CHST6

Summary

Gene Symbol: CHST6
Description: carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
Alias: MCDC1, C-GlcNAc6ST, GST4-beta, N-acetylglucosamine 6-O-sulfotransferase 5, carbohydrate sulfotransferase 6, corneal N-acetylglucosamine 6-sulfotransferase, corneal N-acetylglucosamine-6-O-sulfotransferase, galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta, glcNAc6ST-5, gn6st-5, hCGn6ST
Species: human

Top Publications

  1. ncbi Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland
    N P Liu
    Department of Ophthalmology and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Vis 6:261-4. 2000
  2. ncbi Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity
    Nobuko Iida-Hasegawa
    Department of Ophthalmology, School of Medicine, Juntendo University, Tokyo, Japan
    Invest Ophthalmol Vis Sci 44:3272-7. 2003
  3. ncbi Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy
    Nguyen Thanh Ha
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 44:3310-6. 2003
  4. ncbi Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations
    Nguyen Thanh Ha
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Cornea 22:508-11. 2003
  5. ncbi Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India
    John F Warren
    Francis I Proctor Foundation and the Department of Ophthalmology, University of California San Francisco, 94143 0944, USA
    Arch Ophthalmol 121:1608-12. 2003
  6. ncbi Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India
    Afia Sultana
    Kallam Anji Reddy Molecular Genetics Laboratory, Professor Brien Holden Eye Research Centre, Hyderabad 500 034, India
    Mol Vis 9:730-4. 2003
  7. ncbi Novel mutations in the CHST6 gene causing macular corneal dystrophy
    C Abbruzzese
    Laboratory of Tissue Engineering I D I, Istituto Dermopatico dell Immacolata, Rome, Italy
    Clin Genet 65:120-5. 2004
  8. ncbi Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy
    Anthony J Aldave
    Cornea Service, The Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
    Am J Ophthalmol 137:465-73. 2004
  9. ncbi Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Am J Ophthalmol 139:192-3. 2005
  10. ncbi Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
    A Sultana
    Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad, India
    Clin Genet 68:454-60. 2005

Research Grants

  1. Biosynthetic pathway of corneal keratan sulfate
    TOMOYA AKAMA; Fiscal Year: 2007
  2. Macular Corneal Dystrophy-Molecular Pathobiology
    Gordon Klintworth; Fiscal Year: 2005
  3. Cloning/Gene/Posterior Polymorphous corneal dystrophy
    ANTHONY ALDAVE; Fiscal Year: 2007

Scientific Experts

  • G K Klintworth
  • Nguyen Thanh Ha
  • Anthony J Aldave
  • Ning pu Liu
  • C Gruenauer-Kloevekorn
  • P Liskova
  • Sophie Groux Degroote
  • Mohamed F El-Ashry
  • Tomoya O Akama
  • Gloria M Calaf
  • A Kobayashi
  • Shiva Akbari Birgani
  • Afia Sultana
  • Preeti Paliwal
  • Dhara A Patel
  • Ya nan Huo
  • Zari Dastani
  • Enzo Di Iorio
  • Zuguo Liu
  • Yan hua Qi
  • Zheng Wang
  • Nan Zhou
  • Hong Su
  • Ting Liang
  • Xiuhong Dang
  • Guo Yun Chen
  • Sophie Groux-Degroote
  • Vivek S Yellore
  • Robert D Young
  • Keiko Fujiki
  • Akira Murakami
  • S Hemmerich
  • Atsushi Kanai
  • R Gulias-Cañizo
  • Chitra Kannabiran
  • A Sultana
  • Eugene J Thonar
  • C Abbruzzese
  • Christopher L de Graffenried
  • Florence Niel
  • John F Warren
  • Nobuko Iida-Hasegawa
  • Namrata Sharma
  • S Bhakta
  • Rasik B Vajpayee
  • Radhika Tandon
  • Seema Sen
  • A Bartes
  • Jeevan S Titiyal
  • Arundhati Sharma
  • ANDREW JW HUANG
  • Yu feng Yao
  • Anthony J Lubniewski
  • Smita C Vora
  • George J Harocopos
  • Ping Yu
  • Shu Hong Chang
  • Xin Tian
  • Adriano Fasolo
  • M J Spiro
  • K Uchimura
  • Xiu Hong Dang
  • Paivi Pajukanta
  • Daniel Gaudet
  • Jenny C Lee
  • Janet Faith
  • Vanessa Barbaro
  • Jill Platko
  • Renato Arnaldi
  • Diego Ponzin
  • Barbara Ferrari
  • James C Engert
  • Michel Marcil
  • Nobuko Iida
  • Wei Wang
  • Nicholas Rudzicz
  • John Rioux
  • Shang Zhi Huang
  • Paolo Brusini
  • Swneke D Bailey
  • Zhizhong Ma
  • Peiying Xie
  • Nicola Volpi
  • Jacques Genest
  • Mathieu Lemire
  • Isabelle Ruel
  • Giovanni Prosdocimo
  • Marina Bertolin
  • Thomas J Hudson
  • Stefano Ferrari

