Author

Jana Sovová

Charles University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:long-read sequencing· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anthony J. BleyeriD· 2 shared Dita MušálkováiD· 2 shared Hana HartmannováiD· 2 shared Helena TrešlováiD· 2 shared Kateřina HodaňováiD· 2 shared Lenka Steiner MrazovaiD· 2 shared Martin RadinaiD· 2 shared Martina ŽivnáiD· 2 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Anthony J. BleyerORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

Alena Vrbacká, Anna Přistoupilová, Kendrah O. Kidd, Václav Janoušek, Martin Radina, Petr Vyleťal, Ibrahim Bitar, Viktor Stránecký, Lenka Steiner Mrazova, Helena Trešlová, Jana Sovová, Kateřina Hodaňová, Hana Hartmannová, Dita Mušálková, Klára Svojšová, , Stanislav Kmoch

This study uses long-read sequencing to characterize MUC1 VNTR variation in ADTKD-MUC1, identifying frameshift mutations and their association with disease progression.

Journal of the American Society of Nephrology · Apr 10, 2026Peer-reviewedGenetics

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyleťal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner Mrazova, Aleš Hnı́zda, , Stanislav Kmoch

This study identifies defective proteostasis of mutated AGAL causing ER stress and UPR in non-classic Fabry disease, independent of lysosomal storage.

bioRxiv · Sep 27, 2022 · PreprintMolecular Biology