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

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

(2019) Tomasz M. Witkos et al.   Nature Communications

Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias

(2019) Chao Zheng et al.   EBioMedicine

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia

(2019) Yukiko Kuroda et al.   CLINICAL GENETICS

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

(2018) Angel Ashikov et al.   HUMAN MOLECULAR GENETICS

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

(2018) Tim Van Damme et al.   HUMAN MOLECULAR GENETICS

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

(2018) Wing Lee Chan et al.   PLoS Genetics

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

(2018) Johanne Dubail et al.   Nature Communications

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

(2018) Amy J. LaCroix et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

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

(2018) Takuya Hirose et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

(2017) Kevin Yauy et al.   GENETICS IN MEDICINE

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

(2017) Long Guo et al.   JOURNAL OF HUMAN GENETICS

The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses

(2017) Maurizio Pacifici   MATRIX BIOLOGY

Roles of CSGalNAcT1, a key enzyme in regulation of CS synthesis, in neuronal regeneration and plasticity

(2017) Michihiro Igarashi et al.   NEUROCHEMISTRY INTERNATIONAL

Targeting heparin and heparan sulfate protein interactions

(2017) Ryan J. Weiss et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

Extracellular matrix structure

(2016) Achilleas D. Theocharis et al.   ADVANCED DRUG DELIVERY REVIEWS

The plasma membrane protein Rch1 is a negative regulator of cytosolic calcium homeostasis and positively regulated by the calcium/calcineurin signaling pathway in budding yeast

(2016) Yunying Zhao et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

(2016) Anas M. Alazami et al.   HUMAN GENETICS

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

(2016) Julia Vodopiutz et al.   HUMAN MUTATION

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

(2016) Fulya Taylan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

(2016) Long Guo et al.   JOURNAL OF HUMAN GENETICS

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

(2015) Craig F. Munns et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due toCHST14mutations

(2015) Andreas R. Janecke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

(2015) Kelly L. Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia

(2015) Luca Monti et al.   HUMAN MOLECULAR GENETICS

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

(2015) Delfien Syx et al.   HUMAN MUTATION

Glycosaminoglycans: Sorting determinants in intracellular protein traffic

(2015) Deyan Mihov et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

(2015) Shuji Mizumoto et al.   Biomed Research International

Treatment options for osteogenesis imperfecta

(2015) Roberta Besio et al.   Expert Opinion on Orphan Drugs

New therapeutic targets in rare genetic skeletal diseases

(2015) Michael D Briggs et al.   Expert Opinion on Orphan Drugs

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

(2014) Nadja Ehmke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

XYLT1 Mutations in Desbuquois Dysplasia Type 2

(2014) Catherine Bui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

(2014) François Cartault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Altered Signaling in the G1 Phase Deregulates Chondrocyte Growth in a Mouse Model With Proteoglycan Undersulfation

(2014) Fabio De Leonardis et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

(2014) Shinkai Inoue et al.   PEDIATRICS INTERNATIONAL

Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis

(2014) J. Wen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Metabolism of Cartilage Proteoglycans in Health and Disease

(2014) Demitrios H. Vynios   Biomed Research International

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

(2014) Shuji Mizumoto et al.   Biomed Research International

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

(2013) Masahiro Nakajima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

(2013) Fransiska Malfait et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1

(2013) Tomomi Izumikawa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Biosynthesis and function of chondroitin sulfate

(2013) Tadahisa Mikami et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length

(2013) Emily K. Mis et al.   DEVELOPMENTAL BIOLOGY

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

(2013) Julia Schreml et al.   HUMAN GENETICS

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome

(2013) Thomas Müller et al.   HUMAN MOLECULAR GENETICS

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused byPAPSS2Mutations

(2013) Aritoshi Iida et al.   HUMAN MUTATION

UDP-N-acetylglucosamine Transporter (SLC35A3) Regulates Biosynthesis of Highly BranchedN-Glycans and Keratan Sulfate

(2013) Dorota Maszczak-Seneczko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

(2013) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

The extostosin family: Proteins with many functions

(2013) Marta Busse-Wicher et al.   MATRIX BIOLOGY

CaRch1p does not functionally interact with the high-affinity Ca2+influx system (HACS) ofCandida albicans

