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Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein.

Petersen D, Reinholdt P, Szomek M, Hansen SK, Poongavanam V, Dupont A, Heegaard CW, Krishnan K, Fujiwara H, Covey DF, Ory DS, Kongsted J, Wüstner D.

Biochim Biophys Acta Biomembr. 2019 Sep 12:183063. doi: 10.1016/j.bbamem.2019.183063. [Epub ahead of print]


Low dose chloroquine decreases insulin resistance in human metabolic syndrome but does not reduce carotid intima-media thickness.

McGill JB, Johnson M, Hurst S, Cade WT, Yarasheski KE, Ostlund RE, Schechtman KB, Razani B, Kastan MB, McClain DA, de Las Fuentes L, Davila-Roman VG, Ory DS, Wickline SA, Semenkovich CF.

Diabetol Metab Syndr. 2019 Jul 29;11:61. doi: 10.1186/s13098-019-0456-4. eCollection 2019.


N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.

Sidhu R, Mondjinou Y, Qian M, Song H, Kumar AB, Hong X, Hsu FF, Dietzen DJ, Yanjanin NM, Porter FD, Berry-Kravis E, Vite CH, Gelb MH, Schaffer JE, Ory DS, Jiang X.

J Lipid Res. 2019 Aug;60(8):1410-1424. doi: 10.1194/jlr.RA119000157. Epub 2019 Jun 14.


Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability.

Vivas O, Tiscione SA, Dixon RE, Ory DS, Dickson EJ.

Cell Rep. 2019 May 28;27(9):2636-2648.e4. doi: 10.1016/j.celrep.2019.04.099.


2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease.

Davidson J, Molitor E, Moores S, Gale SE, Subramanian K, Jiang X, Sidhu R, Kell P, Zhang J, Fujiwara H, Davidson C, Helquist P, Melancon BJ, Grigalunas M, Liu G, Salahi F, Wiest O, Xu X, Porter FD, Pipalia NH, Cruz DL, Holson EB, Schaffer JE, Walkley SU, Maxfield FR, Ory DS.

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Oct;1864(10):1545-1561. doi: 10.1016/j.bbalip.2019.04.011. Epub 2019 Apr 30.


Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders.

Griffiths WJ, Yutuc E, Abdel-Khalik J, Crick PJ, Hearn T, Dickson A, Bigger BW, Hoi-Yee Wu T, Goenka A, Ghosh A, Jones SA, Covey DF, Ory DS, Wang Y.

Free Radic Biol Med. 2019 Apr 19. pii: S0891-5849(19)30330-2. doi: 10.1016/j.freeradbiomed.2019.04.020. [Epub ahead of print]


Synthesis and characterization of diazirine alkyne probes for the study of intracellular cholesterol trafficking.

Feltes M, Moores S, Gale SE, Krishnan K, Mydock-McGrane L, Covey DF, Ory DS, Schaffer JE.

J Lipid Res. 2019 Mar;60(3):707-716. doi: 10.1194/jlr.D091470. Epub 2019 Jan 7.


Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.

Przybilla MJ, Ou L, Tăbăran AF, Jiang X, Sidhu R, Kell PJ, Ory DS, O'Sullivan MG, Whitley CB.

Mol Genet Metab. 2019 Feb;126(2):139-150. doi: 10.1016/j.ymgme.2018.11.002. Epub 2018 Nov 22.


An optical nanoreporter of endolysosomal lipid accumulation reveals enduring effects of diet on hepatic macrophages in vivo.

Galassi TV, Jena PV, Shah J, Ao G, Molitor E, Bram Y, Frankel A, Park J, Jessurun J, Ory DS, Haimovitz-Friedman A, Roxbury D, Mittal J, Zheng M, Schwartz RE, Heller DA.

Sci Transl Med. 2018 Oct 3;10(461). pii: eaar2680. doi: 10.1126/scitranslmed.aar2680.


Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.

Vu M, Li R, Baskfield A, Lu B, Farkhondeh A, Gorshkov K, Motabar O, Beers J, Chen G, Zou J, Espejo-Mojica AJ, Rodríguez-López A, Alméciga-Díaz CJ, Barrera LA, Jiang X, Ory DS, Marugan JJ, Zheng W.

