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Items: 1 to 20 of 122

1.

Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.

Cabrera-Salazar MA, Deriso M, Bercury SD, Li L, Lydon JT, Weber W, Pande N, Cromwell MA, Copeland D, Leonard J, Cheng SH, Scheule RK.

PLoS One. 2012;7(8):e43310. doi: 10.1371/journal.pone.0043310. Epub 2012 Aug 17.

2.

Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease.

Cabrera-Salazar MA, Bercury SD, Ziegler RJ, Marshall J, Hodges BL, Chuang WL, Pacheco J, Li L, Cheng SH, Scheule RK.

Exp Neurol. 2010 Oct;225(2):436-44. doi: 10.1016/j.expneurol.2010.07.023. Epub 2010 Jul 29.

PMID:
20673762
3.

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.

4.

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.

5.

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease.

McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, Hutto E, Shayman JA, Grabowski GA, Aerts JM, Cheng SH, Copeland DP, Marshall J.

Mol Genet Metab. 2007 Jul;91(3):259-67. Epub 2007 May 16.

PMID:
17509920
6.

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy.

Marshall J, McEachern KA, Chuang WL, Hutto E, Siegel CS, Shayman JA, Grabowski GA, Scheule RK, Copeland DP, Cheng SH.

J Inherit Metab Dis. 2010 Jun;33(3):281-9. doi: 10.1007/s10545-010-9072-z. Epub 2010 Mar 25.

8.

Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease.

Ashe KM, Bangari D, Li L, Cabrera-Salazar MA, Bercury SD, Nietupski JB, Cooper CG, Aerts JM, Lee ER, Copeland DP, Cheng SH, Scheule RK, Marshall J.

PLoS One. 2011;6(6):e21758. doi: 10.1371/journal.pone.0021758. Epub 2011 Jun 29.

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 Dec 31;9(12):e116023. doi: 10.1371/journal.pone.0116023. eCollection 2014.

10.

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants.

Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L.

Clin Genet. 1985 May;27(5):443-50.

PMID:
3924448
11.

Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.

Moyses C.

Philos Trans R Soc Lond B Biol Sci. 2003 May 29;358(1433):955-60. Review.

12.

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.

Bennett LL, Turcotte K.

Drug Des Devel Ther. 2015 Aug 18;9:4639-47. doi: 10.2147/DDDT.S77760. eCollection 2015. Review. Erratum in: Drug Des Devel Ther. 2015;9:5213.

13.

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.

14.

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.

16.

Substrate reduction therapy of glycosphingolipid storage disorders.

Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):449-56.

PMID:
16763917
17.

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.

18.

Glucocerebrosidase inhibitors for the treatment of Gaucher disease.

Trapero A, Llebaria A.

Future Med Chem. 2013 Apr;5(5):573-90. doi: 10.4155/fmc.13.14. Review.

PMID:
23573974
19.

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice.

Nietupski JB, Pacheco JJ, Chuang WL, Maratea K, Li L, Foley J, Ashe KM, Cooper CG, Aerts JM, Copeland DP, Scheule RK, Cheng SH, Marshall J.

Mol Genet Metab. 2012 Apr;105(4):621-8. doi: 10.1016/j.ymgme.2012.01.020. Epub 2012 Feb 1.

PMID:
22366055
20.

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.

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