Glycosylation, congenital disorders

Congenital Disorders of Glycosylation Congenital disorders of glycosyla-tion (CDG) (previously known as carbohydrate-deficient glycoprotein syndromes) are inherited... 

Abnormalities of the glycosylation of transferrin occur in the congenital disorders of glycosylation (Chapter 47) and in chronic alcohol abuse. Their detection by, for example, isoelectric focusing is used to help diagnose these conditions. 

Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel DR, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH (2007) COG8 deficiency causes new congenital disorder of glycosylation type Ilh. Hum Mol Genet 16 731-741... 

Liibke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C (2001) Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 28 73-76... 

Mills K, Mills PB, Clayton PT, Mian N, Johnson AW, Winchester BG (2003) The underglyco-sylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random. Glycobiology 13 73-85... 

Wada Y (2006) Mass spectrometry for congenital disorder of glycosylation, CDG. J Chro-matogr Analyt Technol Biomed Life Sci 838 3-8... 

Freeze HH, Aebi M. Altered glycan structures the molecular basis of congenital disorders of glycosylation. Curr. Opin. Struct. Biol. 2005 15 490-498. 

Schachter H. Congenital disorders involving defective N-glycosylation of proteins. Cell. Mol. Life Sci. 2001 58 1085-1104. Dube DH, Bertozzi CR. Glycans in cancer and inflammation -potential for therapeutics and diagnostics. Nat. Rev. Drug Discov. 2005 4 477-188. 

AFM atomic force microscopy BSA bovine serum albumin CDG congenital disorder of glycosylation CMP c)hidine monophosphate,... 

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