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nitisinone
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RNDr. Mgr. Lukáš Stibůrek Ph.D.
Academic staff at First Faculty of Medicine
30 publications
Publications
publication
Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control
2021 |
First Faculty of Medicine, Faculty of Science, Second Faculty of Medicine
publication
Stable COX17 Downregulation Leads to Alterations in Mitochondrial Ultrastructure, Decreased Copper Content and Impaired Cytochrome c Oxidase Biogenesis in HEK293 Cells
2019 |
First Faculty of Medicine
publication
Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis
2018 |
First Faculty of Medicine
publication
The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits
2016 |
First Faculty of Medicine
publication
LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis
2016 |
First Faculty of Medicine
publication
YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation
2012 |
First Faculty of Medicine
publication
Assembly factors and ATP- dependent proteases in cytochrome c oxidase biogenesis
2010 |
First Faculty of Medicine
publication
Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b
2010 |
First Faculty of Medicine
publication
Loss of function of Sco1 and its interaction with cytochrome c oxidase
2009 |
First Faculty of Medicine
publication
The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues
2008 |
First Faculty of Medicine
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