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

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

在小鼠中模拟 POLG 突变揭示了 POLγÎ' 在调节表型严重程度中的关键作用

Corrà Samantha, Zuppardo Alessandro, Valenzuela Sebastian, Jenninger Louise, Cerutti Raffaele, Sillamaa Sirelin, Hoberg Emily, Johansson Katarina A S, Rovsnik Urska, Volta Sara, Silva-Pinheiro Pedro, Davis Hannah, Trifunovic Aleksandra, Minczuk Michal, Gustafsson Claes M, Suomalainen Anu, Zeviani Massimo, Macao Bertil, Zhu Xuefeng, Falkenberg Maria, Viscomi Carlo

Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'

更正“损害全酶稳定性的DNA聚合酶γ突变导致催化亚基耗竭”

Silva-Pinheiro, Pedro; Pardo-Hernández, Carlos; Reyes, Aurelio; Tilokani, Lisa; Mishra, Anup; Cerutti, Raffaele; Li, Shuaifeng; Rozsivalova, Dieu-Hien; Valenzuela, Sebastian; Dogan, Sukru A; Peter, Bradley; Fernández-Silva, Patricio; Trifunovic, Aleksandra; Prudent, Julien; Minczuk, Michal; Bindoff, Laurence; Macao, Bertil; Zeviani, Massimo; Falkenberg, Maria; Viscomi, Carlo

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

线粒体肽酶 PITRM1 缺陷与 Aβ 淀粉样变性神经退行性疾病有关

Brunetti Dario, Torsvik Janniche, Dallabona Cristina, Teixeira Pedro, Sztromwasser Pawel, Fernandez-Vizarra Erika, Cerutti Raffaele, Reyes Aurelio, Preziuso Carmela, D'Amati Giulia, Baruffini Enrico, Goffrini Paola, Viscomi Carlo, Ferrero Ileana, Boman Helge, Telstad Wenche, Johansson Stefan, Glaser Elzbieta, Knappskog Per M, Zeviani Massimo, Bindoff Laurence A

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

NAD(+)依赖性Sirt1激活可纠正线粒体疾病小鼠模型的表型

Cerutti, Raffaele; Pirinen, Eija; Lamperti, Costanza; Marchet, Silvia; Sauve, Anthony A; Li, Wei; Leoni, Valerio; Schon, Eric A; Dantzer, Françoise; Auwerx, Johan; Viscomi, Carlo; Zeviani, Massimo

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

通过激活 AMPK/PGC-1α 轴在体内纠正 COX 缺陷

Viscomi, Carlo; Bottani, Emanuela; Civiletto, Gabriele; Cerutti, Raffaele; Moggio, Maurizio; Fagiolari, Gigliola; Schon, Eric A; Lamperti, Costanza; Zeviani, Massimo