Daniel S Ory
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Explore the profile of Daniel S Ory including associated specialties, affiliations and a list of published articles.
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148
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7165
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Recent Articles
11.
Sletten A, Davidson J, Yagabasan B, Moores S, Schwaiger-Haber M, Fujiwara H, et al.
Nat Commun
. 2021 Sep;
12(1):5214.
PMID: 34471131
Dyslipidemia and resulting lipotoxicity are pathologic signatures of metabolic syndrome and type 2 diabetes. Excess lipid causes cell dysfunction and induces cell death through pleiotropic mechanisms that link to oxidative...
12.
Davidson C, Gibson A, Gu T, Baxter L, Deverman B, Beadle K, et al.
Life Sci Alliance
. 2021 Aug;
4(10).
PMID: 34407999
Niemann-Pick C1 disease (NPC1) is a rare, fatal neurodegenerative disease caused by mutations in , which encodes the lysosomal cholesterol transport protein NPC1. Disease pathology involves lysosomal accumulation of cholesterol...
13.
Krishnan K, Qian M, Feltes M, Chen Z, Gale S, Wang L, et al.
ACS Chem Biol
. 2021 Aug;
16(8):1493-1507.
PMID: 34355883
Aliphatic diazirine analogues of cholesterol have been used previously to elaborate the cholesterol proteome and identify cholesterol binding sites on proteins. Cholesterol analogues containing the trifluoromethylphenyl diazirine (TPD) group have...
14.
Reynolds M, Linneman L, Luna S, Warner B, Turmelle Y, Kulkarni S, et al.
Mol Genet Metab Rep
. 2021 Jun;
28:100772.
PMID: 34113546
Introduction: Niemann-Pick C (NPC) is an autosomal recessive disease due to defective NPC1 or NPC2 proteins resulting in -lysosomal storage of unesterified cholesterol in the central nervous system and liver....
15.
Kutchukian C, Vivas O, Casas M, Jones J, Tiscione S, Simo S, et al.
EMBO J
. 2021 May;
40(13):e105990.
PMID: 34019311
Cholesterol and phosphoinositides (PI) are two critically important lipids that are found in cellular membranes and dysregulated in many disorders. Therefore, uncovering molecular pathways connecting these essential lipids may offer...
16.
Luna S, Wegner D, Gale S, Yang P, Hollander A, St Dennis-Feezle L, et al.
J Steroid Biochem Mol Biol
. 2021 May;
212:105908.
PMID: 33984517
Pathogenic biallelic variants in HSD17B3 result in 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency, variable disruption of testosterone production, and phenotypic diversity among 46, XY individuals with differences of sexual development (DSDs)....
17.
Moldavski O, Zushin P, Berdan C, van Eijkeren R, Jiang X, Qian M, et al.
J Lipid Res
. 2021 Feb;
62:100051.
PMID: 33631213
Oxysterols are oxidized derivatives of cholesterol that play regulatory roles in lipid biosynthesis and homeostasis. How oxysterol signaling coordinates different lipid classes such as sterols and triglycerides remains incompletely understood....
18.
Li Y, Miller C, Shea L, Jiang X, Guzman M, Chandler R, et al.
Mol Ther
. 2021 Jan;
29(2):691-701.
PMID: 33388420
Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a demyelinating disease caused by the deficiency of the lysosomal enzyme galactosylceramidase (GALC) and the progressive accumulation of the toxic metabolite psychosine....
19.
Xiao X, Kim Y, Romartinez-Alonso B, Sirvydis K, Ory D, Schwabe J, et al.
Proc Natl Acad Sci U S A
. 2020 Dec;
118(2).
PMID: 33376205
The Aster proteins (encoded by the genes) contain a ligand-binding fold structurally similar to a START domain and mediate nonvesicular plasma membrane (PM) to endoplasmic reticulum (ER) cholesterol transport. In...
20.
Sidhu R, Kell P, Dietzen D, Farhat N, Dang Do A, Porter F, et al.
Mol Genet Metab
. 2020 Dec;
131(4):405-417.
PMID: 33257258
Niemann-Pick disease type C (NPC) is a neurodegenerative disease in which mutation of NPC1 or NPC2 gene leads to lysosomal accumulation of unesterified cholesterol and sphingolipids. Diagnosis of NPC disease...