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

Parental histone deposition on the replicated strands promotes error-free DNA damage tolerance and regulates drug resistance.

亲代组蛋白沉积在复制链上,促进无错DNA损伤耐受,并调节耐药性

Dolce Valeria, Dusi Sabrina, Giannattasio Michele, Joseph Chinnu Rose, Fumasoni Marco, Branzei Dana

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

COQ4基因突变会导致一系列与辅酶Q10缺乏相关的线粒体疾病。

Brea-Calvo, Gloria; Haack, Tobias B; Karall, Daniela; Ohtake, Akira; Invernizzi, Federica; Carrozzo, Rosalba; Kremer, Laura; Dusi, Sabrina; Fauth, Christine; Scholl-Bürgi, Sabine; Graf, Elisabeth; Ahting, Uwe; Resta, Nicoletta; Laforgia, Nicola; Verrigni, Daniela; Okazaki, Yasushi; Kohda, Masakazu; Martinelli, Diego; Freisinger, Peter; Strom, Tim M; Meitinger, Thomas; Lamperti, Costanza; Lacson, Atilano; Navas, Placido; Mayr, Johannes A; Bertini, Enrico; Murayama, Kei; Zeviani, Massimo; Prokisch, Holger; Ghezzi, Daniele

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

线粒体铁和能量功能障碍可将成纤维细胞和诱导神经元与泛酸激酶相关神经退行性疾病患者区分开来。

Santambrogio, Paolo; Dusi, Sabrina; Guaraldo, Michela; Rotundo, Luisa Ida; Broccoli, Vania; Garavaglia, Barbara; Tiranti, Valeria; Levi, Sonia

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

在酵母中模拟人类辅酶A合成酶突变揭示了线粒体功能、脂质含量和铁代谢的改变

Ceccatelli Berti, Camilla; Dallabona, Cristina; Lazzaretti, Mirca; Dusi, Sabrina; Tosi, Elena; Tiranti, Valeria; Goffrini, Paola

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

泛硫乙胺治疗可有效恢复由生酮饮食诱导的泛酸激酶相关神经退行性疾病小鼠模型的疾病表型。

Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; d'Amati, Giulia; Tiranti, Valeria

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

外显子组测序揭示辅酶A合成酶突变是导致脑铁沉积性神经退行性疾病的原因。

Dusi, Sabrina; Valletta, Lorella; Haack, Tobias B; Tsuchiya, Yugo; Venco, Paola; Pasqualato, Sebastiano; Goffrini, Paola; Tigano, Marco; Demchenko, Nikita; Wieland, Thomas; Schwarzmayr, Thomas; Strom, Tim M; Invernizzi, Federica; Garavaglia, Barbara; Gregory, Allison; Sanford, Lynn; Hamada, Jeffrey; Bettencourt, Conceição; Houlden, Henry; Chiapparini, Luisa; Zorzi, Giovanna; Kurian, Manju A; Nardocci, Nardo; Prokisch, Holger; Hayflick, Susan; Gout, Ivan; Tiranti, Valeria

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

PANK2 基因突变患者线粒体辅酶 A 缺乏的代谢后果

Leoni, Valerio; Strittmatter, Laura; Zorzi, Giovanna; Zibordi, Federica; Dusi, Sabrina; Garavaglia, Barbara; Venco, Paola; Caccia, Claudio; Souza, Amanda L; Deik, Amy; Clish, Clary B; Rimoldi, Marco; Ciusani, Emilio; Bertini, Enrico; Nardocci, Nardo; Mootha, Vamsi K; Tiranti, Valeria