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Items: 1 to 50 of 70

1.

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

Kishnani P, Tarnopolsky M, Roberts M, Sivakumar K, Dasouki M, Dimachkie MM, Finanger E, Goker-Alpan O, Guter KA, Mozaffar T, Pervaiz MA, Laforet P, Levine T, Adera M, Lazauskas R, Sitaraman S, Khanna R, Benjamin E, Feng J, Flanagan JJ, Barth J, Barlow C, Lockhart DJ, Valenzano KJ, Boudes P, Johnson FK, Byrne B.

Mol Ther. 2017 May 3;25(5):1199-1208. doi: 10.1016/j.ymthe.2017.02.017. Epub 2017 Mar 22.

2.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.

3.

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ.

Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.

4.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.

5.

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.

6.

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice.

Xu S, Lun Y, Brignol N, Hamler R, Schilling A, Frascella M, Sullivan S, Boyd RE, Chang K, Soska R, Garcia A, Feng J, Yasukawa H, Shardlow C, Churchill A, Ketkar A, Robertson N, Miyamoto M, Mihara K, Benjamin ER, Lockhart DJ, Hirato T, Fowles S, Valenzano KJ, Khanna R.

Mol Ther. 2015 Jul;23(7):1169-1181. doi: 10.1038/mt.2015.87. Epub 2015 Apr 27.

7.

Evidence that small molecule enhancement of β-hexosaminidase activity corrects the behavioral phenotype in Dutch APP(E693Q) mice through reduction of ganglioside-bound Aβ.

Knight EM, Williams HN, Stevens AC, Kim SH, Kottwitz JC, Morant AD, Steele JW, Klein WL, Yanagisawa K, Boyd RE, Lockhart DJ, Sjoberg ER, Ehrlich ME, Wustman BA, Gandy S.

Mol Psychiatry. 2015 Feb;20(1):109-17. doi: 10.1038/mp.2014.135. Epub 2014 Oct 28.

8.

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.

9.

The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

Khanna R, Powe AC Jr, Lun Y, Soska R, Feng J, Dhulipala R, Frascella M, Garcia A, Pellegrino LJ, Xu S, Brignol N, Toth MJ, Do HV, Lockhart DJ, Wustman BA, Valenzano KJ.

PLoS One. 2014 Jul 18;9(7):e102092. doi: 10.1371/journal.pone.0102092. eCollection 2014.

10.

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.

Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L.

J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394.

11.

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.

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.

The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.

Khanna R, Flanagan JJ, Feng J, Soska R, Frascella M, Pellegrino LJ, Lun Y, Guillen D, Lockhart DJ, Valenzano KJ.

PLoS One. 2012;7(7):e40776. doi: 10.1371/journal.pone.0040776. Epub 2012 Jul 18.

14.

Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide.

Keilani S, Lun Y, Stevens AC, Williams HN, Sjoberg ER, Khanna R, Valenzano KJ, Checler F, Buxbaum JD, Yanagisawa K, Lockhart DJ, Wustman BA, Gandy S.

J Neurosci. 2012 Apr 11;32(15):5223-36. doi: 10.1523/JNEUROSCI.4860-11.2012.

15.

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.

16.

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, Schiffmann R, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER.

Hum Mutat. 2011 Aug;32(8):965-77. doi: 10.1002/humu.21530. Epub 2011 Jul 12.

17.

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.

Khanna R, Benjamin ER, Pellegrino L, Schilling A, Rigat BA, Soska R, Nafar H, Ranes BE, Feng J, Lun Y, Powe AC, Palling DJ, Wustman BA, Schiffmann R, Mahuran DJ, Lockhart DJ, Valenzano KJ.

FEBS J. 2010 Apr;277(7):1618-38. doi: 10.1111/j.1742-4658.2010.07588.x. Epub 2010 Feb 10.

18.

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.

Flanagan JJ, Rossi B, Tang K, Wu X, Mascioli K, Donaudy F, Tuzzi MR, Fontana F, Cubellis MV, Porto C, Benjamin E, Lockhart DJ, Valenzano KJ, Andria G, Parenti G, Do HV.

Hum Mutat. 2009 Dec;30(12):1683-92. doi: 10.1002/humu.21121.

PMID:
19862843
19.

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.

20.

Arylcarboxyamino-substituted diaryl ureas as potent and selective FLT3 inhibitors.

Patel HK, Grotzfeld RM, Lai AG, Mehta SA, Milanov ZV, Chao Q, Sprankle KG, Carter TA, Velasco AM, Fabian MA, James J, Treiber DK, Lockhart DJ, Zarrinkar PP, Bhagwat SS.

Bioorg Med Chem Lett. 2009 Sep 1;19(17):5182-5. doi: 10.1016/j.bmcl.2009.07.024. Epub 2009 Jul 9.

PMID:
19646870
21.

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
22.

