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Items: 1 to 20 of 108

1.

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. doi: 10.1016/j.ymgme.2010.12.014. Epub 2010 Dec 31.

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. doi: 10.1093/hmg/ddp580. Epub 2010 Jan 4.

3.

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.

Xu YH, Xu K, Sun Y, Liou B, Quinn B, Li RH, Xue L, Zhang W, Setchell KD, Witte D, Grabowski GA.

Hum Mol Genet. 2014 Aug 1;23(15):3943-57. doi: 10.1093/hmg/ddu105. Epub 2014 Mar 5.

4.
5.

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. doi: 10.1371/journal.pone.0057560. Epub 2013 Mar 8.

6.

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 3;287(6):4275-87. doi: 10.1074/jbc.M111.280016. Epub 2011 Dec 13.

7.

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D.

Cell. 2011 Jul 8;146(1):37-52. doi: 10.1016/j.cell.2011.06.001. Epub 2011 Jun 23.

8.

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.

Farfel-Becker T, Vitner EB, Kelly SL, Bame JR, Duan J, Shinder V, Merrill AH Jr, Dobrenis K, Futerman AH.

Hum Mol Genet. 2014 Feb 15;23(4):843-54. doi: 10.1093/hmg/ddt468. Epub 2013 Sep 24.

9.

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. doi: 10.1016/j.ymgme.2008.01.013. Epub 2008 Mar 17.

10.

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 26;110(9):3537-42. doi: 10.1073/pnas.1220464110. Epub 2013 Jan 7.

11.

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 15;24(24):7031-48. doi: 10.1093/hmg/ddv404. Epub 2015 Sep 29.

12.

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. Epub 2006 Jul 21.

13.

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.

14.

Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.

Sun Y, Florer J, Mayhew CN, Jia Z, Zhao Z, Xu K, Ran H, Liou B, Zhang W, Setchell KD, Gu J, Grabowski GA.

PLoS One. 2015 Mar 30;10(3):e0118771. doi: 10.1371/journal.pone.0118771. eCollection 2015.

15.

Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice.

Rocha EM, Smith GA, Park E, Cao H, Graham AR, Brown E, McLean JR, Hayes MA, Beagan J, Izen SC, Perez-Torres E, Hallett PJ, Isacson O.

Antioxid Redox Signal. 2015 Aug 20;23(6):550-64. doi: 10.1089/ars.2015.6307. Epub 2015 Jul 29.

16.

Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases.

Yap TL, Gruschus JM, Velayati A, Westbroek W, Goldin E, Moaven N, Sidransky E, Lee JC.

J Biol Chem. 2011 Aug 12;286(32):28080-8. doi: 10.1074/jbc.M111.237859. Epub 2011 Jun 8.

17.

CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy.

Sardi SP, Clarke J, Kinnecom C, Tamsett TJ, Li L, Stanek LM, Passini MA, Grabowski GA, Schlossmacher MG, Sidman RL, Cheng SH, Shihabuddin LS.

Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):12101-6. doi: 10.1073/pnas.1108197108. Epub 2011 Jul 5.

18.

Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.

Uemura N, Koike M, Ansai S, Kinoshita M, Ishikawa-Fujiwara T, Matsui H, Naruse K, Sakamoto N, Uchiyama Y, Todo T, Takeda S, Yamakado H, Takahashi R.

PLoS Genet. 2015 Apr 2;11(4):e1005065. doi: 10.1371/journal.pgen.1005065. eCollection 2015 Apr.

19.

A GCase chaperone improves motor function in a mouse model of synucleinopathy.

Richter F, Fleming SM, Watson M, Lemesre V, Pellegrino L, Ranes B, Zhu C, Mortazavi F, Mulligan CK, Sioshansi PC, Hean S, De La Rosa K, Khanna R, Flanagan J, Lockhart DJ, Wustman BA, Clark SW, Chesselet MF.

Neurotherapeutics. 2014 Oct;11(4):840-56. doi: 10.1007/s13311-014-0294-x.

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