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Protein sorting
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The role of palmitoylation and transmembrane domain in sorting of transmembrane adaptor proteins
2016 |
Central Library of Charles University
publication
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia
2021 |
First Faculty of Medicine
publication
Evolutionary Conserved Cysteines Function as cis-Acting Regulators of Arabidopsis PIN-FORMED 2 Distribution
2017 |
Central Library of Charles University, Faculty of Science
publication
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
First Faculty of Medicine
publication
SWIP mediates retromer-independent membrane recruitment of the WASH complex
2023 |
Faculty of Science
publication
Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
2020 |
First Faculty of Medicine
publication
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
2020 |
First Faculty of Medicine