Tuning a three-component reaction for trapping kinase substrate complexes.

Statsuk AV, Maly DJ, Seeliger MA, Fabian MA, Biggs WH 3rd, Lockhart DJ, Zarrinkar PP, Kuriyan J, Shokat KM.

J Am Chem Soc. 2008 Dec 24;130(51):17568-74. doi: 10.1021/ja807066f.

23.

A quantitative analysis of kinase inhibitor selectivity.

Karaman MW, Herrgard S, Treiber DK, Gallant P, Atteridge CE, Campbell BT, Chan KW, Ciceri P, Davis MI, Edeen PT, Faraoni R, Floyd M, Hunt JP, Lockhart DJ, Milanov ZV, Morrison MJ, Pallares G, Patel HK, Pritchard S, Wodicka LM, Zarrinkar PP.

Nat Biotechnol. 2008 Jan;26(1):127-32. doi: 10.1038/nbt1358.

PMID:
18183025
24.

Detecting genetic variation in microarray expression data.

Greenhall JA, Zapala MA, Cáceres M, Libiger O, Barlow C, Schork NJ, Lockhart DJ.

Genome Res. 2007 Aug;17(8):1228-35. Epub 2007 Jul 3.

25.

DNA variation and brain region-specific expression profiles exhibit different relationships between inbred mouse strains: implications for eQTL mapping studies.

Hovatta I, Zapala MA, Broide RS, Schadt EE, Libiger O, Schork NJ, Lockhart DJ, Barlow C.

Genome Biol. 2007;8(2):R25.

26.

Structure of the kinase domain of an imatinib-resistant Abl mutant in complex with the Aurora kinase inhibitor VX-680.

Young MA, Shah NP, Chao LH, Seeliger M, Milanov ZV, Biggs WH 3rd, Treiber DK, Patel HK, Zarrinkar PP, Lockhart DJ, Sawyers CL, Kuriyan J.

Cancer Res. 2006 Jan 15;66(2):1007-14.

27.

Glyoxalase 1 and glutathione reductase 1 regulate anxiety in mice.

Hovatta I, Tennant RS, Helton R, Marr RA, Singer O, Redwine JM, Ellison JA, Schadt EE, Verma IM, Lockhart DJ, Barlow C.

Nature. 2005 Dec 1;438(7068):662-6. Epub 2005 Oct 23.

PMID:
16244648
28.

Aberrant recombination involving the granzyme locus occurs in Atm-/- T-cell lymphomas.

Winrow CJ, Pankratz DG, Vibat CR, Bowen TJ, Callahan MA, Warren AJ, Hilbush BS, Wynshaw-Boris A, Hasel KW, Weaver Z, Lockhart DJ, Barlow C.

Hum Mol Genet. 2005 Sep 15;14(18):2671-84. Epub 2005 Aug 8.

PMID:
16087685
29.

Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases.

Carter TA, Wodicka LM, Shah NP, Velasco AM, Fabian MA, Treiber DK, Milanov ZV, Atteridge CE, Biggs WH 3rd, Edeen PT, Floyd M, Ford JM, Grotzfeld RM, Herrgard S, Insko DE, Mehta SA, Patel HK, Pao W, Sawyers CL, Varmus H, Zarrinkar PP, Lockhart DJ.

Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):11011-6. Epub 2005 Jul 26.

30.

Adult mouse brain gene expression patterns bear an embryologic imprint.

Zapala MA, Hovatta I, Ellison JA, Wodicka L, Del Rio JA, Tennant R, Tynan W, Broide RS, Helton R, Stoveken BS, Winrow C, Lockhart DJ, Reilly JF, Young WG, Bloom FE, Lockhart DJ, Barlow C.

Proc Natl Acad Sci U S A. 2005 Jul 19;102(29):10357-62. Epub 2005 Jul 7.

31.

Mechanisms of aging in senescence-accelerated mice.

Carter TA, Greenhall JA, Yoshida S, Fuchs S, Helton R, Swaroop A, Lockhart DJ, Barlow C.

Genome Biol. 2005;6(6):R48. Epub 2005 Jun 1.

32.

A small molecule-kinase interaction map for clinical kinase inhibitors.

Fabian MA, Biggs WH 3rd, Treiber DK, Atteridge CE, Azimioara MD, Benedetti MG, Carter TA, Ciceri P, Edeen PT, Floyd M, Ford JM, Galvin M, Gerlach JL, Grotzfeld RM, Herrgard S, Insko DE, Insko MA, Lai AG, Lélias JM, Mehta SA, Milanov ZV, Velasco AM, Wodicka LM, Patel HK, Zarrinkar PP, Lockhart DJ.

Nat Biotechnol. 2005 Mar;23(3):329-36. Epub 2005 Feb 13.

33.

Elevated gene expression levels distinguish human from non-human primate brains.

