| 1 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1
|
| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
|
| Haeuptle MA, Hennet T.
|
| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
|
| 2 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
|
| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
|
| Leroy JG.
|
| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
|
| 3 | CDG1F, MPDU1
|
| Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.
|
| Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH.
|
| Glycobiology 15(11):1084-93. Epub 2005 Aug 3.
2005
|
| 4 | MPDU1, CDG1F
|
| A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
|
| Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T.
|
| J Clin Invest 108(11):1613-9. 2001
|
| 5 | MPDU1, CDG1F
|
| MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
|
| Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M.
|
| J Clin Invest 108(11):1687-95. Erratum in: J Clin Invest. 2003 Mar;111(6):925. 2001
|
| 6 | MPDU1
|
| Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals.
|
| Anand M, Rush JS, Ray S, Doucey MA, Weik J, Ware FE, Hofsteenge J, Waechter CJ, Lehrman MA.
|
| Mol Biol Cell 12(2):487-501.
2001
|
| 7 | MPDU1
|
| Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells.
|
| Ware FE, et al.
|
| J Biol Chem 271(24):13935-8. 1996
|