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Journal Abstract Search

276 related items for PubMed ID: 2320574

  • 1. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
    Kretz KA, Carson GS, Morimoto S, Kishimoto Y, Fluharty AL, O'Brien JS.
    Proc Natl Acad Sci U S A; 1990 Apr; 87(7):2541-4. PubMed ID: 2320574
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  • 2. The effect of carbohydrate removal on stability and activity of saposin B.
    Hiraiwa M, Soeda S, Martin BM, Fluharty AL, Hirabayashi Y, O'Brien JS, Kishimoto Y.
    Arch Biochem Biophys; 1993 Jun; 303(2):326-31. PubMed ID: 8099782
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  • 4. Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
    Henseler M, Klein A, Reber M, Vanier MT, Landrieu P, Sandhoff K.
    Am J Hum Genet; 1996 Jan; 58(1):65-74. PubMed ID: 8554069
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  • 5. A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
    Wrobe D, Henseler M, Huettler S, Pascual Pascual SI, Chabas A, Sandhoff K.
    J Inherit Metab Dis; 2000 Feb; 23(1):63-76. PubMed ID: 10682309
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  • 6. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
    Matsuda J, Vanier MT, Saito Y, Tohyama J, Suzuki K, Suzuki K.
    Hum Mol Genet; 2001 May 15; 10(11):1191-9. PubMed ID: 11371512
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  • 7. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
    Rafi MA, Zhang XL, DeGala G, Wenger DA.
    Biochem Biophys Res Commun; 1990 Jan 30; 166(2):1017-23. PubMed ID: 2302219
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  • 8. Modulation of human saposin B sphingolipid-binding specificity by alternative splicing. A study with saposin B-derived synthetic peptides.
    Lamontagne S, Potier M.
    J Biol Chem; 1994 Aug 12; 269(32):20528-32. PubMed ID: 8051151
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  • 9. Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins).
    Hiraiwa M, O'Brien JS, Kishimoto Y, Galdzicka M, Fluharty AL, Ginns EI, Martin BM.
    Arch Biochem Biophys; 1993 Jul 12; 304(1):110-6. PubMed ID: 8323276
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  • 10. Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency.
    Rafi MA, Amini S, Zhang XL, Wenger DA.
    Am J Hum Genet; 1992 Jun 12; 50(6):1252-8. PubMed ID: 1350885
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  • 11. Structural analysis of the mouse prosaposin (SGP-1) gene reveals the presence of an exon that is alternatively spliced in transcribed mRNAs.
    Zhao Q, Hay N, Morales CR.
    Mol Reprod Dev; 1997 Sep 12; 48(1):1-8. PubMed ID: 9266755
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  • 13. Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase.
    Qi X, Kondoh K, Yin H, Wang M, Ponce E, Sun Y, Grabowski GA.
    Mol Genet Metab; 2002 Jul 12; 76(3):189-200. PubMed ID: 12126932
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  • 14. Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
    Zhang XL, Rafi MA, DeGala G, Wenger DA.
    Proc Natl Acad Sci U S A; 1990 Feb 12; 87(4):1426-30. PubMed ID: 1689485
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  • 15. The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy.
    Zhang XL, Rafi MA, DeGala G, Wenger DA.
    Hum Genet; 1991 Jun 12; 87(2):211-5. PubMed ID: 2066109
    [Abstract] [Full Text] [Related]

  • 16. Lysosomal proteolysis of prosaposin, the precursor of saposins (sphingolipid activator proteins): its mechanism and inhibition by ganglioside.
    Hiraiwa M, Martin BM, Kishimoto Y, Conner GE, Tsuji S, O'Brien JS.
    Arch Biochem Biophys; 1997 May 01; 341(1):17-24. PubMed ID: 9143348
    [Abstract] [Full Text] [Related]

  • 17. Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts.
    Fujibayashi S, Wenger DA.
    Biochim Biophys Acta; 1986 Feb 28; 875(3):554-62. PubMed ID: 3081038
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  • 18. Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases.
    Morimoto S, Yamamoto Y, O'Brien JS, Kishimoto Y.
    Proc Natl Acad Sci U S A; 1990 May 28; 87(9):3493-7. PubMed ID: 2110365
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  • 19. Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
    Kuchar L, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K.
    Am J Med Genet A; 2009 Feb 15; 149A(4):613-21. PubMed ID: 19267410
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