Detail Information

Publications49

  1. ncbi Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland
    N P Liu
    Department of Ophthalmology and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Vis 6:261-4. 2000
    ..Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD...
  2. ncbi Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity
    Nobuko Iida-Hasegawa
    Department of Ophthalmology, School of Medicine, Juntendo University, Tokyo, Japan
    Invest Ophthalmol Vis Sci 44:3272-7. 2003
    ..The carbohydrate sulfotransferase 6 (CHST6) gene, which encodes the corneal N-acetylglucosamine 6-O-sulfotransferase on 16q22 has been ..
  3. ncbi Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy
    Nguyen Thanh Ha
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 44:3310-6. 2003
    Mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal N-acetylglucosamine-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of macular corneal dystrophy (MCD) in various ethnicities...
  4. ncbi Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations
    Nguyen Thanh Ha
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Cornea 22:508-11. 2003
    ..To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2 generations...
  5. ncbi Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India
    John F Warren
    Francis I Proctor Foundation and the Department of Ophthalmology, University of California San Francisco, 94143 0944, USA
    Arch Ophthalmol 121:1608-12. 2003
    To further characterize the role of the carbohydrate sulfotransferase (CHST6) gene in macular corneal dystrophy (MCD) through identification of causative mutations in a cohort of affected patients from southern India.
  6. ncbi Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India
    Afia Sultana
    Kallam Anji Reddy Molecular Genetics Laboratory, Professor Brien Holden Eye Research Centre, Hyderabad 500 034, India
    Mol Vis 9:730-4. 2003
    ..It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, encoding corneal N-acetyl glucosamine-6-O-sulfotransferase (C-GlcNAc-6-ST)...
  7. ncbi Novel mutations in the CHST6 gene causing macular corneal dystrophy
    C Abbruzzese
    Laboratory of Tissue Engineering I D I, Istituto Dermopatico dell Immacolata, Rome, Italy
    Clin Genet 65:120-5. 2004
    ..characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large ..
  8. ncbi Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy
    Anthony J Aldave
    Cornea Service, The Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
    Am J Ophthalmol 137:465-73. 2004
    To further characterize the mutations within the CHST6 gene responsible for causing macular corneal dystrophy in a cohort of affected patients from the United States.
  9. ncbi Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Am J Ophthalmol 139:192-3. 2005
    To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene.
  10. ncbi Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
    A Sultana
    Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad, India
    Clin Genet 68:454-60. 2005
    ..It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, which codes for the enzyme corneal N-acetylglucosamine-6-sulfotransferase...
  11. ncbi CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review
    Gordon K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
    Mol Vis 12:159-76. 2006
    To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD).
  12. ncbi Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland
    Ning pu Liu
    Beijing Tongren Eye Center, Capital University of Medical Sciences, Beijing, China
    Mol Vis 12:1148-52. 2006
    To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland.
  13. ncbi Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options
    Claudia Gruenauer-Kloevekorn
    Department of Ophthalmology, Martin Luther University Halle, Ernst Grube Str 40, 06097 Halle, Germany
    Graefes Arch Clin Exp Ophthalmol 246:1441-7. 2008
    ..The objective of this study was to investigate genotype-phenotype correlations, the consequences for surgical treatment, and the therapeutical options in patients with macular corneal dystrophy (MCD)...
  14. ncbi Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy
    Florence Niel
    Laboratory of Biochemistry and Molecular Genetics, Hospital, Cochin, Paris, France
    Invest Ophthalmol Vis Sci 44:2949-53. 2003
    Identification of mutations in the CHST6 gene in 15 patients from 11 unrelated families affected with recessive macular corneal dystrophy (MCD).
