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Journal Abstract Search

141 related items for PubMed ID: 8460394

  • 1. Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency.
    Rafi MA, de Gala G, Zhang XL, Wenger DA.
    Somat Cell Mol Genet; 1993 Jan; 19(1):1-7. PubMed ID: 8460394
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  • 2. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
    Schnabel D, Schröder M, Sandhoff K.
    FEBS Lett; 1991 Jun 17; 284(1):57-9. PubMed ID: 2060627
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  • 3. 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 17; 50(6):1252-8. PubMed ID: 1350885
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  • 6. 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 17; 58(1):65-74. PubMed ID: 8554069
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  • 8. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease.
    Bradová V, Smíd F, Ulrich-Bott B, Roggendorf W, Paton BC, Harzer K.
    Hum Genet; 1993 Sep 17; 92(2):143-52. PubMed ID: 8370580
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  • 9. 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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  • 10. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
    Hulková H, Cervenková M, Ledvinová J, Tochácková M, Hrebícek M, Poupetová H, Befekadu A, Berná L, Paton BC, Harzer K, Böör A, Smíd F, Elleder M.
    Hum Mol Genet; 2001 Apr 15; 10(9):927-40. PubMed ID: 11309366
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  • 11. Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
    Vaccaro AM, Motta M, Tatti M, Scarpa S, Masuelli L, Bhat M, Vanier MT, Tylki-Szymanska A, Salvioli R.
    Hum Mol Genet; 2010 Aug 01; 19(15):2987-97. PubMed ID: 20484222
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  • 12. 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 01; 87(4):1426-30. PubMed ID: 1689485
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  • 14. [Disorders of sphingolipid activator proteins].
    Suzuki Y.
    Nihon Rinsho; 1995 Dec 01; 53(12):3025-7. PubMed ID: 8577053
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  • 15. 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 01; 87(7):2541-4. PubMed ID: 2320574
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  • 16. 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 01; 23(1):63-76. PubMed ID: 10682309
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  • 17. Physiological relevance of sphingolipid activator proteins in cultured human fibroblasts.
    Sadeghlar F, Remmel N, Breiden B, Klingenstein R, Schwarzmann G, Sandhoff K.
    Biochimie; 2003 Feb 01; 85(3-4):439-48. PubMed ID: 12770782
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  • 18. Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses.
    Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M.
    Eur J Pediatr; 1989 Oct 01; 149(1):31-9. PubMed ID: 2514102
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  • 19. Mutations causing Gaucher disease.
    Horowitz M, Zimran A.
    Hum Mutat; 1994 Oct 01; 3(1):1-11. PubMed ID: 8118460
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  • 20. Human sphingolipid activator protein-1 and sphingolipid activator protein-2 are encoded by the same gene.
    Reiner O, Dagan O, Horowitz M.
    J Mol Neurosci; 1989 Oct 01; 1(4):225-33. PubMed ID: 2484333
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