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Journal Abstract Search

208 related items for PubMed ID: 6461005

  • 1. Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
    Varki AP, Reitman ML, Kornfeld S.
    Proc Natl Acad Sci U S A; 1981 Dec; 78(12):7773-7. PubMed ID: 6461005
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  • 2. 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; 67(5):1574-9. PubMed ID: 6262380
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  • 3. Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies.
    Ben-Yoseph Y, Pack BA, Mitchell DA, Elwell DG, Potier M, Melançon SB, Nadler HL.
    Enzyme; 1986 May; 35(2):106-16. PubMed ID: 3017692
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  • 4. 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; 363(2):169-78. PubMed ID: 6460679
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  • 5. I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants.
    Mueller OT, Little LE, Miller AL, Lozzio CB, Shows TB.
    Clin Chim Acta; 1985 Aug 30; 150(3):175-83. PubMed ID: 2998644
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  • 7. Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
    Ben-Yoseph Y, Potier M, Mitchell DA, Pack BA, Melançon SB, Nadler HL.
    Biochem J; 1987 Dec 15; 248(3):697-701. PubMed ID: 2829837
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  • 8. Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes.
    Reitman ML, Kornfeld S.
    J Biol Chem; 1981 Dec 10; 256(23):11977-80. PubMed ID: 6457829
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  • 9. Steps in the phosphorylation of the high mannose oligosaccharides of lysosomal enzymes.
    Kornfeld S, Reitman ML, Varki A, Goldberg D, Gabel CA.
    Ciba Found Symp; 1982 Dec 10; (92):138-56. PubMed ID: 6295719
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  • 10. Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations.
    Ben-Yoseph Y, Mitchell DA, Yager RM, Wei JT, Chen TH, Shih LY.
    Am J Hum Genet; 1992 Jan 10; 50(1):137-44. PubMed ID: 1309624
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  • 11. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
    Kudo M, Brem MS, Canfield WM.
    Am J Hum Genet; 2006 Mar 10; 78(3):451-63. PubMed ID: 16465621
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  • 16. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
    Ho CC, Tsung LL, Liu KT, Poon WT.
    BMC Med Genet; 2018 Sep 12; 19(1):162. PubMed ID: 30208878
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  • 17. Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
    Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S.
    J Biol Chem; 2015 Jan 30; 290(5):3045-56. PubMed ID: 25505245
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  • 18. Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.
    Little LE, Mueller OT, Honey NK, Shows TB, Miller AL.
    J Biol Chem; 1986 Jan 15; 261(2):733-8. PubMed ID: 3001079
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  • 19. [I-cell disease and pseudo-Hurler polydystrophy].
    Owada M.
    Nihon Rinsho; 1995 Dec 15; 53(12):3028-34. PubMed ID: 8577054
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  • 20. Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy.
    DiCioccio RA, Miller AL.
    Glycobiology; 1991 Dec 15; 1(6):595-604. PubMed ID: 1822239
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