212 related articles for article (PubMed ID: 23520473)
1. 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; 8(3):e57560. PubMed ID: 23520473
[TBL] [Abstract][Full Text] [Related]
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; 19(6):1088-97. PubMed ID: 20047948
[TBL] [Abstract][Full Text] [Related]
3. Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.
Sun Y; Liou B; Xu YH; Quinn B; Zhang W; Hamler R; Setchell KD; Grabowski GA
J Biol Chem; 2012 Feb; 287(6):4275-87. PubMed ID: 22167193
[TBL] [Abstract][Full Text] [Related]
4. 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; 9(1):5571. PubMed ID: 30944381
[TBL] [Abstract][Full Text] [Related]
5. 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; 46(10):2102-13. PubMed ID: 16061944
[TBL] [Abstract][Full Text] [Related]
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; 163(5):2093-101. PubMed ID: 14578207
[TBL] [Abstract][Full Text] [Related]
7. 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; 102(4):436-47. PubMed ID: 21257328
[TBL] [Abstract][Full Text] [Related]
8. Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Sardi SP; Clarke J; Viel C; Chan M; Tamsett TJ; Treleaven CM; Bu J; Sweet L; Passini MA; Dodge JC; Yu WH; Sidman RL; Cheng SH; Shihabuddin LS
Proc Natl Acad Sci U S A; 2013 Feb; 110(9):3537-42. PubMed ID: 23297226
[TBL] [Abstract][Full Text] [Related]
9. Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model.
Barnes S; Xu YH; Zhang W; Liou B; Setchell KD; Bao L; Grabowski GA; Sun Y
PLoS One; 2014; 9(12):e116023. PubMed ID: 25551612
[TBL] [Abstract][Full Text] [Related]
10. 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; 47(10):2161-70. PubMed ID: 16861620
[TBL] [Abstract][Full Text] [Related]
11. A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease.
Furderer ML; Berhe B; Chen TC; Wincovitch S; Jiang X; Tayebi N; Sidransky E; Han TU
Int J Mol Sci; 2024 Feb; 25(3):. PubMed ID: 38339105
[TBL] [Abstract][Full Text] [Related]
12. Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
Xu YH; Reboulet R; Quinn B; Huelsken J; Witte D; Grabowski GA
Mol Genet Metab; 2008 Jun; 94(2):190-203. PubMed ID: 18346921
[TBL] [Abstract][Full Text] [Related]
13. Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.
Dai M; Liou B; Swope B; Wang X; Zhang W; Inskeep V; Grabowski GA; Sun Y; Pan D
PLoS One; 2016; 11(9):e0162367. PubMed ID: 27598339
[TBL] [Abstract][Full Text] [Related]
14. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
Burke DG; Rahim AA; Waddington SN; Karlsson S; Enquist I; Bhatia K; Mehta A; Vellodi A; Heales S
J Inherit Metab Dis; 2013 Sep; 36(5):869-72. PubMed ID: 23151684
[TBL] [Abstract][Full Text] [Related]
15. Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Pandey MK; Burrow TA; Rani R; Martin LJ; Witte D; Setchell KD; Mckay MA; Magnusen AF; Zhang W; Liou B; Köhl J; Grabowski GA
Nature; 2017 Mar; 543(7643):108-112. PubMed ID: 28225753
[TBL] [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; 19(4):634-47. PubMed ID: 20015957
[TBL] [Abstract][Full Text] [Related]
17. Novel beta-glucocerebrosidase chaperone compounds identified from cell-based screening reduce pathologically accumulated glucosylsphingosine in iPS-derived neuronal cells.
Naito Y; Sakamoto S; Kojima T; Homma M; Tanaka M; Matsui H
SLAS Discov; 2023 Oct; 28(7):344-349. PubMed ID: 37369311
[TBL] [Abstract][Full Text] [Related]
18. Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Dasgupta N; Xu YH; Li R; Peng Y; Pandey MK; Tinch SL; Liou B; Inskeep V; Zhang W; Setchell KD; Keddache M; Grabowski GA; Sun Y
Hum Mol Genet; 2015 Dec; 24(24):7031-48. PubMed ID: 26420838
[TBL] [Abstract][Full Text] [Related]
19. 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; 16(8):957-71. PubMed ID: 17353235
[TBL] [Abstract][Full Text] [Related]
20. 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; 390(Pt 1):95-103. PubMed ID: 15826241
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
