Literature DB >> 23457301

Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.

Shuji Mizumoto1, Shiro Ikegawa, Kazuyuki Sugahara.   

Abstract

A number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of sulfated glycosaminoglycan (GAG) side chains of proteoglycans, including chondroitin sulfate, dermatan sulfate, and heparan sulfate. The phenotypes of these genetic disorders reflect disturbances in crucial biological functions of GAGs in human. Recent studies have revealed that mutations in genes encoding chondroitin sulfate and dermatan sulfate biosynthetic enzymes cause various disorders of connective tissues. This minireview focuses on growing glycobiological studies of recently described genetic diseases caused by disturbances in biosynthetic enzymes for sulfated GAGs.

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23457301      PMCID： PMC3630846          DOI： 10.1074/jbc.R112.437038

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


  96 in total

Review 1.  The cell biology of lysosomal storage disorders.

Authors:  Anthony H Futerman; Gerrit van Meer
Journal:  Nat Rev Mol Cell Biol       Date:  2004-07       Impact factor: 94.444

2.  A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome.

Authors:  E Quentin; A Gladen; L Rodén; H Kresse
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

3.  Biosynthesis of chondroitin sulfate: interaction between xylosyltransferase and galactosyltransferase.

Authors:  N B Schwartz; L Rodén; A Dorfman
Journal:  Biochem Biophys Res Commun       Date:  1974-02-04       Impact factor: 3.575

4.  Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings.

Authors:  H H Steel; E J Kohl
Journal:  J Bone Joint Surg Am       Date:  1972-01       Impact factor: 5.284

5.  Biosynthesis of dermatan sulfate. I. Formation of L-iduronic acid residues.

Authors:  A Malmström; L A Fransson
Journal:  J Biol Chem       Date:  1975-05-10       Impact factor: 5.157

6.  Biosynthesis of dermatan sulfate. II. Substrate specificity of the C-5 uronosyl epimerase.

Authors:  A Malmström
Journal:  J Biol Chem       Date:  1984-01-10       Impact factor: 5.157

7.  Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.

Authors:  A Rajab; J Kunze; Stefan Mundlos
Journal:  Am J Med Genet A       Date:  2004-05-01       Impact factor: 2.802

8.  A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.

Authors:  Muhammad Faiyaz-Ul-Haque; Syed Hassan Ejaz Zaidi; Mariam Al-Ali; Mariam S Al-Mureikhi; Shelley Kennedy; Ghalia Al-Thani; Lap-Chee Tsui; Ahmad Said Teebi
Journal:  Am J Med Genet A       Date:  2004-07-01       Impact factor: 2.802

9.  Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

Authors:  Holger Thiele; Masahiro Sakano; Hiroshi Kitagawa; Kazuyuki Sugahara; Anna Rajab; Wolfgang Höhne; Heide Ritter; Gundula Leschik; Peter Nürnberg; Stefan Mundlos
Journal:  Proc Natl Acad Sci U S A       Date:  2004-06-23       Impact factor: 11.205

10.  Molecular cloning and expression of chick chondrocyte chondroitin 6-sulfotransferase.

Authors:  M Fukuta; K Uchimura; K Nakashima; M Kato; K Kimata; T Shinomura; O Habuchi
Journal:  J Biol Chem       Date:  1995-08-04       Impact factor: 5.157
View more
  39 in total

1.  The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Authors:  Andreas R Janecke; Ben Li; Manfred Boehm; Birgit Krabichler; Marianne Rohrbach; Thomas Müller; Irene Fuchs; Gretchen Golas; Yasuhiro Katagiri; Shira G Ziegler; William A Gahl; Yael Wilnai; Nicoletta Zoppi; Herbert M Geller; Cecilia Giunta; Anne Slavotinek; Beat Steinmann
Journal:  Am J Med Genet A       Date:  2015-09-16       Impact factor: 2.802

2.  Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases.

Authors:  M Cristina Kenney; Marilyn Chwa; Shari R Atilano; Payam Falatoonzadeh; Claudio Ramirez; Deepika Malik; Mohamed Tarek; Javier Cáceres Del Carpio; Anthony B Nesburn; David S Boyer; Baruch D Kuppermann; Marquis P Vawter; S Michal Jazwinski; Michael V Miceli; Douglas C Wallace; Nitin Udar
Journal:  Biochim Biophys Acta       Date:  2013-11-04

3.  Identification of chondroitin sulfate linkage region glycopeptides reveals prohormones as a novel class of proteoglycans.

Authors:  Fredrik Noborn; Alejandro Gomez Toledo; Carina Sihlbom; Johan Lengqvist; Erik Fries; Lena Kjellén; Jonas Nilsson; Göran Larson
Journal:  Mol Cell Proteomics       Date:  2014-10-17       Impact factor: 5.911

4.  Expanding the chondroitin glycoproteome of Caenorhabditis elegans.

Authors:  Fredrik Noborn; Alejandro Gomez Toledo; Waqas Nasir; Jonas Nilsson; Tabea Dierker; Lena Kjellén; Göran Larson
Journal:  J Biol Chem       Date:  2017-11-14       Impact factor: 5.157

5.  A novel eliminase from a marine bacterium that degrades hyaluronan and chondroitin sulfate.

Authors:  Wenjun Han; Wenshuang Wang; Mei Zhao; Kazuyuki Sugahara; Fuchuan Li
Journal:  J Biol Chem       Date:  2014-08-13       Impact factor: 5.157

Review 6.  Notch Signaling and the Skeleton.

Authors:  Stefano Zanotti; Ernesto Canalis
Journal:  Endocr Rev       Date:  2016-04-13       Impact factor: 19.871

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

Authors:  Peraphan Pothacharoen; Sumet Najarus; Jongkolnee Settakorn; Shuji Mizumoto; Kazuyuki Sugahara; Prachya Kongtawelert
Journal:  Glycoconj J       Date:  2013-12-12       Impact factor: 2.916

8.  Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

Authors:  Birgit S Budde; Shuji Mizumoto; Ryo Kogawa; Christian Becker; Janine Altmüller; Holger Thiele; Franz Rüschendorf; Mohammad R Toliat; Gerrit Kaleschke; Johannes M Hämmerle; Wolfgang Höhne; Kazuyuki Sugahara; Peter Nürnberg; Ingo Kennerknecht
Journal:  Hum Genet       Date:  2015-04-19       Impact factor: 4.132

Review 9.  Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Authors:  Florin Sasarman; Catalina Maftei; Philippe M Campeau; Catherine Brunel-Guitton; Grant A Mitchell; Pierre Allard
Journal:  J Inherit Metab Dis       Date:  2015-12-21       Impact factor: 4.982

Review 10.  Characterization of C. elegans Chondroitin Proteoglycans and Their Large Functional and Structural Heterogeneity; Evolutionary Aspects on Structural Differences Between Humans and the Nematode.

Authors:  Fredrik Noborn; Göran Larson
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.