Abstract
A congenital disorder of glycosylation syndrome (CDGS) is an autosomal recessive disorder on protein N-glycosylation. The mutated genes causing CDGS are found in N-linked oligosaccharide synthesis gene in the endoplasmic reticulum (ER) (Chantret et al. 2003; Frank et al. 2004). The N-glycosylation pathway in the ER is almost the same in any eukaryotic cells from yeast to human. Since most of the N-glycosylation genes and corresponding mutant strains have been isolated from yeast, we cloned and characterized human N-glycosylation genes in the ER by the phenotypic complementation of yeast N-glycosylation mutant cells.
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References
Chantret I, Dancourt J, Dupre T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (2003) A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. J Biol Chem 278:9962–9971
Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet 75:146–150
Umeda K, Yoko-o T, Nakayama K, Suzuki T, Jigami Y (2000) Schizosaccharomyces pombe gmd3(+)/ alg11(+) is a functional homologue of Saccharomyces cerevisiae ALG11 which is involved in Nlinked oligosaccharide synthesis. Yeast 16:1261–1271
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Nakayama, Ki., Jigami, Y. (2008). Cloning of Genes for N-linked Oligosaccharide Synthesis in Endoplasmic Reticulum. In: Taniguchi, N., Suzuki, A., Ito, Y., Narimatsu, H., Kawasaki, T., Hase, S. (eds) Experimental Glycoscience. Springer, Tokyo. https://doi.org/10.1007/978-4-431-77922-3_21
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DOI: https://doi.org/10.1007/978-4-431-77922-3_21
Publisher Name: Springer, Tokyo
Print ISBN: 978-4-431-77921-6
Online ISBN: 978-4-431-77922-3
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