Předměty
Publikace
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | 1. lékařská fakulta
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | 1. lékařská fakulta
- Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging2015 | 1. lékařská fakulta
- Simultaneous reduction of all ORMDL proteins decreases the threshold of mast cell activation2023 | 1. lékařská fakulta, Ústřední knihovna
- Lipidomic profiling of human serum enables detection of pancreatic cancer2022 | 1. lékařská fakulta, 3. lékařská fakulta
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency2022 | 1. lékařská fakulta, Ústřední knihovna
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | 1. lékařská fakulta, 3. lékařská fakulta
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | 1. lékařská fakulta
- Crosstalk between ORMDL3, serine palmitoyltransferase, and 5-lipoxygenase in the sphingolipid and eicosanoid metabolic pathways2021 | 1. lékařská fakulta, 2. lékařská fakulta
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