  15. ncbi Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation
    P Liskova
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
    Br J Ophthalmol 92:265-7. 2008
    To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients.
  16. ncbi Linkage of a gene for macular corneal dystrophy to chromosome 16
    J M Vance
    Department of Medicine, Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710 2900, USA
    Am J Hum Genet 58:757-62. 1996
    ..50 at a recombination fraction of .00 was obtained for the MCD type II families, by use of the identical marker. These findings raise the possibility that MCD type II may be due to the same genetic locus that is involved in MCD type I...
  17. ncbi Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship
    Ning pu Liu
    Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
    Am J Ophthalmol 139:1118-20. 2005
    The aim of this study was to examine the carbohydrate sulfotransferase 6 (CHST6) gene for mutations in a sibship with both macular corneal dystrophy (MCD) types I and II.
  18. ncbi Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene
    T O Akama
    Glycobiology Program, The Burnham Institute, La Jolla, California, USA
    Nat Genet 26:237-41. 2000
    ..Here we identify a new carbohydrate sulphotransferase gene (CHST6), encoding an enzyme designated corneal N-acetylglucosamine-6-sulphotransferase (C-GlcNAc6ST), within the critical ..
  19. ncbi Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate
    T O Akama
    Glycobiology Program, The Burnham Institute, La Jolla, California 92037, USA
    J Biol Chem 276:16271-8. 2001
    Human corneal N-acetylglucosamine 6-O-sulfotransferase (hCGn6ST) has been identified by the positional candidate approach as the gene responsible for macular corneal dystrophy (MCD)...
  20. ncbi Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta)
    A Bartes
    Department of Respiratory Diseases, Roche Bioscience, 3401 Hillview Avenue, Palo Alto, California 94304, USA
    Biochem Biophys Res Commun 282:928-33. 2001
    ..While I-GlcNAc6T is expressed mostly in intestinal tissue, larger C-GlcNAc6ST transcripts are found predominantly in the brain...
  21. ncbi Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:377-82. 2002
    ..Recently, mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal glucosamine N-acetyl-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of MCD...
  22. ncbi Molecular genetic analysis of macular corneal dystrophy patients from North India
    Preeti Paliwal
    Laboratory of Cyto Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
    Ophthalmic Res 48:28-32. 2012
    To identify underlying genetic defects in the carbohydrate sulfotransferase-6 (CHST6) gene in North Indian patients with macular corneal dystrophy (MCD).
  23. ncbi Significance of NF-kappaB/GATA axis in tumor necrosis factor-alpha-induced expression of 6-sulfated cell recognition glycans in human T-lymphocytes
    Guo Yun Chen
    Department of Molecular Pathology, Aichi Cancer Center, Nagoya 464 8681, Japan
    J Biol Chem 283:34563-70. 2008
    ..In line with this, in vitro differentiation of human T cells to Th2 cells was found to significantly induce GlcNAc6ST-1 transcription and 6-sulfated glycan expression...
  24. ncbi Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy
    Shiva Akbari Birgani
    Department of Biology, University of Guilan Medical Science, Rasht, Iran
    Mol Vis 15:373-7. 2009
    To characterize mutations within the carbohydrate sulfotransferase 6 (CHST6) gene in Iranian subjects from 12 families with macular corneal dystrophy (MCD).
  25. ncbi Corneal dystrophies
    Gordon K Klintworth
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
    Orphanet J Rare Dis 4:7. 2009
    ..Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes...
  26. ncbi Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
    Afia Sultana
    Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, L V Prasad Eye Institute, Hyderabad, India
    Mol Vis 15:319-25. 2009
    To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene.
  27. ncbi Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
    Ya nan Huo
    Department of Ophthalmology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China
    J Zhejiang Univ Sci B 12:687-93. 2011
    ..To investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a phenotype-genotype correlation...
  28. ncbi Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6