Cáceres M, Lachuer J, Zapala MA, Redmond JC, Kudo L, Geschwind DH, Lockhart DJ, Preuss TM, Barlow C.

Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):13030-5. Epub 2003 Oct 13.

34.

DNA arrays and neurobiology--what's new and what's next?

Barlow C, Lockhart DJ.

Curr Opin Neurobiol. 2002 Oct;12(5):554-61. Review.

PMID:
12367635
35.

Parallel identification of new genes in Saccharomyces cerevisiae.

Oshiro G, Wodicka LM, Washburn MP, Yates JR 3rd, Lockhart DJ, Winzeler EA.

Genome Res. 2002 Aug;12(8):1210-20.

36.

Software and methods for oligonucleotide and cDNA array data analysis.

Zapala MA, Lockhart DJ, Pankratz DG, Garcia AJ, Barlow C, Lockhart DJ.

Genome Biol. 2002;3(6):SOFTWARE0001. Epub 2002 May 23.

37.

Multiplex metallica.

Lockhart DJ, Trulson MO.

Nat Biotechnol. 2001 Dec;19(12):1122-3. No abstract available.

PMID:
11731778
38.

Replication dynamics of the yeast genome.

Raghuraman MK, Winzeler EA, Collingwood D, Hunt S, Wodicka L, Conway A, Lockhart DJ, Davis RW, Brewer BJ, Fangman WL.

Science. 2001 Oct 5;294(5540):115-21.

39.

Chipping away at complex behavior: transcriptome/phenotype correlations in the mouse brain.

Carter TA, Del Rio JA, Greenhall JA, Latronica ML, Lockhart DJ, Barlow C.

Physiol Behav. 2001 Aug;73(5):849-57.

PMID:
11566218
40.

Arrays of arrays for high-throughput gene expression profiling.

Zarrinkar PP, Mainquist JK, Zamora M, Stern D, Welsh JB, Sapinoso LM, Hampton GM, Lockhart DJ.

Genome Res. 2001 Jul;11(7):1256-61.

41.

Expressing what's on your mind: DNA arrays and the brain.

Lockhart DJ, Barlow C.

Nat Rev Neurosci. 2001 Jan;2(1):63-8. Review.

PMID:
11253360
42.

Analysis of gene expression profiles in normal and neoplastic ovarian tissue samples identifies candidate molecular markers of epithelial ovarian cancer.

Welsh JB, Zarrinkar PP, Sapinoso LM, Kern SG, Behling CA, Monk BJ, Lockhart DJ, Burger RA, Hampton GM.

Proc Natl Acad Sci U S A. 2001 Jan 30;98(3):1176-81.

43.

Transcriptional regulation and function during the human cell cycle.

Cho RJ, Huang M, Campbell MJ, Dong H, Steinmetz L, Sapinoso L, Hampton G, Elledge SJ, Davis RW, Lockhart DJ.

Nat Genet. 2001 Jan;27(1):48-54.

PMID:
11137997
44.

RNA expression analysis using a 30 base pair resolution Escherichia coli genome array.

Selinger DW, Cheung KJ, Mei R, Johansson EM, Richmond CS, Blattner FR, Lockhart DJ, Church GM.

Nat Biotechnol. 2000 Dec;18(12):1262-8.

PMID:
11101804
45.

Expression profiling of neural cells reveals specific patterns of ethanol-responsive gene expression.

Thibault C, Lai C, Wilke N, Duong B, Olive MF, Rahman S, Dong H, Hodge CW, Lockhart DJ, Miles MF.

Mol Pharmacol. 2000 Dec;58(6):1593-600.

PMID:
11093800
46.

Effects of environmental enrichment on gene expression in the brain.

Rampon C, Jiang CH, Dong H, Tang YP, Lockhart DJ, Schultz PG, Tsien JZ, Hu Y.

Proc Natl Acad Sci U S A. 2000 Nov 7;97(23):12880-4.

47.

Regional and strain-specific gene expression mapping in the adult mouse brain.

Sandberg R, Yasuda R, Pankratz DG, Carter TA, Del Rio JA, Wodicka L, Mayford M, Lockhart DJ, Barlow C.

Proc Natl Acad Sci U S A. 2000 Sep 26;97(20):11038-43.

48.

Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays.

Mei R, Galipeau PC, Prass C, Berno A, Ghandour G, Patil N, Wolff RK, Chee MS, Reid BJ, Lockhart DJ.

Genome Res. 2000 Aug;10(8):1126-37.

49.

Genomics, gene expression and DNA arrays.

Lockhart DJ, Winzeler EA.

Nature. 2000 Jun 15;405(6788):827-36. Review.

PMID:
10866209
50.

Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays.

Fan JB, Chen X, Halushka MK, Berno A, Huang X, Ryder T, Lipshutz RJ, Lockhart DJ, Chakravarti A.

Genome Res. 2000 Jun;10(6):853-60.

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