von Figura K - Search Results

1

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.

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

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

4

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.

5

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.

6

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

7

A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi.

Lübke T, Marquardt T, von Figura K, Körner C. Lübke T, et al. Among authors: von figura k. J Biol Chem. 1999 Sep 10;274(37):25986-9. doi: 10.1074/jbc.274.37.25986. J Biol Chem. 1999. PMID: 10473542 Free article.

While in LAD II hypofucosylation of glycoconjugates is secondary to an impaired synthesis of GDP-fucose due to a deficiency of the GDP-D-mannose-4, 6-dehydratase, synthesis of GDP-fucose was normal in our patient (Korner, C., Linnebank, M., Koch, H., Harms, E., von Figu …

While in LAD II hypofucosylation of glycoconjugates is secondary to an impaired synthesis of GDP-fucose due to a deficiency of the GDP-D-man …

8

Congenital disorder of glycosylation-Ic: case report and genetic defect.

Hanefeld F, Körner C, Holzbach-Eberle U, von Figura K. Hanefeld F, et al. Among authors: von figura k. Neuropediatrics. 2000 Apr;31(2):60-2. doi: 10.1055/s-2000-7486. Neuropediatrics. 2000. PMID: 10832578

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

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T. Niehues R, et al. Among authors: von figura k. J Clin Invest. 1998 Apr 1;101(7):1414-20. doi: 10.1172/JCI2350. J Clin Invest. 1998. PMID: 9525984 Free PMC article.

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