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Journal Abstract Search

370 related items for PubMed ID: 17919309

  • 1. Non-neuronopathic Gaucher disease due to saposin C deficiency.
    Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E.
    Clin Genet; 2007 Dec; 72(6):538-42. PubMed ID: 17919309
    [Abstract] [Full Text] [Related]

  • 2. Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.
    Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA.
    Hum Mol Genet; 2007 Apr 15; 16(8):957-71. PubMed ID: 17353235
    [Abstract] [Full Text] [Related]

  • 3. A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice.
    Yoneshige A, Suzuki K, Suzuki K, Matsuda J.
    J Neurosci Res; 2010 Aug 01; 88(10):2118-34. PubMed ID: 20175216
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
    Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ.
    Am J Med Genet; 1985 Jul 01; 21(3):529-49. PubMed ID: 3927728
    [Abstract] [Full Text] [Related]

  • 6. A rare form of Gaucher disease resulting from saposin C deficiency.
    Kang L, Zhan X, Ye J, Han L, Qiu W, Gu X, Zhang H.
    Blood Cells Mol Dis; 2018 Feb 01; 68():60-65. PubMed ID: 28457694
    [Abstract] [Full Text] [Related]

  • 7. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
    Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A, Scarpa M, Biasizzo J, Colucci F, Dardis A.
    Int J Mol Sci; 2024 Jun 16; 25(12):. PubMed ID: 38928321
    [Abstract] [Full Text] [Related]

  • 8. Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.
    Tylki-Szymańska A, Groener JE, Kamiński ML, Ługowska A, Jurkiewicz E, Czartoryska B.
    Mol Genet Metab; 2011 Dec 16; 104(4):627-30. PubMed ID: 21978771
    [Abstract] [Full Text] [Related]

  • 9. Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
    Motta M, Camerini S, Tatti M, Casella M, Torreri P, Crescenzi M, Tartaglia M, Salvioli R.
    Hum Mol Genet; 2014 Nov 01; 23(21):5814-26. PubMed ID: 24925315
    [Abstract] [Full Text] [Related]

  • 10. The role of saposin C in Gaucher disease.
    Tamargo RJ, Velayati A, Goldin E, Sidransky E.
    Mol Genet Metab; 2012 Jul 01; 106(3):257-63. PubMed ID: 22652185
    [Abstract] [Full Text] [Related]

  • 11. Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.
    Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ.
    Mol Genet Metab; 2002 Jan 01; 75(1):46-55. PubMed ID: 11825063
    [Abstract] [Full Text] [Related]

  • 12. Mutations causing Gaucher disease.
    Horowitz M, Zimran A.
    Hum Mutat; 1994 Jan 01; 3(1):1-11. PubMed ID: 8118460
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  • 14. Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.
    Liaqat K, Hussain S, Acharya A, Nasir A, Bharadwaj T, Ansar M, Basit S, Schrauwen I, Ahmad W, Leal SM.
    Genes (Basel); 2022 Apr 09; 13(4):. PubMed ID: 35456468
    [Abstract] [Full Text] [Related]

  • 15. Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
    Zimmer KP, le Coutre P, Aerts HM, Harzer K, Fukuda M, O'Brien JS, Naim HY.
    J Pathol; 1999 Aug 09; 188(4):407-14. PubMed ID: 10440752
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  • 18. An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
    Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D.
    Proteins; 2008 Feb 15; 70(3):882-91. PubMed ID: 17803231
    [Abstract] [Full Text] [Related]

  • 19. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Feb 15; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 20. A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.
    Mohamed FE, Ali A, Al-Tenaiji A, Al-Jasmi A, Al-Jasmi F.
    J Mol Neurosci; 2022 Jun 15; 72(6):1322-1333. PubMed ID: 35316504
    [Abstract] [Full Text] [Related]

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