Orphanet J Rare Dis. 2018 Sep 17;13(1):152. doi: 10.1186/s13023-018-0886-3.


Impaired monocyte cholesterol clearance initiates age-related retinal degeneration and vision loss.

Ban N, Lee TJ, Sene A, Choudhary M, Lekwuwa M, Dong Z, Santeford A, Lin JB, Malek G, Ory DS, Apte RS.

JCI Insight. 2018 Sep 6;3(17). pii: 120824. doi: 10.1172/jci.insight.120824. eCollection 2018 Sep 6.


Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS.

Mol Genet Metab. 2019 Feb;126(2):183-187. doi: 10.1016/j.ymgme.2018.08.007. Epub 2018 Aug 24.


Gut Sphingolipid Composition as a Prelude to Necrotizing Enterocolitis.

Rusconi B, Jiang X, Sidhu R, Ory DS, Warner BB, Tarr PI.

Sci Rep. 2018 Jul 20;8(1):10984. doi: 10.1038/s41598-018-28862-4.


Long-range function of secreted small nucleolar RNAs that direct 2'-O-methylation.

Rimer JM, Lee J, Holley CL, Crowder RJ, Chen DL, Hanson PI, Ory DS, Schaffer JE.

J Biol Chem. 2018 Aug 24;293(34):13284-13296. doi: 10.1074/jbc.RA118.003410. Epub 2018 Jul 6.


Disrupted cholesterol metabolism promotes age-related photoreceptor neurodegeneration.

Ban N, Lee TJ, Sene A, Dong Z, Santeford A, Lin JB, Ory DS, Apte RS.

J Lipid Res. 2018 Aug;59(8):1414-1423. doi: 10.1194/jlr.M084442. Epub 2018 Jun 26.


Oxysterol Signatures Distinguish Age-Related Macular Degeneration from Physiologic Aging.

Lin JB, Sene A, Santeford A, Fujiwara H, Sidhu R, Ligon MM, Shankar VA, Ban N, Mysorekar IU, Ory DS, Apte RS.

EBioMedicine. 2018 Jun;32:9-20. doi: 10.1016/j.ebiom.2018.05.035. Epub 2018 Jun 11.


Ceramide Remodeling and Risk of Cardiovascular Events and Mortality.

Peterson LR, Xanthakis V, Duncan MS, Gross S, Friedrich N, Völzke H, Felix SB, Jiang H, Sidhu R, Nauck M, Jiang X, Ory DS, Dörr M, Vasan RS, Schaffer JE.

J Am Heart Assoc. 2018 May 3;7(10). pii: e007931. doi: 10.1161/JAHA.117.007931.


Author Correction: Fourier Transform Infrared Microscopy Enables Guidance of Automated Mass Spectrometry Imaging to Predefined Tissue Morphologies.

Rabe JH, Sammour DA, Schulz S, Munteanu B, Ott M, Ochs K, Hohenberger P, Marx A, Platten M, Opitz CA, Ory DS, Hopf C.

Sci Rep. 2018 Apr 18;8(1):6361. doi: 10.1038/s41598-018-24807-z.


High-content screen for modifiers of Niemann-Pick type C disease in patient cells.

Pugach EK, Feltes M, Kaufman RJ, Ory DS, Bang AG.

Hum Mol Genet. 2018 Jun 15;27(12):2101-2112. doi: 10.1093/hmg/ddy117.


Macrophage microRNA-150 promotes pathological angiogenesis as seen in age-related macular degeneration.

Lin JB, Moolani HV, Sene A, Sidhu R, Kell P, Lin JB, Dong Z, Ban N, Ory DS, Apte RS.

JCI Insight. 2018 Apr 5;3(7). pii: 120157. doi: 10.1172/jci.insight.120157. eCollection 2018 Apr 5.


19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system.

Zhao K, van der Spoel A, Castiglioni C, Gale S, Fujiwara H, Ory DS, Ridgway ND.

Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt A):2108-2118. doi: 10.1016/j.bbadis.2018.03.020. Epub 2018 Mar 24.


A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum.

Sidhu R, Mikulka CR, Fujiwara H, Sands MS, Schaffer JE, Ory DS, Jiang X.

Biomed Chromatogr. 2018 Jul;32(7):e4235. doi: 10.1002/bmc.4235. Epub 2018 Apr 26.


Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.


Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L, Friedmann K, Hernandez M, Ory DS, Porter FD, O'Keefe JA.

Pediatr Neurol. 2018 Mar;80:24-34. doi: 10.1016/j.pediatrneurol.2017.12.014. Epub 2018 Jan 8.


Fourier Transform Infrared Microscopy Enables Guidance of Automated Mass Spectrometry Imaging to Predefined Tissue Morphologies.

Rabe JH, A Sammour D, Schulz S, Munteanu B, Ott M, Ochs K, Hohenberger P, Marx A, Platten M, Opitz CA, Ory DS, Hopf C.

Sci Rep. 2018 Jan 10;8(1):313. doi: 10.1038/s41598-017-18477-6. Erratum in: Sci Rep. 2018 Apr 18;8(1):6361.


AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease).

Bradbury AM, Rafi MA, Bagel JH, Brisson BK, Marshall MS, Pesayco Salvador J, Jiang X, Swain GP, Prociuk ML, ODonnell PA, Fitzgerald C, Ory DS, Bongarzone ER, Shelton GD, Wenger DA, Vite CH.

Hum Gene Ther. 2018 Jul;29(7):785-801. doi: 10.1089/hum.2017.151. Epub 2018 Mar 14.


Structural design of intrinsically fluorescent oxysterols.

Nåbo LJ, Modzel M, Krishnan K, Covey DF, Fujiwara H, Ory DS, Szomek M, Khandelia H, Wüstner D, Kongsted J.

Chem Phys Lipids. 2018 May;212:26-34. doi: 10.1016/j.chemphyslip.2017.12.005. Epub 2017 Dec 26.


Bariatric Surgery-Induced Cardiac and Lipidomic Changes in Obesity-Related Heart Failure with Preserved Ejection Fraction.

Mikhalkova D, Holman SR, Jiang H, Saghir M, Novak E, Coggan AR, O'Connor R, Bashir A, Jamal A, Ory DS, Schaffer JE, Eagon JC, Peterson LR.

Obesity (Silver Spring). 2018 Feb;26(2):284-290. doi: 10.1002/oby.22038. Epub 2017 Dec 15.


Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.

Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E.

Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21.


Eggs early in complementary feeding increase choline pathway biomarkers and DHA: a randomized controlled trial in Ecuador.

Iannotti LL, Lutter CK, Waters WF, Gallegos Riofrío CA, Malo C, Reinhart G, Palacios A, Karp C, Chapnick M, Cox K, Aguirre S, Narvaez L, López F, Sidhu R, Kell P, Jiang X, Fujiwara H, Ory DS, Young R, Stewart CP.

Am J Clin Nutr. 2017 Dec;106(6):1482-1489. doi: 10.3945/ajcn.117.160515. Epub 2017 Nov 1.


Nuclear export factor 3 regulates localization of small nucleolar RNAs.

Li MW, Sletten AC, Lee J, Pyles KD, Matkovich SJ, Ory DS, Schaffer JE.

J Biol Chem. 2017 Dec 8;292(49):20228-20239. doi: 10.1074/jbc.M117.818146. Epub 2017 Oct 11.


Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy.

Gray-Edwards HL, Jiang X, Randle AN, Taylor AR, Voss TL, Johnson AK, McCurdy VJ, Sena-Esteves M, Ory DS, Martin DR.

Mol Ther Methods Clin Dev. 2017 Jul 26;6:135-142. doi: 10.1016/j.omtm.2017.07.005. eCollection 2017 Sep 15.


Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD.

Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.


Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells.

Li R, Hao J, Fujiwara H, Xu M, Yang S, Dai S, Long Y, Swaroop M, Li C, Vu M, Marugan JJ, Ory DS, Zheng W.

Assay Drug Dev Technol. 2017 May/Jun;15(4):154-166. doi: 10.1089/adt.2017.774.


Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK.

Dai S, Dulcey AE, Hu X, Wassif CA, Porter FD, Austin CP, Ory DS, Marugan J, Zheng W.

Autophagy. 2017 Aug 3;13(8):1435-1451. doi: 10.1080/15548627.2017.1329081. Epub 2017 Jun 14.


Lysosomal cholesterol activates mTORC1 via an SLC38A9-Niemann-Pick C1 signaling complex.

