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240 related items for PubMed ID: 30944381

  • 1. 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
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  • 2. 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
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  • 4. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
    Sun Y, Quinn B, Witte DP, Grabowski GA.
    J Lipid Res; 2005 Oct 15; 46(10):2102-13. PubMed ID: 16061944
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  • 5. 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
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  • 6. Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
    Xu YH, Quinn B, Witte D, Grabowski GA.
    Am J Pathol; 2003 Nov 15; 163(5):2093-101. PubMed ID: 14578207
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  • 8. 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
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  • 9. Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
    Xu YH, Sun Y, Ran H, Quinn B, Witte D, Grabowski GA.
    Mol Genet Metab; 2011 Apr 16; 102(4):436-47. PubMed ID: 21257328
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  • 10. 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
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  • 12. 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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  • 13. 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
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  • 16. 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
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  • 17. Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease.
    Lin Y, Zhao X, Liou B, Fannin V, Zhang W, Setchell KDR, Wang X, Pan D, Grabowski GA, Liu CJ, Sun Y.
    Hum Mol Genet; 2024 Oct 07; 33(20):1771-1788. PubMed ID: 39101473
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  • 18. Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
    Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA.
    J Biol Chem; 2006 Feb 17; 281(7):4242-53. PubMed ID: 16293621
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  • 19. Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
    Peng Y, Liou B, Inskeep V, Blackwood R, Mayhew CN, Grabowski GA, Sun Y.
    Hum Mol Genet; 2019 Oct 15; 28(20):3406-3421. PubMed ID: 31373366
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  • 20. Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.
    Sun Y, Quinn B, Xu YH, Leonova T, Witte DP, Grabowski GA.
    J Lipid Res; 2006 Oct 15; 47(10):2161-70. PubMed ID: 16861620
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