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Journal Abstract Search

86 related items for PubMed ID: 2847740

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Properties of N-acetylglucosamine 1-phosphotransferase from human lymphoblasts.
    Little L, Alcouloumre M, Drotar AM, Herman S, Robertson R, Yeh RY, Miller AL.
    Biochem J; 1987 Nov 15; 248(1):151-9. PubMed ID: 2829817
    [Abstract] [Full Text] [Related]

  • 3. Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants.
    Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL.
    Am J Med Genet; 1982 Jul 15; 12(3):343-53. PubMed ID: 6287841
    [Abstract] [Full Text] [Related]

  • 4. [The deficiency of UDP-GlcNAc: lysosomal enzyme alpha-N-acetylglucosaminylphosphotransferase and the related diseases].
    Gasa S.
    Tanpakushitsu Kakusan Koso; 1988 Apr 15; 33(5):706-8. PubMed ID: 2855952
    [No Abstract] [Full Text] [Related]

  • 5. Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis.
    Sun Q, Li J, Wang C, Huang X, Huang H, Du D, Liang Y, Han H.
    Gene; 2005 Feb 28; 347(1):55-64. PubMed ID: 15716021
    [Abstract] [Full Text] [Related]

  • 6. Normalization of intracellular lysosomal hydrolases in I-cell disease fibroblasts with sucrose loading.
    Kato T, Okada S, Ohshima T, Inui K, Yutaka T, Yabuuchi H.
    J Biol Chem; 1982 Jul 10; 257(13):7814-9. PubMed ID: 7085649
    [Abstract] [Full Text] [Related]

  • 7. Biochemical heterogeneity in I-cell disease. Sucrose-loading test classifies two distinct subtypes.
    Okada S, Inui K, Furukawa M, Midorikawa M, Nishimoto J, Yabuuchi H, Kato T, Watanabe M, Gasa S, Makita A.
    Enzyme; 1987 Jul 10; 38(1-4):267-72. PubMed ID: 2831041
    [Abstract] [Full Text] [Related]

  • 8. The effects of sucrose loading on lysosomal hydrolases.
    Kato T, Okada S, Yutaka T, Yabuuchi H.
    Mol Cell Biochem; 1984 Jul 10; 60(1):83-98. PubMed ID: 6708943
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
    Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T.
    Hum Mutat; 2004 Dec 10; 24(6):535. PubMed ID: 15532026
    [Abstract] [Full Text] [Related]

  • 11. Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.
    Mueller OT, Honey NK, Little LE, Miller AL, Shows TB.
    J Clin Invest; 1983 Sep 10; 72(3):1016-23. PubMed ID: 6309902
    [Abstract] [Full Text] [Related]

  • 12. Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III.
    Waheed A, Hasilik A, Cantz M, von Figura K.
    Hoppe Seylers Z Physiol Chem; 1982 Feb 10; 363(2):169-78. PubMed ID: 6460679
    [Abstract] [Full Text] [Related]

  • 13. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
    Reitman ML, Varki A, Kornfeld S.
    J Clin Invest; 1981 May 10; 67(5):1574-9. PubMed ID: 6262380
    [Abstract] [Full Text] [Related]

  • 14. Heterogeneity in mucolipidosis II (I-cell disease).
    Okada S, Kato T, Oshima T, Yutaka T, Yabuuchi H.
    Clin Genet; 1983 Feb 10; 23(2):155-9. PubMed ID: 6839528
    [Abstract] [Full Text] [Related]

  • 15. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
    Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.
    Clin Genet; 2009 Jul 10; 76(1):76-84. PubMed ID: 19659762
    [Abstract] [Full Text] [Related]

  • 16. Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts.
    Glickman JN, Kornfeld S.
    J Cell Biol; 1993 Oct 10; 123(1):99-108. PubMed ID: 8408210
    [Abstract] [Full Text] [Related]

  • 17. Targeting of lysosomal enzymes: N-acetylglucosamine-1-phosphotransferase during muscle development.
    Den H, Shanske S, DiMauro S.
    Muscle Nerve; 1986 Oct 10; 9(3):261-4. PubMed ID: 3010102
    [Abstract] [Full Text] [Related]

  • 18. [I-cell disease and pseudo-Hurler polydystrophy].
    Owada M.
    Nihon Rinsho; 1995 Dec 10; 53(12):3028-34. PubMed ID: 8577054
    [Abstract] [Full Text] [Related]

  • 19. Deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients.
    Waheed A, Pohlmann R, Hasilik A, von Figura K, van Elsen A, Leroy JG.
    Biochem Biophys Res Commun; 1982 Apr 14; 105(3):1052-8. PubMed ID: 6212058
    [No Abstract] [Full Text] [Related]

  • 20. Lysosomal enzyme phosphorylation in human fibroblasts. Kinetic parameters offer a biochemical rationale for two distinct defects in the uridine diphospho-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase.
    Lang L, Takahashi T, Tang J, Kornfeld S.
    J Clin Invest; 1985 Dec 14; 76(6):2191-5. PubMed ID: 3001146
    [Abstract] [Full Text] [Related]

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