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

Author Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

作者更正:人类线粒体DNA拷贝数和异质性的核基因控制

Gupta, Rahul; Kanai, Masahiro; Durham, Timothy J; Tsuo, Kristin; McCoy, Jason G; Kotrys, Anna V; Zhou, Wei; Chinnery, Patrick F; Karczewski, Konrad J; Calvo, Sarah E; Neale, Benjamin M; Mootha, Vamsi K

ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits.

ChREBP 在还原应激下被激活,并介导 GCKR 相关的代谢特征

Singh Charandeep, Jin Byungchang, Shrestha Nirajan, Markhard Andrew L, Panda Apekshya, Calvo Sarah E, Deik Amy, Pan Xingxiu, Zuckerman Austin L, Ben Saad Amel, Corey Kathleen E, Sjoquist Julia, Osganian Stephanie, AminiTabrizi Roya, Rhee Eugene P, Shah Hardik, Goldberger Olga, Mullen Alan C, Cracan Valentin, Clish Clary B, Mootha Vamsi K, Goodman Russell P

Mitochondrial genome copy number variation across tissues in mice and humans

小鼠和人类不同组织中线粒体基因组拷贝数变异

Rath, Sneha P; Gupta, Rahul; Todres, Ellen; Wang, Hong; Jourdain, Alexis A; Ardlie, Kristin G; Calvo, Sarah E; Mootha, Vamsi K

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations

MitoCarta3.0:更新后的线粒体蛋白质组,现在包含亚细胞器定位和通路注释

Rath, Sneha; Sharma, Rohit; Gupta, Rahul; Ast, Tslil; Chan, Connie; Durham, Timothy J; Goodman, Russell P; Grabarek, Zenon; Haas, Mary E; Hung, Wendy H W; Joshi, Pallavi R; Jourdain, Alexis A; Kim, Sharon H; Kotrys, Anna V; Lam, Stephanie S; McCoy, Jason G; Meisel, Joshua D; Miranda, Maria; Panda, Apekshya; Patgiri, Anupam; Rogers, Robert; Sadre, Shayan; Shah, Hardik; Skinner, Owen S; To, Tsz-Leung; Walker, Melissa A; Wang, Hong; Ward, Patrick S; Wengrod, Jordan; Yuan, Chen-Ching; Calvo, Sarah E; Mootha, Vamsi K

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

一名患者携带两个莱氏综合征致病基因的纯合无义突变:如何区分双重诊断与功能减弱型蛋白截短突变

Lake, Nicole J; Formosa, Luke E; Stroud, David A; Ryan, Michael T; Calvo, Sarah E; Mootha, Vamsi K; Morar, Bharti; Procopis, Peter G; Christodoulou, John; Compton, Alison G; Thorburn, David R

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

MRPS34基因的双等位基因突变导致线粒体核糖体小亚基不稳定和莱氏综合征

Lake, Nicole J; Webb, Bryn D; Stroud, David A; Richman, Tara R; Ruzzenente, Benedetta; Compton, Alison G; Mountford, Hayley S; Pulman, Juliette; Zangarelli, Coralie; Rio, Marlene; Boddaert, Nathalie; Assouline, Zahra; Sherpa, Mingma D; Schadt, Eric E; Houten, Sander M; Byrnes, James; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Haude, Katrina; Zhang, Zhancheng; Retterer, Kyle; Bai, Renkui; Calvo, Sarah E; Mootha, Vamsi K; Christodoulou, John; Rötig, Agnes; Filipovska, Aleksandra; Cristian, Ingrid; Falk, Marni J; Metodiev, Metodi D; Thorburn, David R

Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism

肝脏NADH和NADPH代谢的时空区室化

Goodman, Russell P; Calvo, Sarah E; Mootha, Vamsi K

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

FOXRED1 编码一种 FAD 依赖性氧化还原酶复合物 I 特异性分子伴侣,其突变与婴儿期发病的线粒体脑病有关。

Fassone, Elisa; Duncan, Andrew J; Taanman, Jan-Willem; Pagnamenta, Alistair T; Sadowski, Michael I; Holand, Tatjana; Qasim, Waseem; Rutland, Paul; Calvo, Sarah E; Mootha, Vamsi K; Bitner-Glindzicz, Maria; Rahman, Shamima

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

在患有常染色体显性遗传线粒体肌病的家族中,发现一种新型核编码线粒体蛋白 CHCHD10 发生突变。

Ajroud-Driss, Senda; Fecto, Faisal; Ajroud, Kaouther; Lalani, Irfan; Calvo, Sarah E; Mootha, Vamsi K; Deng, Han-Xiang; Siddique, Nailah; Tahmoush, Albert J; Heiman-Patterson, Terry D; Siddique, Teepu

Expansion of biological pathways based on evolutionary inference

基于进化推断的生物通路扩展

Li, Yang; Calvo, Sarah E; Gutman, Roee; Liu, Jun S; Mootha, Vamsi K