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CAN genes
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Mgr. Marie Vanišová Ph.D.
Academic staff at First Faculty of Medicine
17 publications
Publications
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
First Faculty of Medicine
publication
Mitochondrial Dysfunction in a High Intraocular Pressure-Induced Retinal Ischemia Minipig Model
2022 |
First Faculty of Medicine, Faculty of Science
publication
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease
2022 |
First Faculty of Medicine
publication
Increased nuclear DNA damage precedes mitochondrial dysfunction in peripheral blood mononuclear cells from Huntington's disease patients
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
Buccal epithelial cells as potential non-invasive materials for the monitoring of mitochondrial disturbances to track Huntington's disease progression : a pilot study
2015 |
First Faculty of Medicine
publication
Acyl-CoA binding domain containing 3 (ACBD3) protein in Huntington's disease human skin fibroblasts
2015 |
First Faculty of Medicine
publication
Non-invasive screening of cytochrome c Oxidase Deficiency in Children Using a Dipstick Immunocapture Assay
2014 |
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
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells
2021 |
First Faculty of Medicine
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