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

TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins

TRNT-1 缺乏与 tRNA 完整性丧失和不同蛋白质失衡有关

Thet Fatica, Turaya Naas, Urszula Liwak, Hannah Slaa, Maryam Souaid, Brianna Frangione, Ribal Kattini, Antoine Gaudreau-Lapierre, Laura Trinkle-Mulcahy, Pranesh Chakraborty, Martin Holcik

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

一种与新生儿复合体V缺陷相关的复发性新生ATP5F1A基因替换

Lines, Matthew A; Cuillerier, Alexanne; Chakraborty, Pranesh; Naas, Turaya; Duque Lasio, M Laura; Michaud, Jean; Pileggi, Chantal; Harper, Mary-Ellen; Burelle, Yan; Toler, Tomi L; Sondheimer, Neal; Crawford, Heather P; Millan, Francisca; Geraghty, Michael T

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

DNM1L 相关线粒体裂变缺陷表现为难治性癫痫

Jason R Vanstone, Amanda M Smith, Skye McBride, Turaya Naas, Martin Holcik, Ghadi Antoun, Mary-Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tetreault; Care4Rare Consortium; Jacek Majewski, Stephen Baird, Kym M Boycott, David A Dyment, Alex MacKenzie, Matthew A Lines

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts

CCA 添加酶 TRNT1 活性受损会影响 SIFD 患者来源的成纤维细胞中的 OXPHOS 复合物和细胞呼吸

Urszula Liwak-Muir, Hapsatou Mamady, Turaya Naas, Quinlan Wylie, Skye McBride, Matthew Lines, Jean Michaud, Stephen D Baird, Pranesh K Chakraborty, Martin Holcik

Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion

FBXL4相关脑肌病线粒体DNA耗竭的详细生化和生物能量学特征

Antoun, Ghadi; McBride, Skye; Vanstone, Jason R; Naas, Turaya; Michaud, Jean; Redpath, Stephanie; McMillan, Hugh J; Brophy, Jason; Daoud, Hussein; Chakraborty, Pranesh; Dyment, David; Holcik, Martin; Harper, Mary-Ellen; Lines, Matthew A

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

TRNT1 基因突变会导致先天性铁粒幼细胞性贫血伴免疫缺陷、发热和发育迟缓(SIFD)。

Chakraborty, Pranesh K; Schmitz-Abe, Klaus; Kennedy, Erin K; Mamady, Hapsatou; Naas, Turaya; Durie, Danielle; Campagna, Dean R; Lau, Ashley; Sendamarai, Anoop K; Wiseman, Daniel H; May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M; Giardina, Patricia-Jane; Klaassen, Robert J; Kannengiesser, Caroline; Thuret, Isabelle; Thompson, Alexis A; Marques, Laura; Hughes, Stephen; Bonney, Denise K; Bottomley, Sylvia S; Wynn, Robert F; Laxer, Ronald M; Minniti, Caterina P; Moppett, John; Bordon, Victoria; Geraghty, Michael; Joyce, Paul B M; Markianos, Kyriacos; Rudner, Adam D; Holcik, Martin; Fleming, Mark D

Adoptive transfer of splenocytes to study cell-mediated immune responses in hepatitis C infection using HCV transgenic mice

利用HCV转基因小鼠进行脾细胞过继转移,研究丙型肝炎病毒感染中的细胞介导免疫反应

Naas, Turaya; Ghorbani, Masoud; Soare, Catalina; Scherling, Nicole; Muller, Rudy; Ghorbani, Peyman; Diaz-Mitoma, Francisco