ℹ️
🇬🇧
Search
Search for people relevant for "cellular oxidative stress"
cellular oxidative stress
Person
Class
Person
Publication
Programmes
Export current view
RNDr. Nina Ondrušková Ph.D.
Academic staff at First Faculty of Medicine
19 publications
Publications
publication
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation
2020 |
First Faculty of Medicine
publication
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation
2023 |
First Faculty of Medicine
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
First Faculty of Medicine
publication
Congenital disorders of glycosylation: Still "hot" in 2020
2021 |
First Faculty of Medicine
publication
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
2021 |
First Faculty of Medicine
publication
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
First Faculty of Medicine
publication
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
2019 |
First Faculty of Medicine
publication
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX
2018 |
First Faculty of Medicine
publication
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
2018 |
First Faculty of Medicine
publication
Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients
2018 |
First Faculty of Medicine
Load more publications (9)
Loading network view...