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

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

帕金森病中的 TWNK:运动障碍和线粒体疾病中心视角研究

Percetti, Marco; Franco, Giulia; Monfrini, Edoardo; Caporali, Leonardo; Minardi, Raffaella; La Morgia, Chiara; Valentino, Maria Lucia; Liguori, Rocco; Palmieri, Ilaria; Ottaviani, Donatella; Vizziello, Maria; Ronchi, Dario; Di Berardino, Federica; Cocco, Antoniangela; Macao, Bertil; Falkenberg, Maria; Comi, Giacomo Pietro; Albanese, Alberto; Giometto, Bruno; Valente, Enza Maria; Carelli, Valerio; Di Fonzo, Alessio

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

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

对一名患有常染色体隐性遗传性进行性眼外肌麻痹症(arPEO)的患者进行线粒体DNA深度测序,并鉴定出一种新的POLG基因突变。

Hedberg-Oldfors, Carola; Macao, Bertil; Basu, Swaraj; Lindberg, Christopher; Peter, Bradley; Erdinc, Direnis; Uhler, Jay P; Larsson, Erik; Falkenberg, Maria; Oldfors, Anders

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

由DNA聚合酶γ中的显性p.Y955H致病变异引起的多系统线粒体疾病

Siibak, Triinu; Clemente, Paula; Bratic, Ana; Bruhn, Helene; Kauppila, Timo E S; Macao, Bertil; Schober, Florian A; Lesko, Nicole; Wibom, Rolf; Naess, Karin; Nennesmo, Inger; Wedell, Anna; Peter, Bradley; Freyer, Christoph; Falkenberg, Maria; Wredenberg, Anna

Stabilization of neurotoxic Alzheimer amyloid-beta oligomers by protein engineering

通过蛋白质工程稳定具有神经毒性的阿尔茨海默病β-淀粉样蛋白寡聚体

Sandberg, Anders; Luheshi, Leila M; Söllvander, Sofia; Pereira de Barros, Teresa; Macao, Bertil; Knowles, Tuomas P J; Biverstål, Henrik; Lendel, Christofer; Ekholm-Petterson, Frida; Dubnovitsky, Anatoly; Lannfelt, Lars; Dobson, Christopher M; Härd, Torleif

Recombinant amyloid beta-peptide production by coexpression with an affibody ligand

通过与亲和体配体共表达生产重组淀粉样β肽

Macao, Bertil; Hoyer, Wolfgang; Sandberg, Anders; Brorsson, Ann-Christin; Dobson, Christopher M; Härd, Torleif