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Journal Abstract Search

207 related items for PubMed ID: 9989267

  • 1. Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts.
    Jansen SM, Groener JE, Poorthuis BJ.
    Biochim Biophys Acta; 1999 Jan 04; 1436(3):363-9. PubMed ID: 9989267
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  • 8. Acidic phospholipases in cultured human fibroblasts: deficiency of phospholipase C in Niemann-Pick disease.
    Beaudet AL, Hampton MS, Patel K, Sparrow JT.
    Clin Chim Acta; 1980 Dec 22; 108(3):403-14. PubMed ID: 6781796
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  • 9. 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 22; 50(1):137-44. PubMed ID: 1309624
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  • 10. Cocaine induces a mixed lysosomal lipidosis in cultured fibroblasts, by inactivation of acid sphingomyelinase and inhibition of phospholipase A1.
    Nassogne MC, Lizarraga C, N'Kuli F, Van Bambeke F, Van Binst R, Wallemacq P, Tulkens PM, Mingeot-Leclercq MP, Levade T, Courtoy PJ.
    Toxicol Appl Pharmacol; 2004 Jan 15; 194(2):101-10. PubMed ID: 14736491
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  • 11. Mucolipidoses Overview: Past, Present, and Future.
    Khan SA, Tomatsu SC.
    Int J Mol Sci; 2020 Sep 17; 21(18):. PubMed ID: 32957425
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  • 12. 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 17; 76(6):2191-5. PubMed ID: 3001146
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  • 13. [I-cell disease and pseudo-Hurler polydystrophy].
    Owada M.
    Nihon Rinsho; 1995 Dec 17; 53(12):3028-34. PubMed ID: 8577054
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  • 14. Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines.
    Champion MJ, Shows TB.
    Am J Hum Genet; 1977 Mar 17; 29(2):149-63. PubMed ID: 848490
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  • 15. Lysosomal phosphatidylcholine: bis(monoacylglycero)phosphate acyltransferase: specificity for the sn-1 fatty acid of the donor and co-purification with phospholipase A1.
    Huterer SJ, Hostetler KY, Gardner MF, Wherrett JR.
    Biochim Biophys Acta; 1993 Apr 07; 1167(2):204-10. PubMed ID: 8466950
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  • 16. 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 07; 78(12):7773-7. PubMed ID: 6461005
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  • 17. Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
    Di Lorenzo G, Velho RV, Winter D, Thelen M, Ahmadi S, Schweizer M, De Pace R, Cornils K, Yorgan TA, Grüb S, Hermans-Borgmeyer I, Schinke T, Müller-Loennies S, Braulke T, Pohl S.
    Mol Cell Proteomics; 2018 Aug 07; 17(8):1612-1626. PubMed ID: 29773673
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  • 18. Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.
    Varki A, Reitman ML, Vannier A, Kornfeld S, Grubb JH, Sly WS.
    Am J Hum Genet; 1982 Sep 07; 34(5):717-29. PubMed ID: 6289658
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  • 19. 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 07; 24(6):535. PubMed ID: 15532026
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  • 20. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
    Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T.
    Am J Med Genet A; 2005 Sep 01; 137A(3):235-40. PubMed ID: 16094673
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