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

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

TOP3A 的病理变异导致线粒体和核基因组稳定性明显紊乱

Direnis Erdinc #, Alejandro Rodríguez-Luis #, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous; Genomics England Research Consortium; Joanna Poulton, Hector Garcia-Moreno, Paola Giunti, Carlo

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

致病性 SLC25A26 变异会损害 SAH 运输活性,从而导致线粒体疾病

Florian A Schober, Jia Xin Tang, Kate Sergeant, Marco F Moedas, Charlotte M Zierz, David Moore, Conrad Smith, David Lewis, Nishan Guha, Sila Hopton, Gavin Falkous, Amanda Lam, Angela Pyle, Joanna Poulton, Gráinne S Gorman, Robert W Taylor, Christoph Freyer, Anna Wredenberg