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Items: 1 to 20 of 118

1.

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.

Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ.

Mol Ther. 2010 Jan;18(1):23-33. doi: 10.1038/mt.2009.220. Epub 2009 Sep 22.

3.

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ.

J Inherit Metab Dis. 2009 Jun;32(3):424-40. doi: 10.1007/s10545-009-1077-0. Epub 2009 Apr 18.

PMID:
19387866
4.

Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease.

Ishii S, Chang HH, Yoshioka H, Shimada T, Mannen K, Higuchi Y, Taguchi A, Fan JQ.

J Pharmacol Exp Ther. 2009 Mar;328(3):723-31. doi: 10.1124/jpet.108.149054. Epub 2008 Dec 23.

5.

Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.

Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio-Yamada K, Yoshioka H, Hamanaka R, Yano S, Yokoyama S, Mannen K, Kulkarni AB, Furukawa K, Ishii S.

J Biochem. 2011 Feb;149(2):161-70. doi: 10.1093/jb/mvq125. Epub 2010 Oct 19.

6.

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Young-Gqamana B, Brignol N, Chang HH, Khanna R, Soska R, Fuller M, Sitaraman SA, Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER.

PLoS One. 2013;8(3):e57631. doi: 10.1371/journal.pone.0057631. Epub 2013 Mar 5.

7.

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.

Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J.

Am J Physiol Cell Physiol. 2006 Apr;290(4):C1076-82.

8.

Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice.

Benjamin ER, Khanna R, Schilling A, Flanagan JJ, Pellegrino LJ, Brignol N, Lun Y, Guillen D, Ranes BE, Frascella M, Soska R, Feng J, Dungan L, Young B, Lockhart DJ, Valenzano KJ.

Mol Ther. 2012 Apr;20(4):717-26. doi: 10.1038/mt.2011.271. Epub 2012 Jan 3.

9.

Pharmacological chaperone therapy for Fabry disease.

Ishii S.

Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(1):18-30.

11.

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.

Porto C, Pisani A, Rosa M, Acampora E, Avolio V, Tuzzi MR, Visciano B, Gagliardo C, Materazzi S, la Marca G, Andria G, Parenti G.

J Inherit Metab Dis. 2012 May;35(3):513-20. doi: 10.1007/s10545-011-9424-3. Epub 2011 Dec 21.

PMID:
22187137
12.

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, Lockhart DJ, Boudes PF.

Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91.

13.

Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.

Yu Y, Mena-Barragán T, Higaki K, Johnson JL, Drury JE, Lieberman RL, Nakasone N, Ninomiya H, Tsukimura T, Sakuraba H, Suzuki Y, Nanba E, Mellet CO, García Fernández JM, Ohno K.

ACS Chem Biol. 2014 Jul 18;9(7):1460-9. doi: 10.1021/cb500143h. Epub 2014 May 12.

PMID:
24783948
14.

Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer.

Ziegler RJ, Yew NS, Li C, Cherry M, Berthelette P, Romanczuk H, Ioannou YA, Zeidner KM, Desnick RJ, Cheng SH.

Hum Gene Ther. 1999 Jul 1;10(10):1667-82.

PMID:
10428212
15.

Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.

Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH, Yew NS.

J Gene Med. 2004 Jan;6(1):85-92.

PMID:
14716680
16.

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK.

PLoS One. 2015 Aug 7;10(8):e0134341. doi: 10.1371/journal.pone.0134341. eCollection 2015.

17.

Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes.

Hamanaka R, Shinohara T, Yano S, Nakamura M, Yasuda A, Yokoyama S, Fan JQ, Kawasaki K, Watanabe M, Ishii S.

Biochim Biophys Acta. 2008 Jun;1782(6):408-13. doi: 10.1016/j.bbadis.2008.03.001. Epub 2008 Mar 12.

18.

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

Giugliani R, Waldek S, Germain DP, Nicholls K, Bichet DG, Simosky JK, Bragat AC, Castelli JP, Benjamin ER, Boudes PF.

Mol Genet Metab. 2013 May;109(1):86-92. doi: 10.1016/j.ymgme.2013.01.009. Epub 2013 Jan 26.

19.

α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.

Siekierska A, De Baets G, Reumers J, Gallardo R, Rudyak S, Broersen K, Couceiro J, Van Durme J, Schymkowitz J, Rousseau F.

J Biol Chem. 2012 Aug 17;287(34):28386-97. doi: 10.1074/jbc.M112.351056. Epub 2012 Jul 6.

20.

Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.

Marshall J, Ashe KM, Bangari D, McEachern K, Chuang WL, Pacheco J, Copeland DP, Desnick RJ, Shayman JA, Scheule RK, Cheng SH.

PLoS One. 2010 Nov 24;5(11):e15033. doi: 10.1371/journal.pone.0015033.

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