Castellano BM, Thelen AM, Moldavski O, Feltes M, van der Welle RE, Mydock-McGrane L, Jiang X, van Eijkeren RJ, Davis OB, Louie SM, Perera RM, Covey DF, Nomura DK, Ory DS, Zoncu R.

Science. 2017 Mar 24;355(6331):1306-1311. doi: 10.1126/science.aag1417.


Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.

Munkacsi AB, Hammond N, Schneider RT, Senanayake DS, Higaki K, Lagutin K, Bloor SJ, Ory DS, Maue RA, Chen FW, Hernandez-Ono A, Dahlson N, Repa JJ, Ginsberg HN, Ioannou YA, Sturley SL.

J Biol Chem. 2017 Mar 17;292(11):4395-4410. doi: 10.1074/jbc.M116.770578. Epub 2016 Dec 28.


Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway.

Fineran P, Lloyd-Evans E, Lack NA, Platt N, Davis LC, Morgan AJ, Höglinger D, Tatituri RVV, Clark S, Williams IM, Tynan P, Al Eisa N, Nazarova E, Williams A, Galione A, Ory DS, Besra GS, Russell DG, Brenner MB, Sim E, Platt FM.

Wellcome Open Res. 2016 Nov 18;1:18. doi: 10.12688/wellcomeopenres.10036.2.


Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Walkley SU, Davidson CD, Jacoby J, Marella PD, Ottinger EA, Austin CP, Porter FD, Vite CH, Ory DS.

Orphanet J Rare Dis. 2016 Dec 1;11(1):161.


Prevention of hepatic fibrosis with liver microsomal triglyceride transfer protein deletion in liver fatty acid binding protein null mice.

Newberry EP, Xie Y, Kennedy SM, Graham MJ, Crooke RM, Jiang H, Chen A, Ory DS, Davidson NO.

Hepatology. 2017 Mar;65(3):836-852. doi: 10.1002/hep.28941. Epub 2017 Jan 19.


Rpl13a small nucleolar RNAs regulate systemic glucose metabolism.

Lee J, Harris AN, Holley CL, Mahadevan J, Pyles KD, Lavagnino Z, Scherrer DE, Fujiwara H, Sidhu R, Zhang J, Huang SC, Piston DW, Remedi MS, Urano F, Ory DS, Schaffer JE.

J Clin Invest. 2016 Dec 1;126(12):4616-4625. doi: 10.1172/JCI88069. Epub 2016 Nov 7.


Fatty acid synthesis configures the plasma membrane for inflammation in diabetes.

Wei X, Song H, Yin L, Rizzo MG, Sidhu R, Covey DF, Ory DS, Semenkovich CF.

Nature. 2016 Nov 10;539(7628):294-298. doi: 10.1038/nature20117. Epub 2016 Nov 2.


Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease).

Bradbury AM, Bagel JH, Jiang X, Swain GP, Prociuk ML, Fitzgerald CA, O'Donnell PA, Braund KG, Ory DS, Vite CH.

J Neurosci Res. 2016 Nov;94(11):1007-17. doi: 10.1002/jnr.23838.


A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.

Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W, Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS, Pavan WJ, Sidransky E.

Dis Model Mech. 2016 Jul 1;9(7):769-78. doi: 10.1242/dmm.024588. Epub 2016 May 19.


A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.

Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E.

J Neurosci. 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016.


Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

Ebrahimi-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H.

Hum Mol Genet. 2016 Aug 15;25(16):3588-3599. doi: 10.1093/hmg/ddw204. Epub 2016 Jul 4.


Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.

Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326.


Towards a New Diagnostic Standard for Niemann-Pick C Disease.

Jiang X, Ory DS.

EBioMedicine. 2016 Jan 9;4:18-9. doi: 10.1016/j.ebiom.2016.01.004. eCollection 2016 Feb. No abstract available.


Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.

Chung C, Puthanveetil P, Ory DS, Lieberman AP.

Hum Mol Genet. 2016 Apr 1;25(7):1434-46. doi: 10.1093/hmg/ddw025. Epub 2016 Jan 28.


Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.

Adebali O, Reznik AO, Ory DS, Zhulin IB.

Genet Med. 2016 Oct;18(10):1029-36. doi: 10.1038/gim.2015.208. Epub 2016 Feb 18.

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