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Journal Abstract Search

346 related items for PubMed ID: 9710431

  • 1. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
    Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M.
    J Clin Invest; 1998 Aug 15; 102(4):647-52. PubMed ID: 9710431
    [Abstract] [Full Text] [Related]

  • 2. Carbohydrate-deficient glycoprotein syndromes.
    Kościelak J.
    Acta Biochim Pol; 1999 Aug 15; 46(3):727-38. PubMed ID: 10698281
    [Abstract] [Full Text] [Related]

  • 3. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
    Van Schaftingen E, Jaeken J.
    FEBS Lett; 1995 Dec 27; 377(3):318-20. PubMed ID: 8549746
    [Abstract] [Full Text] [Related]

  • 4. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
    de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT.
    Biochem Biophys Res Commun; 1998 Apr 07; 245(1):38-42. PubMed ID: 9535779
    [Abstract] [Full Text] [Related]

  • 5. 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; 2005 Nov 07; 15(11):1084-93. PubMed ID: 16079417
    [Abstract] [Full Text] [Related]

  • 6. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.
    Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA.
    Ann Neurol; 2000 Jun 07; 47(6):776-81. PubMed ID: 10852543
    [Abstract] [Full Text] [Related]

  • 7. 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.
    EMBO J; 1999 Dec 01; 18(23):6816-22. PubMed ID: 10581255
    [Abstract] [Full Text] [Related]

  • 8. Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.
    Freeze HH, Aebi M.
    Biochim Biophys Acta; 1999 Oct 08; 1455(2-3):167-78. PubMed ID: 10571010
    [Abstract] [Full Text] [Related]

  • 9. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.
    Krasnewich DM, Holt GD, Brantly M, Skovby F, Redwine J, Gahl WA.
    Glycobiology; 1995 Jul 08; 5(5):503-10. PubMed ID: 8563136
    [Abstract] [Full Text] [Related]

  • 10. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
    Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH.
    Hum Mutat; 2003 Aug 08; 22(2):144-50. PubMed ID: 12872255
    [Abstract] [Full Text] [Related]

  • 11. Transfer of two oligosaccharides to protein in a Chinese hamster ovary cell B211 which utilizes polyprenol for its N-linked glycosylation intermediates.
    Kaiden A, Rosenwald AG, Cacan R, Verbert A, Krag SS.
    Arch Biochem Biophys; 1998 Oct 15; 358(2):303-12. PubMed ID: 9784244
    [Abstract] [Full Text] [Related]

  • 12. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
    Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T.
    J Clin Invest; 2000 Jan 15; 105(2):233-9. PubMed ID: 10642602
    [Abstract] [Full Text] [Related]

  • 13. Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol.
    Yasugi E, Nakasuji M, Dohi T, Oshima M.
    Biochem Biophys Res Commun; 1994 Apr 29; 200(2):816-20. PubMed ID: 8179616
    [Abstract] [Full Text] [Related]

  • 14. Carbohydrate-deficient glycoprotein syndrome.
    Krasnewich D, Gahl WA.
    Adv Pediatr; 1997 Apr 29; 44():109-40. PubMed ID: 9265969
    [Abstract] [Full Text] [Related]

  • 15. 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.
    Proc Natl Acad Sci U S A; 1998 Oct 27; 95(22):13200-5. PubMed ID: 9789065
    [Abstract] [Full Text] [Related]

  • 16. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
    Grubenmann CE, Frank CG, Hülsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T.
    Hum Mol Genet; 2004 Mar 01; 13(5):535-42. PubMed ID: 14709599
    [Abstract] [Full Text] [Related]

  • 17. The Saccharomyces cerevisiae CWH8 gene is required for full levels of dolichol-linked oligosaccharides in the endoplasmic reticulum and for efficient N-glycosylation.
    van Berkel MA, Rieger M, te Heesen S, Ram AF, van den Ende H, Aebi M, Klis FM.
    Glycobiology; 1999 Mar 01; 9(3):243-53. PubMed ID: 10024662
    [Abstract] [Full Text] [Related]

  • 18. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
    Haeuptle MA, Hennet T.
    Hum Mutat; 2009 Dec 01; 30(12):1628-41. PubMed ID: 19862844
    [Abstract] [Full Text] [Related]

  • 19. Regulation of N-linked glycoprotein assembly in uteri by steroid hormones.
    Dutt A, Tang JP, Welply JK, Carson DD.
    Endocrinology; 1986 Feb 01; 118(2):661-73. PubMed ID: 2417825
    [Abstract] [Full Text] [Related]

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