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

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency

一种靶向中枢神经系统的AAV9基因疗法可恢复GAMT缺陷模型中胍基乙酸甲基转移酶的表达和生化功能。

Binsfeld, Robyn; Webster, Troy; Tkachyova, Ilona; Tropak, Michael; Mitchell, Melissa; Peretti, Tesla; Schulze, Andreas; Walia, Jagdeep S

Validation and Optimization of a Stable Isotope-Labeled Substrate Assay for Measuring AGAT Activity

验证和优化用于测量 AGAT 活性的稳定同位素标记底物测定法

Lee, Alex; Anderson, Lucas; Tkachyova, Ilona; Tropak, Michael B; Wang, Dahai; Schulze, Andreas

Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells

证据表明,人HAP1细胞中存在一种细胞内肌酸感知机制,该机制通过AGAT表达调节肌酸生物合成。

Tropak, Michael B; Tkachyova, Ilona; Gu, Ray; Lee, Alex; Schulze, Andreas

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

RABGAP1 的双等位基因功能丧失变异导致了一种新的神经发育综合征

Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Huayun Hou, Kyoko E Yuki, Michael D Wilson, Patrick Rump, Roelineke Lunsing, Noha Elserafy, Clara W T Chung, Stacy Hewson, Tanja Klein-Rodewald, Julia Calzada-Wack, Adrián Sanz-Moreno, Markus Kraiger, Susan Marschall, 

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

新型载体设计和己糖胺酶变体使自互补腺相关病毒能够治疗 Tay-Sachs 病

Subha Karumuthil-Melethil, Sahana Nagabhushan Kalburgi, Patrick Thompson, Michael Tropak, Michael D Kaytor, John G Keimel, Brian L Mark, Don Mahuran, Jagdeep S Walia, Steven J Gray

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

构建能够形成稳定的同型二聚体的混合 β-己糖胺酶亚基,在体内水解 GM2 神经节苷脂

Michael B Tropak, Sayuri Yonekawa, Subha Karumuthil-Melethil, Patrick Thompson, Warren Wakarchuk, Steven J Gray, Jagdeep S Walia, Brian L Mark, Don Mahuran

TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy

TMEM43 基因 p.S358L 突变会改变闰盘蛋白的表达,并降低致心律失常性右室心肌病患者的传导速度。

Siragam, Vinayakumar; Cui, Xuezhi; Masse, Stephane; Ackerley, Cameron; Aafaqi, Shabana; Strandberg, Linn; Tropak, Michael; Fridman, Michael D; Nanthakumar, Kumaraswamy; Liu, Jun; Sun, Yu; Su, Bin; Wang, Caroline; Liu, Xiaoru; Yan, Yuqing; Mendlowitz, Ariel; Hamilton, Robert M

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant

药理学伴侣促进植物细胞中重组N370S突变体β-葡糖脑苷脂酶的内质网后运输:证据表明N370S是一种折叠突变体

Babajani, Gholamreza; Tropak, Michael B; Mahuran, Don J; Kermode, Allison R

Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

对 N-壬基脱氧半乳糖诺吉霉素作为人类 GM1 神经节苷脂沉积症的药理学伴侣进行评估,最终确定了一种适用于测试酶增强疗法的猫科动物模型。

Rigat, Brigitte A; Tropak, Michael B; Buttner, Justin; Crushell, Ellen; Benedict, Daphne; Callahan, John W; Martin, Douglas R; Mahuran, Don J

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

在拟南芥复合聚糖缺陷(cgl)植物种子中产生活性人葡糖脑苷脂酶

He, Xu; Galpin, Jason D; Tropak, Michael B; Mahuran, Don; Haselhorst, Thomas; von Itzstein, Mark; Kolarich, Daniel; Packer, Nicolle H; Miao, Yansong; Jiang, Liwen; Grabowski, Gregory A; Clarke, Lorne A; Kermode, Allison R