基本信息
浏览量:102
职业迁徙
个人简介
I have been working on mitochondrial diseases, particularly coenzyme Q10 deficiencies, for 15 years. I identified the first molecular defect of CoQ10 biosynthesis, the first molecular defect associated with secondary CoQ10 deficiency, and I studied the pathomechanisms of CoQ10 deficiencies in mammalian cells and animal models. My group was among the firsts to unveil the role of H2S oxidation impairment in the pathogenesis of CoQ deficiency.
Honors & Awards
• MDA 4621 (Development Grant)
Identifying the molecular genetic bases of human coenzyme Q10 deficiency
• Telethon GFP03009 (Fellowship for Italian Scientists Abroad)
Identifying the molecular genetic basis of human coenzyme Q deficiency, a treatable cause of hereditary ataxia
• Cystic Fibrosis Center of Verona (Italy) Fellowship for Research
Analysis of the molecular basis for cystic fibrosis phenotype variability among patients carrying the 3849+10 KbC/T, 2789+5G/A and 711+5G/A splicing mutations
Honors & Awards
• MDA 4621 (Development Grant)
Identifying the molecular genetic bases of human coenzyme Q10 deficiency
• Telethon GFP03009 (Fellowship for Italian Scientists Abroad)
Identifying the molecular genetic basis of human coenzyme Q deficiency, a treatable cause of hereditary ataxia
• Cystic Fibrosis Center of Verona (Italy) Fellowship for Research
Analysis of the molecular basis for cystic fibrosis phenotype variability among patients carrying the 3849+10 KbC/T, 2789+5G/A and 711+5G/A splicing mutations
研究兴趣
论文共 134 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Alba Pesini, Giacomo Monzio-Compagnoni,Eliana Barriocanal-Casado,Agustin Hidalgo-Gutierrez,Giulio Kleiner, Giussepe A. Yanez, Mohamed Bakkali,Edoardo Monfrini,Yashpal S. Chhonker,Saba Tadesse,Delfina Larrea,Daryl J. Murry,
NEUROLOGYno. 17 (2023)
引用0浏览0引用
0
0
JOURNAL OF ADVANCED RESEARCH (2021): 79-84
Neuro-Oncology Advancesno. Supplement_1 (2021)
Mitochondrial Diseasespp.273-305, (2021)
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn