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370 related items for PubMed ID: 17919309

  • 21. Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.
    Tatti M, Motta M, Di Bartolomeo S, Scarpa S, Cianfanelli V, Cecconi F, Salvioli R.
    Hum Mol Genet; 2012 Dec 01; 21(23):5159-73. PubMed ID: 22949512
    [Abstract] [Full Text] [Related]

  • 22. Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse.
    Matsuda J, Kido M, Tadano-Aritomi K, Ishizuka I, Tominaga K, Toida K, Takeda E, Suzuki K, Kuroda Y.
    Hum Mol Genet; 2004 Nov 01; 13(21):2709-23. PubMed ID: 15345707
    [Abstract] [Full Text] [Related]

  • 23. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse.
    Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA.
    Hum Mol Genet; 2010 Feb 15; 19(4):634-47. PubMed ID: 20015957
    [Abstract] [Full Text] [Related]

  • 24. The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.
    Salvioli R, Tatti M, Scarpa S, Moavero SM, Ciaffoni F, Felicetti F, Kaneski CR, Brady RO, Vaccaro AM.
    Biochem J; 2005 Aug 15; 390(Pt 1):95-103. PubMed ID: 15826241
    [Abstract] [Full Text] [Related]

  • 25. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
    Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A.
    Hum Genet; 2005 Jul 15; 117(2-3):275-7. PubMed ID: 15856305
    [Abstract] [Full Text] [Related]

  • 26. 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 15; 19(1):1-7. PubMed ID: 8460394
    [Abstract] [Full Text] [Related]

  • 27. Autophagy in Gaucher disease due to saposin C deficiency.
    Tatti M, Motta M, Salvioli R.
    Autophagy; 2011 Jan 15; 7(1):94-5. PubMed ID: 20980829
    [Abstract] [Full Text] [Related]

  • 28. Saposin C: neuronal effect and CNS delivery by liposomes.
    Chu Z, Sun Y, Kuan CY, Grabowski GA, Qi X.
    Ann N Y Acad Sci; 2005 Aug 15; 1053():237-46. PubMed ID: 16179529
    [Abstract] [Full Text] [Related]

  • 29. [Disorders of sphingolipid activator proteins].
    Suzuki Y.
    Nihon Rinsho; 1995 Dec 15; 53(12):3025-7. PubMed ID: 8577053
    [Abstract] [Full Text] [Related]

  • 30. Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo.
    Klein A, Henseler M, Klein C, Suzuki K, Harzer K, Sandhoff K.
    Biochem Biophys Res Commun; 1994 May 16; 200(3):1440-8. PubMed ID: 8185598
    [Abstract] [Full Text] [Related]

  • 31. [Gaucher disease: clinical, genetic and therapeutic aspects].
    Germain DP.
    Pathol Biol (Paris); 2004 Jul 16; 52(6):343-50. PubMed ID: 15261378
    [Abstract] [Full Text] [Related]

  • 32. Global gene expression in a type 2 Gaucher disease brain.
    Myerowitz R, Mizukami H, Richardson KL, Finn LS, Tifft CJ, Proia RL.
    Mol Genet Metab; 2004 Dec 16; 83(4):288-96. PubMed ID: 15589115
    [Abstract] [Full Text] [Related]

  • 33. Accumulation of sphingolipids in SAP-precursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor.
    Burkhardt JK, Hüttler S, Klein A, Möbius W, Habermann A, Griffiths G, Sandhoff K.
    Eur J Cell Biol; 1997 May 16; 73(1):10-8. PubMed ID: 9174667
    [Abstract] [Full Text] [Related]

  • 34. Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
    Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG.
    Hum Mutat; 2005 Jan 16; 25(1):100. PubMed ID: 15605411
    [Abstract] [Full Text] [Related]

  • 35. 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 16; 92(2):143-52. PubMed ID: 8370580
    [Abstract] [Full Text] [Related]

  • 36. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
    Sinclair G, Choy FY, Humphries L.
    Blood Cells Mol Dis; 1998 Dec 16; 24(4):420-7. PubMed ID: 9851895
    [Abstract] [Full Text] [Related]

  • 37. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 Dec 16; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 38. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.
    Alfonso P, Pampín S, Estrada J, Rodríguez-Rey JC, Giraldo P, Sancho J, Pocoví M.
    Blood Cells Mol Dis; 2005 Dec 16; 35(2):268-76. PubMed ID: 16039881
    [Abstract] [Full Text] [Related]

  • 39. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.
    Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA.
    Hum Mol Genet; 2010 Mar 15; 19(6):1088-97. PubMed ID: 20047948
    [Abstract] [Full Text] [Related]

  • 40. BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.
    Tatti M, Motta M, Scarpa S, Di Bartolomeo S, Cianfanelli V, Tartaglia M, Salvioli R.
    Hum Mol Genet; 2015 Aug 01; 24(15):4198-211. PubMed ID: 25926625
    [Abstract] [Full Text] [Related]

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