Page 46 - CBAC Newsletter 2017

Publications

July 2016 - July 2017

Daniel ory, M.D. (Con't.)

Neurons from Patients with Gaucher Disease and Parkinsonism. J Neurosci. 2016 Jul 13;36(28):7441-52.
PMID: 27413154, PMCID: PMC4945664
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. Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol
trafficking in Niemann-pick type C1 disease cells. Hum Mol Genet. 2016 Aug 15;25(16):3588-3599.
Epub 2016 Jul 4. PMID: 27378690, PMCID: PMC5179952
Adebali O, Reznik AO, Ory DS, Zhulin IB. Establishing the precise evolutionary history of a gene improves prediction of
disease-causing missense mutations. Genet Med. 2016 Oct;18(10):1029-36. Epub 2016 Feb 18.
PMID: 26890452, PMCID: PMC4990510
Bradbury AM, Bagel JH, Jiang X, Swain GP, Prociuk ML, Fitzgerald CA, O'Donnell PA, Braund KG, Ory DS, Vite CH.
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in
canine globoid cell leukodystrophy (Krabbe's disease). J Neurosci Res. 2016 Nov;94(11):1007-17.
PMID: 27638585, PMCID: PMC5027978
Wei X, Song H, Yin L, Rizzo MG, Sidhu R, Covey DF, Ory DS, Semenkovich CF. Fatty acid synthesis configures the
plasma membrane for inflammation in diabetes. Nature. 2016 Nov 10;539(7628):294-298. Epub 2016
Nov 2. PMID: 27806377
Fineran P, Lloyd-Evans E, Lack NA, Platt N, Davis LC, Morgan AJ, Höglinger D, Tatituri RV, 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. Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C
disease cellular pathway. Wellcome Open Res. 2016 Nov 18;1:18. PMID: 28008422, PMCID: PMC5172425
Walkley SU, Davidson CD, Jacoby J, Marella PD, Ottinger EA, Austin CP, Porter FD, Vite CH, Ory DS. Fostering
collaborative research for rare genetic disease: the example of niemann-pick type C disease. Orphanet J Rare
Dis. 2016 Dec 1;11(1):161. PMID: 27903269, PMCID: PMC5131440
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. Rpl13a small nucleolar RNAs regulate
systemic glucose metabolism. J Clin Invest. 2016 Dec 1;126(12):4616-4625. Epub 2016 Nov 7.
PMID: 27820699, PMCID: PMC5127695
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. Analytical
Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol
Accumulation in Niemann-Pick Disease Type C1 Cells. Assay Drug Dev Technol. 2017 May/Jun;15(4):154-166.
PMID: 28631941
Newberry EP, Xie Y, Kennedy SM, Graham MJ, Crooke RM, Jiang H, Chen A, Ory DS, Davidson NO. Prevention of
hepatic fibrosis with liver microsomal triglyceride transfer protein deletion in liver fatty acid binding protein
null mice. Hepatology. 2017 Mar;65(3):836-852. Epub 2017 Jan 19. PMID: 27862118,
PMCID: PMC5319898
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. Normalization of Hepatic
Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone
Deacetylase Inhibitor Vorinostat. J Biol Chem. 2017 Mar 17;292(11):4395-4410. Epub 2016 Dec 28.
PMID: 28031458, PMCID: PMC537776

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