    Xiuhong Dang
    Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China
    Mol Vis 15:700-5. 2009
    To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea.
  29. ncbi Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy
    Dhara A Patel
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Cornea 30:664-9. 2011
    To investigate the possible mutations in the carbohydrate sulfotransferase 6 (CHST6) gene of 2 unrelated cases of macular corneal dystrophy (MCD) and to report atypical stromal deposits in one of them.
  30. ncbi Molecular genetic study of Egyptian patients with macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Br J Ophthalmol 94:250-5. 2010
    ..To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy (MCD)...
  31. ncbi Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy
    Zuguo Liu
    Eye Institute, The Xiamen University Medical College, Xiamen, Fujian, China
    Cornea 29:883-8. 2010
    To examine the carbohydrate sulfotransferase 6 (CHST6) gene in Chinese patients with macular corneal dystrophy (MCD).
  32. ncbi Localization and expression of CHST6 and keratan sulfate proteoglycans in the human cornea
    Enzo Di Iorio
    The Veneto Eye Bank Foundation, Via Paccagnella 11, c o Padiglione Giovanni Rama, 30174 Zelarino Venice, Italy
    Exp Eye Res 91:293-9. 2010
    ..MCD; OMIM 217800) is a rare autosomal recessive inherited disorder caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) and characterised by the presence of unsulfated keratan sulfate proteoglycans (KSPGs) forming ..
  33. ncbi [Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family]
    Yan hua Qi
    Department of Ophthalmology, Second Affiliated Hospital of Harbin Medicine University, Harbin 150086, China
    Zhonghua Yan Ke Za Zhi 46:161-5. 2010
    The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD.
  34. ncbi Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects
    Zari Dastani
    Cardiovascular Genetics Laboratory, McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada
    Eur J Hum Genet 18:342-7. 2010
    ..The coding regions of all genes within this region were sequenced. A missense variant in CHST6 segregated in four families and, with additional families, we observed a P value of 0.015 for this variant...
  35. ncbi Human drug metabolism genes in parathion-and estrogen-treated breast cells
    G M Calaf
    Instituto de Alta Investigación, Universidad de Tarapaca, Calle Antofagasta 1520, Arica, Chile
    Int J Mol Med 20:875-81. 2007
    ..Among the genes altered by parathion in comparison to the control were CHST5, CHST6 and CHST7 (sulfotransferases); CYP2F1, CYP3A7 and CYP4F3 (CYPs); GSTP1, GSTT2 and MGST1 (GSTs); MT1X (..
  36. ncbi IL-6 and IL-8 increase the expression of glycosyltransferases and sulfotransferases involved in the biosynthesis of sialylated and/or sulfated Lewisx epitopes in the human bronchial mucosa
    Sophie Groux-Degroote
    Unite de Glycobiologie Structurale et Fonctionnelle, UMR CNRS no 8576, Batiment C9, Universite des Sciences et Technologies de Lille, F 59655 Villeneuve d Ascq, Lille, France
    Biochem J 410:213-23. 2008
    ..2 gene)] and GlcNAc-6-O-sulfotransferases [CHST4 (carbohydrate sulfotransferase 4 gene) and CHST6] mRNA...
  37. ncbi Diversity of N-acetylglucosamine-6-O-sulfotransferases: molecular cloning of a novel enzyme with different distribution and specificities
    K Uchimura
    Department of Biochemistry, Nagoya University School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, 466 8550, Japan
    Biochem Biophys Res Commun 274:291-6. 2000
    ..The distribution and the specificity of GlcNAc6ST are different from those of GlcNAc6STs identified previously...
  38. ncbi Sulfation of the N-linked oligosaccharides of influenza virus hemagglutinin: temporal relationships and localization of sulfotransferases
    M J Spiro
    Elliott P Joslin Research Laboratory, Joslin Diabetes Center and the Department of Medicine, Harvard Medical School, Boston, MA 02215, USA
    Glycobiology 10:1235-42. 2000
    ....
  39. ncbi Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family
    S Hemmerich
    Department of Respiratory Diseases, Roche Bioscience, Palo Alto, CA 94304, USA
    Glycobiology 11:75-87. 2001
    ..5'UTRs of the same enzyme expressed in different cell types are sometimes derived from different exons located upstream of the ORF. The genomic organization of the GSTs resembles that of certain glycosyltransferase gene families...
