatic glycosyl transfer

The reduction of heparan sulphate in the glomerular basement membrane does not augment urinary albumin excretion.

Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.