von Figura K - Search Results

1

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

Schwarz M, Thiel C, Lübbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Körner C. Schwarz M, et al. Among authors: von figura k. Am J Hum Genet. 2004 Mar;74(3):472-81. doi: 10.1086/382492. Epub 2004 Feb 16. Am J Hum Genet. 2004. PMID: 14973778 Free PMC article.

2

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

Thiel C, Schwarz M, Hasilik M, Grieben U, Hanefeld F, Lehle L, von Figura K, Körner C. Thiel C, et al. Among authors: von figura k. Biochem J. 2002 Oct 1;367(Pt 1):195-201. doi: 10.1042/BJ20020794. Biochem J. 2002. PMID: 12093361 Free PMC article.

3

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.

Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C. Thiel C, et al. Among authors: von figura k. J Biol Chem. 2003 Jun 20;278(25):22498-505. doi: 10.1074/jbc.M302850200. Epub 2003 Apr 8. J Biol Chem. 2003. PMID: 12684507 Free article.

4

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

Hansske B, Thiel C, Lübke T, Hasilik M, Höning S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Körner C. Hansske B, et al. Among authors: von figura k. J Clin Invest. 2002 Mar;109(6):725-33. doi: 10.1172/JCI14010. J Clin Invest. 2002. PMID: 11901181 Free PMC article.

5

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.

Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K. Körner C, et al. Among authors: von figura k. EMBO J. 1999 Dec 1;18(23):6816-22. doi: 10.1093/emboj/18.23.6816. EMBO J. 1999. PMID: 10581255 Free PMC article.

6

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.

Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K. Körner C, et al. Among authors: von figura k. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13200-5. doi: 10.1073/pnas.95.22.13200. Proc Natl Acad Sci U S A. 1998. PMID: 9789065 Free PMC article.

7

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.

Körner C, Lehle L, von Figura K. Körner C, et al. Among authors: von figura k. Glycoconj J. 1998 May;15(5):499-505. doi: 10.1023/a:1006939104442. Glycoconj J. 1998. PMID: 9881752

8

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.

Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C. Lübke T, et al. Among authors: von figura k. Nat Genet. 2001 May;28(1):73-6. doi: 10.1038/ng0501-73. Nat Genet. 2001. PMID: 11326280

9

Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.

Körner C, Lehle L, von Figura K. Körner C, et al. Among authors: von figura k. Glycobiology. 1998 Feb;8(2):165-71. doi: 10.1093/glycob/8.2.165. Glycobiology. 1998. PMID: 9451026

10

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.

Thiel C, Lübke T, Matthijs G, von Figura K, Körner C. Thiel C, et al. Among authors: von figura k. Mol Cell Biol. 2006 Aug;26(15):5615-20. doi: 10.1128/MCB.02391-05. Mol Cell Biol. 2006. PMID: 16847317 Free PMC article.

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