Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.

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作者： Deborah,Grifagni ^[1] ; Davide,Doni ^[2] ; Bianca,Susini ^[1] ; Bruno M,Fonseca ^[3] ; Ricardo O,Louro ^[3] ; Paola,Costantini ^[2] ; Simone,Ciofi-Baffoni ^[1]

作者单位： Magnetic Resonance Center CERM, University of Florence, Florence, Italy.;Department of Chemistry, University of Florence, Florence, Italy. ^[1] Department of Biology, University of Padova, Padova, Italy. ^[2] Instituto de Tecnologia Química e Biológica António Xavier (ITQB-NOVA), Universidade Nova de Lisboa, Oeiras, Portugal. ^[3]

关键词 FDX2 ISC machinery MEOAL NMR P144L iron–sulfur protein rare disease

主题词人类(Humans);铁氧化还原蛋白类(Ferredoxins);铁硫蛋白质类(Iron-Sulfur Proteins);线粒体疾病(Mitochondrial Diseases);模型, 分子(Models, Molecular);突变, 误义(Mutation, Missense);氧化还原(Oxidation-Reduction)

DOI 10.1002/pro.5197

PMID 39467201

发布时间 2024-11-05

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