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Mitochondrial diseases
Person
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Person
Publication
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RNDr. Daniela Burská Ph.D.
Academic staff at First Faculty of Medicine
7 publications
Publications
publication
Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase
2004 |
First Faculty of Medicine
publication
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2bp microdeletion of TA at positions 9205 and 9206
2004 |
First Faculty of Medicine
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
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
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
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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