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modifier gene
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Ing. Aleš Hnízda Ph.D.
Academic staff at First Faculty of Medicine
11 publications
Publications
publication
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
2023 |
First Faculty of Medicine
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
2015 |
First Faculty of Medicine
publication
Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis
2013 |
First Faculty of Medicine
publication
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
2012 |
First Faculty of Medicine
publication
Conformational Properties of Nine Purified Cystathionine beta-Synthase Mutants
2012 |
First Faculty of Medicine
publication
Novel structural arrangement of nematode cystathionine beta-synthases: characterization of Caenorhabditis elegans CBS-1
2012 |
First Faculty of Medicine
publication
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
2011 |
First Faculty of Medicine
publication
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency
2011 |
First Faculty of Medicine
publication
Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine beta-Synthase: Study by Differential Covalent Labeling and Computational Modeling
2010 |
First Faculty of Medicine
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