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

Mutations in mitochondrial ferredoxin FDX2 suppress frataxin deficiency.

线粒体铁氧还蛋白 FDX2 的突变可抑制弗拉塔辛缺乏症。

Meisel Joshua D, Joshi Pallavi R, Spelbring Amy N, Wang Hong, Wellner Sandra M, Wiesenthal Presli P, Miranda Maria, McCoy Jason G, Barondeau David P, Ruvkun Gary, Mootha Vamsi K

Longitudinal Study of TCF4 CTG Trinucleotide Repeat Length and Disease Severity in Fuchs' Endothelial Corneal Dystrophy

TCF4 CTG三核苷酸重复序列长度与Fuchs内皮角膜营养不良疾病严重程度的纵向研究

Teo, Jasmin X J; Neo, Dawn J H; Choo, Jessica Q H; Gong, Xin; Li, Zheng; Htoon, Hla Myint; Chua, Min Jie; Soh, Yu Qiang; Mootha, V Vinod; Khor, Chiea Chuen; Mehta, Jodhbir S

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity

4,5-二羟基己酸是线粒体疾病及其严重程度的可靠循环和尿液标志物。

Skinner, Owen S; Miranda, Maria; Dong, Fangcong; Struhl, Tessa; Walker, Melissa A; Schleifer, Grigorij; Henke, Matthew T; Clardy, Jon; Hirano, Michio; De Vivo, Darryl C; Schon, Eric A; Engelstad, Kristin; Siegmund, Stephanie E; Laprise, Catherine; Des Rosiers, Christine; Mootha, Vamsi K; Sharma, Rohit

Hypoxia ameliorates neurodegeneration and movement disorder in a mouse model of Parkinson's disease.

缺氧可改善帕金森病小鼠模型中的神经退行性变和运动障碍

Marutani Eizo, Miranda Maria, Durham Timothy J, Kim Sharon H, Russell Dreson L, Wiesenthal Presli P, Lichtenegger Paul, Menard Marissa A, Brzozowski Charlotte F, Li Haobo, Ruvkun Gary, Meisel Joshua D, Volpicelli-Daley Laura, Mootha Vamsi K, Ichinose Fumito

Hypoxia as a medicine

缺氧作为一种药物

Rogers, Robert S; Mootha, Vamsi K

Multiomic analysis reveals a key BCAT1 role in mTOR activation by B cell receptor and TLR9

多组学分析揭示了BCAT1在B细胞受体和TLR9激活mTOR中的关键作用

Guo, Rui; Sun, Yizhe; Lim, Matthew Y; Shah, Hardik; Paulo, Joao A; Ahmed, Rahaman A; Li, Weixing; Zhang, Yuchen; Yang, Haopeng; Wang, Liang Wei; Strebinger, Daniel; Smith, Nicholas A; Li, Meng; Leong, Merrin Man Long; Lutchenkov, Michael; Liang, Jin Hua; Li, Zhixuan; Wang, Yin; Puri, Rishi; Melnick, Ari; Green, Michael R; Asara, John M; Papathanassiu, Adonia E; Wesemann, Duane R; Gygi, Steven P; Mootha, Vamsi K; Gewurz, Benjamin E

Modulation of TTR gene expression in the eye using modified siRNAs

利用修饰的siRNA调控眼部TTR基因表达

Hu, Jiaxin; Gong, Xin; Kundu, Jayanta; Datta, Dhrubajyoti; Egli, Martin; Manoharan, Muthiah; Mootha, V Vinod; Corey, David R

Insulin Sensitivity and Insulin Secretion in Adults With Friedreich's Ataxia: The Role of Skeletal Muscle

弗里德赖希共济失调成人患者的胰岛素敏感性和胰岛素分泌:骨骼肌的作用

Tamaroff, Jaclyn; Nguyen, Sara; Wilson, Neil E; Stefanovski, Darko; Xiao, Rui; Scattergood, Theresa; Capiola, Christopher; Schur, Gayatri Maria; Dunn, Julia; Dedio, Anna; Wade, Kristin; Shah, Hardik; Sharma, Rohit; Mootha, Vamsi K; Kelly, Andrea; Lin, Kimberly Y; Lynch, David R; Reddy, Ravinder; Rickels, Michael R; McCormack, Shana E

Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations

美国和全球人群中与 Fuchs 内皮角膜营养不良相关的转录因子 4 基因三核苷酸重复扩增的患病率

Zhang, Xunzhi; Kumar, Ashwani; Gong, Xin; Xing, Chao; Mootha, V Vinod

Assessment of Early Fuchs Endothelial Corneal Dystrophy and CTG Trinucleotide Expansion Positivity Using Scheimpflug Imaging

利用 Scheimpflug 成像技术评估早期 Fuchs 内皮角膜营养不良和 CTG 三核苷酸扩增阳性

Poh, Stanley S J; Tey, Kai Yuan; Peh, Gary S L; Neo, Dawn J H; Htoon, Hla Myint; Lee, Evan K L; Soh, Yu Qiang; Mootha, V Vinod; Mehta, Jodhbir S