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

The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation.

MFN2 Q367H 变异揭示了一种与 mtDNA 介导的炎症相关的新的致病机制

Zaman Mashiat, Sharma Govinda, Almutawa Walaa, Soule Tyler Gb, Sabouny Rasha, Joel Matt, Mohan Armaan, Chute Cole, Joseph Jeffrey T, Pfeffer Gerald, Shutt Timothy E

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

患有共济失调、视神经萎缩和神经性听力损失的患者中 MFN2 的 HR1 结构域中新变体的表征

Govinda Sharma, Mashiat Zaman, Rasha Sabouny, Matthew Joel, Kristina Martens, Davide Martino, A P Jason de Koning, Gerald Pfeffer, Timothy E Shutt

A synthetic peptide rescues rat cortical neurons from anesthetic-induced cell death, perturbation of growth and synaptic assembly

合成肽可挽救大鼠皮质神经元免于麻醉引起的细胞死亡、生长和突触组装紊乱

Fahad Iqbal, Marcus Pehar #, Andrew J Thompson #, Urva Azeem #, Kiana Jahanbakhsh #, Nerea Jimenez-Tellez, Rasha Sabouny, Shadab Batool, Atika Syeda, Jennifer Chow, Pranav Machiraju, Timothy Shutt, Kamran Yusuf, Jane Shearer, Tiffany Rice, Naweed I Syed

A new automated tool to quantify nucleoid distribution within mitochondrial networks

一种量化线粒体网络内核苷分布的新型自动化工具

Hema Saranya Ilamathi #, Mathieu Ouellet #, Rasha Sabouny, Justine Desrochers-Goyette, Matthew A Lines, Gerald Pfeffer, Timothy E Shutt, Marc Germain

Perturbed Mitochondrial Dynamics Is a Novel Feature of Colitis That Can Be Targeted to Lessen Disease

线粒体动力学紊乱是结肠炎的一个新特征,可以作为减轻疾病的靶点

Nicole L Mancini, Luke Goudie, Warren Xu, Rasha Sabouny, Sruthi Rajeev, Arthur Wang, Nicolas Esquerre, Ala Al Rajabi, Timothy S Jayme, Erik van Tilburg Bernandes, Yasmin Nasser, José G P Ferraz, Timothy Shutt, Jane Shearer, Derek M McKay

Aberrant Mitochondrial Morphology and Function in the BTBR Mouse Model of Autism Is Improved by Two Weeks of Ketogenic Diet

两周生酮饮食可改善自闭症 BTBR 小鼠模型中异常的线粒体形态和功能

Younghee Ahn, Rasha Sabouny, Bianca R Villa, Nellie C Yee, Richelle Mychasiuk, Golam M Uddin, Jong M Rho, Timothy E Shutt

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

MYH14 中的 R941L 突变会破坏线粒体裂变并与周围神经病变相关

Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi; Care4Rare Canada Consortium; Oksana Suchowersky, Marc Germain, Paul E Mains, Jillian S Parboosingh, Gerald Pfeffer, A Micheil Innes, Timothy E

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

MSTO1 突变导致线粒体 DNA 耗竭,表现为肌营养不良症和小脑受累

S Donkervoort, R Sabouny, P Yun, L Gauquelin, K R Chao, Y Hu, I Al Khatib, A Töpf, P Mohassel, B B Cummings, R Kaur, D Saade, S A Moore, L B Waddell, M A Farrar, J K Goodrich, P Uapinyoying, S H S Chan, A Javed, M E Leach, P Karachunski, J Dalton, L Medne, A Harper, C Thompson, I Thiffault, S Specht

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

PISD 是一种线粒体疾病基因,可导致骨骼发育不良、白内障和白质变化

Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, Rasha Sabouny, Susanne Lingrell, Adam J Cornish, Ryan E Lamont, Francois P Bernier, David Sinasac, Jillian S Parboosingh; Care4Rare Canada Consortium; Jean E Vance, Steven M Claypool, A Micheil Innes, Timothy E Shutt

SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy

SS-31 肽可逆转 DCMA(一种线粒体心肌病)患者成纤维细胞中的线粒体碎片

Pranav Machiraju, Xuemei Wang, Rasha Sabouny, Joshua Huang, Tian Zhao, Fatima Iqbal, Melissa King, Dimple Prasher, Arijit Lodha, Nerea Jimenez-Tellez, Amir Ravandi, Bob Argiropoulos, David Sinasac, Aneal Khan, Timothy E Shutt, Steven C Greenway