Ory Daniel S相关文献与解析，生知库 | 链接生命科学的每一步

Kell, Pamela; Mishra, Sonali; Gray-Edwards, Heather L; Martin, Douglas R; Gaudioso, Angel; Ledesma, María Dolores; Bongarzone, Ernesto R; Sands, Mark S; Sidransky, Ellen; Ory, Daniel S; Jiang, Xuntian

血小板

发表日期：2025

文献求助收藏

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation

先天性糖基化障碍中氧固醇和N-棕榈酰-O-磷酸胆碱丝氨酸水平升高

期刊:Journal of Inherited Metabolic Disease

影响因子:3.8

doi:10.1002/jimd.12595

Dang Do, An N; Chang, Irene J; Jiang, Xutian; Wolfe, Lynne A; Ng, Bobby G; Lam, Christina; Schnur, Rhonda E; Allis, Katrina; Hansikova, Hana; Ondruskova, Nina; O'Connor, Shawn D; Sanchez-Valle, Amarilis; Vollo, Arve; Wang, Raymond Y; Wolfenson, Zoe; Perreault, John; Ory, Daniel S; Freeze, Hudson H; Merritt, J Lawrence; Porter, Forbes D

发表日期：2023

文献求助收藏

Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease

针对克拉伯病的中枢神经系统靶向AAV联合疗法疗效增强，但长期毒性增加

期刊:Molecular Therapy

影响因子:12

doi:10.1016/j.ymthe.2020.12.031

Li, Yedda; Miller, Christopher A; Shea, Lauren K; Jiang, Xuntian; Guzman, Miguel A; Chandler, Randy J; Ramakrishnan, Sai M; Smith, Stephanie N; Venditti, Charles P; Vogler, Carole A; Ory, Daniel S; Ley, Timothy J; Sands, Mark S

IP(3)R-driven increases in mitochondrial Ca(2+) promote neuronal death in NPC disease

IP(3)R驱动的线粒体Ca(2+)增加促进NPC疾病中的神经元死亡

期刊:Proceedings of the National Academy of Sciences of the United States of America

影响因子:9.1

doi:10.1073/pnas.2110629118

Tiscione, Scott A; Casas, Maria; Horvath, Jonathan D; Lam, Vincent; Hino, Keiko; Ory, Daniel S; Santana, L Fernando; Simó, Sergi; Dixon, Rose E; Dickson, Eamonn J

Validation of Trifluoromethylphenyl Diazirine Cholesterol Analogues As Cholesterol Mimetics and Photolabeling Reagents

三氟甲基苯基重氮丙烯胆固醇类似物作为胆固醇模拟物和光标记试剂的验证

期刊:ACS Chemical Biology

影响因子:3.8

doi:10.1021/acschembio.1c00364

Krishnan, Kathiresan; Qian, Mingxing; Feltes, McKenna; Chen, Zi-Wei; Gale, Sarah; Wang, Lei; Sugasawa, Yusuke; Reichert, David E; Schaffer, Jean E; Ory, Daniel S; Evers, Alex S; Covey, Douglas F

代谢

发表日期：2021

文献求助收藏

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)

全外显子组测序和功能表征可提高46,XY性发育差异（DSD）同胞的诊断率。

期刊:Journal of Steroid Biochemistry and Molecular Biology

影响因子:2.5

doi:10.1016/j.jsbmb.2021.105908

Luna, Sofia E; Wegner, Daniel J; Gale, Sarah; Yang, Ping; Hollander, Abby; St Dennis-Feezle, Lori; Nabhan, Zeina M; Ory, Daniel S; Cole, F Sessions; Wambach, Jennifer A

发育与干细胞

发表日期：2021

文献求助收藏

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

一项针对患有尼曼-匹克C1型疾病的婴儿急性肝病的静脉注射2-羟丙基-β-环糊精的1/2期开放标签非随机临床试验

期刊:Molecular Genetics and Metabolism Reports

影响因子:1.9

doi:10.1016/j.ymgmr.2021.100772

Reynolds, Margaret; Linneman, Laura A; Luna, Sofia; Warner, Barbara B; Turmelle, Yumirle P; Kulkarni, Sakil S; Jiang, Xuntian; Khanna, Geetika; Shinawi, Marwan; Porter, Forbes D; Ory, Daniel S; Cole, F Sessions; Dickson, Patricia I

发表日期：2021

文献求助收藏

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.

一种用于治疗泰-萨克斯病和桑德霍夫病的新型基因编辑系统

期刊:Gene Therapy

影响因子:4.5

doi:10.1038/s41434-019-0120-5

Ou Li, Przybilla Michael J, TÄbÄran Alexandru-Flaviu, Overn Paula, O'Sullivan M Gerard, Jiang Xuntian, Sidhu Rohini, Kell Pamela J, Ory Daniel S, Whitley Chester B

发表日期：2020

文献求助收藏

Alterations in plasma triglycerides and ceramides: links with cardiac function in humans with type 2 diabetes

血浆甘油三酯和神经酰胺的变化：与2型糖尿病患者心脏功能的关联

期刊:Journal of Lipid Research

影响因子:4.1

doi:10.1194/jlr.RA120000669

Peterson, Linda R; Jiang, Xuntian; Chen, Ling; Goldberg, Anne C; Farmer, Marsha S; Ory, Daniel S; Schaffer, Jean E

Circulating ceramide ratios and risk of vascular brain aging and dementia

循环神经酰胺比例与血管性脑老化和痴呆风险

期刊:Annals of Clinical and Translational Neurology

影响因子:3.9

doi:10.1002/acn3.50973

McGrath, Emer R; Himali, Jayandra J; Xanthakis, Vanessa; Duncan, Meredith S; Schaffer, Jean E; Ory, Daniel S; Peterson, Linda R; DeCarli, Charles; Pase, Matthew P; Satizabal, Claudia L; Vasan, Ramachandran S; Beiser, Alexa S; Seshadri, Sudha

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases

溶酶体贮积症中溶酶体-血小板激活因子的继发性积累

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation

先天性糖基化障碍中氧固醇和N-棕榈酰-O-磷酸胆碱丝氨酸水平升高

Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease

针对克拉伯病的中枢神经系统靶向AAV联合疗法疗效增强，但长期毒性增加

IP(3)R-driven increases in mitochondrial Ca(2+) promote neuronal death in NPC disease

IP(3)R驱动的线粒体Ca(2+)增加促进NPC疾病中的神经元死亡

Validation of Trifluoromethylphenyl Diazirine Cholesterol Analogues As Cholesterol Mimetics and Photolabeling Reagents

三氟甲基苯基重氮丙烯胆固醇类似物作为胆固醇模拟物和光标记试剂的验证

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)

全外显子组测序和功能表征可提高46,XY性发育差异（DSD）同胞的诊断率。

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

一项针对患有尼曼-匹克C1型疾病的婴儿急性肝病的静脉注射2-羟丙基-β-环糊精的1/2期开放标签非随机临床试验

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.

一种用于治疗泰-萨克斯病和桑德霍夫病的新型基因编辑系统

Alterations in plasma triglycerides and ceramides: links with cardiac function in humans with type 2 diabetes

血浆甘油三酯和神经酰胺的变化：与2型糖尿病患者心脏功能的关联

Circulating ceramide ratios and risk of vascular brain aging and dementia

循环神经酰胺比例与血管性脑老化和痴呆风险