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Journal Abstract Search

108 related items for PubMed ID: 20980829

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

  • 2. 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]

  • 3. Cathepsin-mediated regulation of autophagy in saposin C deficiency.
    Tatti M, Motta M, Di Bartolomeo S, Cianfanelli V, Salvioli R.
    Autophagy; 2013 Feb 01; 9(2):241-3. PubMed ID: 23108186
    [Abstract] [Full Text] [Related]

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  • 5. 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]

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  • 7. 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]

  • 8. The role of saposin C in Gaucher disease.
    Tamargo RJ, Velayati A, Goldin E, Sidransky E.
    Mol Genet Metab; 2012 Jul 15; 106(3):257-63. PubMed ID: 22652185
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 72(6):538-42. PubMed ID: 17919309
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype.
    Liou B, Zhang W, Fannin V, Quinn B, Ran H, Xu K, Setchell KDR, Witte D, Grabowski GA, Sun Y.
    Sci Rep; 2019 Apr 03; 9(1):5571. PubMed ID: 30944381
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 68():60-65. PubMed ID: 28457694
    [Abstract] [Full Text] [Related]

  • 14. Assessment of cellular cobalamin metabolism in Gaucher disease.
    Basgalupp SP, Siebert M, Ferreira C, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD.
    BMC Med Genet; 2020 Jan 13; 21(1):12. PubMed ID: 31931749
    [Abstract] [Full Text] [Related]

  • 15. 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 13; 117(2-3):275-7. PubMed ID: 15856305
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
    Sun Y, Zhang W, Xu YH, Quinn B, Dasgupta N, Liou B, Setchell KD, Grabowski GA.
    PLoS One; 2013 Apr 09; 8(3):e57560. PubMed ID: 23520473
    [Abstract] [Full Text] [Related]

  • 19. Mutations causing Gaucher disease.
    Horowitz M, Zimran A.
    Hum Mutat; 1994 Apr 09; 3(1):1-11. PubMed ID: 8118460
    [Abstract] [Full Text] [Related]

  • 20. [Genetics of Gaucher's disease. Genotype-phenotype correlation].
    Alfonso Palacín P, Pocoví M.
    Med Clin (Barc); 2011 Sep 09; 137 Suppl 1():17-22. PubMed ID: 22230121
    [Abstract] [Full Text] [Related]

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