(2013) Joerg Alber et al.   YEAST

IMPAD1mutations in two Catel-Manzke like patients

(2012) Mathilde Nizon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning

(2012) Deanna G. Wilson et al.   DEVELOPMENTAL BIOLOGY

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

(2012) Mathilde Nizon et al.   HUMAN MUTATION

PAPSS2mutations cause autosomal recessive brachyolmia

(2012) Noriko Miyake et al.   JOURNAL OF MEDICAL GENETICS

Human PAPS Synthase Isoforms Are Dynamically Regulated Enzymes with Access to Nucleus and Cytoplasm

(2012) Elisabeth Schröder et al.   PLoS One

Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice

(2012) P. Vogel et al.   VETERINARY PATHOLOGY

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

(2011) Lisenka E.L.M. Vissers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

(2011) Sevjidmaa Baasanjav et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

(2011) Franco Laccone et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hyaluronan binding identifies the most proliferative activated and memory T cells

(2011) Nina Maeshima et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Hyaluronan as an Immune Regulator in Human Diseases

(2011) Dianhua Jiang et al.   PHYSIOLOGICAL REVIEWS

Mutations in fam20b and xylt1 Reveal That Cartilage Matrix Controls Timing of Endochondral Ossification by Inhibiting Chondrocyte Maturation

(2011) B. Frank Eames et al.   PLoS Genetics

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

(2010) Yun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

(2010) Jing Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

(2010) Sheila Unger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

(2010) Ok-Hwa Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation ofCANT1causes Desbuquois dysplasia

(2010) Maha Faden et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development

(2010) Yumi Watanabe et al.   BIOCHEMICAL JOURNAL

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

(2010) Fransiska Malfait et al.   HUMAN MUTATION

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

(2010) Noriko Miyake et al.   HUMAN MUTATION

Chondroitin SulfateN-Acetylgalactosaminyltransferase 1 Is Necessary for Normal Endochondral Ossification and Aggrecan Metabolism

(2010) Takashi Sato et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies

(2010) Kazumasa Saigoh et al.   JOURNAL OF HUMAN GENETICS

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

(2010) T. Furuichi et al.   JOURNAL OF MEDICAL GENETICS

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling

(2010) Benedetta Gualeni et al.   MATRIX BIOLOGY

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

(2009) Munis Dündar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CANT1 Mutations in Desbuquois Dysplasia

(2009) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel missense mutation inSCYL1BP1produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

(2009) Mohammed Al-Dosari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Proteoglycans: from structural compounds to signaling molecules

(2009) Liliana Schaefer et al.   CELL AND TISSUE RESEARCH

Structural and biochemical aspects of keratan sulphate in the cornea

(2009) Andrew J. Quantock et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation inCHST3

(2009) B Tuysuz et al.   CLINICAL GENETICS

Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate

(2009) M. Cortes et al.   DEVELOPMENT

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

(2009) Ivy Jennes et al.   HUMAN MUTATION

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

(2009) T Furuichi et al.   JOURNAL OF MEDICAL GENETICS

InactivatingPAPSS2Mutations in a Patient with Premature Pubarche

(2009) Cees Noordam et al.   NEW ENGLAND JOURNAL OF MEDICINE

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

(2008) Pia Hermanns et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

(2008) Anna Rajab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

(2008) Mirjam H.H. van Roij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

JAWS coordinates chondrogenesis and synovial joint positioning

(2008) M. L. Sohaskey et al.   DEVELOPMENT

Catel–Manzke syndrome: Two new patients and a critical review of the literature

(2008) Hermann Manzke et al.   European Journal of Medical Genetics

Identification of Chondroitin Sulfate Glucuronyltransferase as Chondroitin Synthase-3 Involved in Chondroitin Polymerization

(2008) Tomomi Izumikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

2-O-Phosphorylation of Xylose and 6-O-Sulfation of Galactose in the Protein Linkage Region of Glycosaminoglycans Influence the Glucuronyltransferase-I Activity Involved in the Linkage Region Synthesis

(2008) Yuko Tone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pericellular Hyaluronan Coat Visualized in Live Cells With a Fluorescent Probe Is Scaffolded by Plasma Membrane Protrusions

(2008) Kirsi Rilla et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

(2008) Hans Christian Hennies et al.   NATURE GENETICS

A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation

(2008) J. P. Frederick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA