日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies

突变诱导的神经元和人源化小鼠能够识别尼曼匹克 C1 型蛋白质抑制剂疗法

Ruth D Azaria, Adele B Correia, Kylie J Schache, Manuela Zapata, Koralege C Pathmasiri, Varshasnata Mohanty, Dharma T Nannapaneni, Brandon L Ashfeld, Paul Helquist, Olaf Wiest, Kenji Ohgane, Qingqing Li, Ross A Fredenburg, Brian Sj Blagg, Stephanie M Cologna, Mark L Schultz, Andrew P Lieberman

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease

NPC1 蛋白运输的物种特异性差异决定了尼曼匹克 C 型疾病的治疗反应

Mark L Schultz, Kylie J Schache, Ruth D Azaria, Esmée Q Kuiper, Steven Erwood, Evgueni A Ivakine, Nicole Y Farhat, Forbes D Porter, Koralege C Pathmasiri, Stephanie M Cologna, Michael D Uhler, Andrew P Lieberman

Loss of POGZ alters neural differentiation of human embryonic stem cells

POGZ 的缺失会改变人类胚胎干细胞的神经分化

Lu Deng, Sandra P Mojica-Perez, Ruth D Azaria, Mark Schultz, Jack M Parent, Wei Niu

Adipocyte-Specific Deletion of Lamin A/C Largely Models Human Familial Partial Lipodystrophy Type 2

脂肪细胞特异性层蛋白 A/C 缺失在很大程度上模拟了人类家族性部分脂肪营养障碍 2 型

Callie A S Corsa, Carolyn M Walsh, Devika P Bagchi, Maria C Foss Freitas, Ziru Li, Julie Hardij, Katrina Granger, Hiroyuki Mori, Rebecca L Schill, Kenneth T Lewis, Jessica N Maung, Ruth D Azaria, Amy E Rothberg, Elif A Oral, Ormond A MacDougald

Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage

用脂质LBPA富集NPC1缺陷细胞可刺激自噬,改善溶酶体功能,并减少胆固醇储存

Olga Ilnytska,Kimberly Lai,Kirill Gorshkov,Mark L Schultz,Bruce Nguyen Tran,Maciej Jeziorek,Thaddeus J Kunkel,Ruth D Azaria,Hayley S McLoughlin,Miriam Waghalter,Yang Xu,Michael Schlame,Nihal Altan-Bonnet,Wei Zheng,Andrew P Lieberman,Radek Dobrowolski,Judith Storch

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases

合成高密度脂蛋白纳米颗粒用于治疗尼曼匹克病

Mark L Schultz, Maria V Fawaz, Ruth D Azaria, Todd C Hollon, Elaine A Liu, Thaddeus J Kunkel, Troy A Halseth, Kelsey L Krus, Ran Ming, Emily E Morin, Hayley S McLoughlin, David D Bushart, Henry L Paulson, Vikram G Shakkottai, Daniel A Orringer, Anna S Schwendeman, Andrew P Lieberman