JCGGDB TOP Glyco-Disease Genes Database


糖鎖関連遺伝子(糖転移酵素・グリコシダーゼ・ドナー基質合成酵素など)の変異によって引き起こされる疾患の情報をデータベース化しました。このデータベースをGlyco-Disease Genes Database (GDGDB)と名付け、このGDGDBは、現在約80にも及ぶ病名や原因遺伝子について専門家による病態の情報を許可を得て収録し公開しております。遺伝子の情報は国内にある糖鎖関連遺伝子のデータベースやグリコシダーゼのデータベースなどやNCBIと相互リンクしていきます。



Project Members
Masako Maeda, RCMG, AIST.
Toshihide Shikanai, RCMG, AIST.
Hisashi Narimatsu, RCMG, AIST.

Liability: For documents with data and tools available from this server, JCGGDB & AIST does not warrant or assume any legal liability or responsibility for the accuracy, completeness, or usefulness of any information, apparatus, product, or process disclosed.

This database is supported by Ministry of Education, Culture, Sports, Science and Technology (MEXT) as part of Life Science Integrated Database project.

Genetic Glyco-Diseases Ontologies (GGDonto)

  1. Eklund EA, Bode L, Freeze HH. Diseases Associated with Carbohydrates/Glycoconjugates. In: Kamerling JP, Boons GJ, Lee YC, Suzuki A, Taniguchi N, Voragen AGJ, editors. Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier; 2007;4:339-72.
  2. Freeze HH. Genetic Disorders of Glycan Degradation. In: Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, et al., editors. Essentials of glycobiology. 2nd ed. New York: Cold Spring Harbor Laboratory Press; 2009. Chapter 41.
  3. Freeze HH, Schachter H. Genetic Disorders of Glycosylation. In: Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, et al., editors. Essentials of glycobiology. 2nd ed. New York: Cold Spring Harbor Laboratory Press; 2009. Chapter 42.
  4. Sparks SE, Krasnewich DM. [updated 2014 Jan 30]. Congenital Disorders of N-linked Glycosylation Pathway Overview. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. [cited 2014 Mar 4]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1332/.
  5. Freeze HH. Genetic defects in the human glycome. Nat Rev Genet. 2006;7(7):537-51.
  6. Jaeken J, Hennet T, Freeze HH, Matthijs G. On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis. 2008;31(6):669-72.
  7. Jaeken J, Hennet T, Matthijs G, Freeze HH. CDG nomenclature: Time for a change! Biochim Biophys Acta. 2009;1792(9):825-6.
  8. Wopereis S, Lefeber DJ, Morava E, Wevers RA. Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem. 2006;52(4):574-600.
  9. Renaud DL. Lysosomal disorders associated with leukoencephalopathy. Semin Neurol. 2012;32(1):51-4.
  10. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-97.
  11. P.A. Levy. Inborn Errors of Metabolism: Part 2: Specific Disorders. Pediatrics in Review [Internet-Only Article]. 2009;30(4):e22-e28. doi: 10.1542/pir.30-4-e22.
  12. Unified Medical Language System (UMLS) Knowledge Sources [Internet]. National Library of Medicine (US); [updated 2014 Jul 18; cited 2014 Nov 12]. Available from: http://www.nlm.nih.gov/research/umls/.
  13. Medical Subject Headings [Internet]. National Library of Medicine (US); [updated 2014 Sep 8; cited 2014 Nov 12]. Available from: http://www.nlm.nih.gov/mesh/.
  14. Online Mendelian Inheritance in Man (OMIM) [Internet]. Johns Hopkins University; [updated 2014 Nov 11; cited 2014 Nov 12]. Available from: http://omim.org/.
  15. Genetics Home Reference [Internet]. National Library of Medicine (US); [updated 2014 Nov 11; cited 2014 Nov 12]. Available from: http://ghr.nlm.nih.gov/condition/.
  16. Genetic and Rare Diseases Information Center (GARD) [Internet]. National Institutes of Health (US); [cited 2014 Nov 12]. Available from: http://rarediseases.info.nih.gov/gard/categories/.
  17. Genetic Testing Registry (GTR) [Internet]. National Library of Medicine (US); [cited 2014 Nov 12]. Available from: http://www.ncbi.nlm.nih.gov/gtr/.
  18. Freeze HH, Eklund E. Introduction to Human Glycosylation Disorders. In: Cummings RD, Pierce JM, editors. Handbook of Glycomics. Academic Press; 2009. p.431-64.
  19. Hennet T. From glycosylation disorders back to glycosylation: What have we learned? [review]. Biochim Biophys Acta. 2009;1792(9):921-4.
  20. Hennet T. Diseases of glycosylation beyond classical congenital disorders of glycosylation [review]. Biochim Biophys Acta. 2012;1820(9):1306-17.
  21. Haeuptle MA, Hennet T. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat. 2009;30(12):1628-41.
  22. Ohtsubo K, Marth JD. Glycosylation in cellular mechanisms of health and disease [review]. Cell. 2006;126(5):855-67.
  23. Marklova E, Albahri Z. Screening and diagnosis of congenital disorders of glycosylation. Clin Chim Acta. 2007; 385(1-2):6-20.
  24. Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet. 2012;21(19):4151-61.
  25. Pastores GM. Therapeutic approaches for lysosomal storage diseases [review]. Ther Adv Endocrinol Metab. 2010;1(4):177-88.
  26. Winchester B. Lysosomal metabolism of glycoproteins [review]. Glycobiology. 2005;15(6):1R-15R.
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