  40. ncbi Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate
    Tomoya O Akama
    Glycobiology Program, The Burnham Institute, La Jolla, California 92037, USA
    J Biol Chem 277:42505-13. 2002
    Among the enzymes of the carbohydrate sulfotransferase family, human corneal GlcNAc 6-O-sulfotransferase (hCGn6ST, also known as human GlcNAc6ST-5/GST4beta) and human intestinal GlcNAc 6-O-sulfotransferase (hIGn6ST or human GlcNAc6ST-3/..
  41. ncbi Central discoid corneal dystrophy
    Anthony J Aldave
    Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California 90095, USA
    Cornea 21:739-44. 2002
    ..To present a small kindred with a unique dominantly inherited corneal stromal dystrophy...
  42. ncbi The molecular genetics of the corneal dystrophies--current status
    Gordon K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Front Biosci 8:d687-713. 2003
    ..Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them ..
  43. ncbi The stem region of the sulfotransferase GlcNAc6ST-1 is a determinant of substrate specificity
    Christopher L de Graffenried
    Department of Chemistry, University of California, Berkeley, California 94720, USA
    J Biol Chem 279:40035-43. 2004
    ..Collectively, these results indicate that the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention...
  44. ncbi Sulfation of the human immunodeficiency virus envelope glycoprotein
    H B Bernstein
    Department of Microbiology, University of Alabama, Birmingham 35294
    J Virol 66:6953-9. 1992
    ..Sulfation is a major determinant of negative charge and could play a role in biological functions and antigenic properties of HIV glycoproteins...
  45. ncbi [Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]
    R Gulias-Cañizo
    Servicio de Patología Oftálmica, Asociacion para Evitar la Ceguera en Mexico, I A P, Hospital Dr Luis Sanchez Bulnes, Mexico
    Arch Soc Esp Oftalmol 81:315-20. 2006
    ..To assess the main clinical, genetic, histopathological and ultrastructural features of Mexican patients with macular corneal dystrophy, and to compare the results with those previously reported...
  46. ncbi Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies
    Robert D Young
    Structural Biophysics Group, School of Optometry and Vision Sciences, Cardiff University, Redwood Building, King Edward VII Avenue, Cardiff, CF10 3NB Wales, UK
    Histochem Cell Biol 127:115-20. 2007
    ..MCD is caused by mutations in CHST6, a gene encoding the enzyme responsible for KS sulphation...
  47. ncbi In vivo laser confocal microscopic findings of corneal stromal dystrophies
    Akira Kobayashi
    Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, 13 1 Takara machi, Kanazawa shi, Ishikawa ken 920 8641, Japan
    Arch Ophthalmol 125:1168-73. 2007
    ..To investigate in vivo laser confocal microscopic findings of genetically mapped corneal stromal dystrophies and their relationship to histopathologic findings...
  48. ncbi An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation
    Vivek S Yellore
    Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
    Ophthalmic Genet 28:169-74. 2007
    To report an unusual phenotype of macular corneal dystrophy (MCDC1) associated with a novel CHST6 mutation transmitted via maternal isodisomy.
  49. ncbi Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamine
    A Shilatifard
    Department of Biochemistry and Molecular Biology, University of Oklahoma Health Science Center, Oklahoma City 73104
    J Virol 67:943-52. 1993
    ..Charge analysis of the [3H]galactose- and [3H]glucosamine-labeled glycopeptides from gp120 and gp160 indicates that approximately 14% of the complex-type N-linked oligosaccharides are sulfated...

Research Grants11

  1. Biosynthetic pathway of corneal keratan sulfate
    TOMOYA AKAMA; Fiscal Year: 2007
    ..for MCD, and the functional analysis of the gene product named human corneal GlcNAc 6-O sulfotransferase (hCGn6ST), we concluded that hCGn6ST is involved in the sulfation of keratan sulfate carbohydrate in the cornea...
  2. Macular Corneal Dystrophy-Molecular Pathobiology
    Gordon Klintworth; Fiscal Year: 2005
    The proposed research is part of an ongoing study of macular corneal dystrophy (MCD) and the CHST6 gene. We will maintain and expand a computerized registry and genealogical database of individuals with MCD for relevant studies...
  3. Cloning/Gene/Posterior Polymorphous corneal dystrophy
    ANTHONY ALDAVE; Fiscal Year: 2007
    ....