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

Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease

葡萄糖、烟酸和N-乙酰半胱氨酸联合疗法在秀丽隐杆线虫和斑马鱼线粒体复合物I疾病的临床前模型中具有协同作用。

Guha, Sujay; Mathew, Neal D; Konkwo, Chigoziri; Ostrovsky, Julian; Kwon, Young Joon; Polyak, Erzsebet; Seiler, Christoph; Bennett, Michael; Xiao, Rui; Zhang, Zhe; Nakamaru-Ogiso, Eiko; Falk, Marni J

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism

秀丽隐杆线虫中丙酰辅酶A羧化酶pcca-1和pccb-1基因的缺失会全面损害线粒体能量代谢。

Chapman, Kimberly A; Ostrovsky, Julian; Rao, Meera; Dingley, Stephen D; Polyak, Erzsebet; Yudkoff, Marc; Xiao, Rui; Bennett, Michael J; Falk, Marni J

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans

利用稳定同位素进行体内代谢通量分析,可以区分线粒体功能障碍的位点并量化其对秀丽隐杆线虫的影响。

Vergano, Samantha Schrier; Rao, Meera; McCormack, Shana; Ostrovsky, Julian; Clarke, Colleen; Preston, Judith; Bennett, Michael J; Yudkoff, Marc; Xiao, Rui; Falk, Marni J

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

编码线粒体蛋白的FBXL4基因突变会导致早发性线粒体脑肌病。

Gai, Xiaowu; Ghezzi, Daniele; Johnson, Mark A; Biagosch, Caroline A; Shamseldin, Hanan E; Haack, Tobias B; Reyes, Aurelio; Tsukikawa, Mai; Sheldon, Claire A; Srinivasan, Satish; Gorza, Matteo; Kremer, Laura S; Wieland, Thomas; Strom, Tim M; Polyak, Erzsebet; Place, Emily; Consugar, Mark; Ostrovsky, Julian; Vidoni, Sara; Robinson, Alan J; Wong, Lee-Jun; Sondheimer, Neal; Salih, Mustafa A; Al-Jishi, Emtethal; Raab, Christopher P; Bean, Charles; Furlan, Francesca; Parini, Rossella; Lamperti, Costanza; Mayr, Johannes A; Konstantopoulou, Vassiliki; Huemer, Martina; Pierce, Eric A; Meitinger, Thomas; Freisinger, Peter; Sperl, Wolfgang; Prokisch, Holger; Alkuraya, Fowzan S; Falk, Marni J; Zeviani, Massimo

NMNAT1 mutations cause Leber congenital amaurosis.

NMNAT1基因突变会导致莱伯氏先天性黑蒙症

Falk Marni J, Zhang Qi, Nakamaru-Ogiso Eiko, Kannabiran Chitra, Fonseca-Kelly Zoe, Chakarova Christina, Audo Isabelle, Mackay Donna S, Zeitz Christina, Borman Arundhati Dev, Staniszewska Magdalena, Shukla Rachna, Palavalli Lakshmi, Mohand-Said Saddek, Waseem Naushin H, Jalali Subhadra, Perin Juan C, Place Emily, Ostrovsky Julian, Xiao Rui, Bhattacharya Shomi S, Consugar Mark, Webster Andrew R, Sahel José-Alain, Moore Anthony T, Berson Eliot L, Liu Qin, Gai Xiaowu, Pierce Eric A

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice

普罗布考可改善 Pdss2 突变小鼠原发性辅酶Q缺乏症引起的肾脏和代谢后遗症

Falk, Marni J; Polyak, Erzsebet; Zhang, Zhe; Peng, Min; King, Rhonda; Maltzman, Jonathan S; Okwuego, Ezinne; Horyn, Oksana; Nakamaru-Ogiso, Eiko; Ostrovsky, Julian; Xie, Letian X; Chen, Jia Yan; Marbois, Beth; Nissim, Itzhak; Clarke, Catherine F; Gasser, David L