The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates

by admin | Sep 2, 2026 | Publications

Krijt, J. et al. (2026) “The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates: consequences of the methylfolate trap,” Nucleosides, Nucleotides & Nucleic Acids, pp. 1–12. Available at:...

Severe adenylosuccinate lyase deficiency with early autonomic dysfunction

by admin | Sep 2, 2026 | Publications

Kravljanac, R. et al. (2026) “Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram,” Molecular Genetics and Metabolism, 149(1), p. 110192. Available at:...

Identification and characterization of genetic factors in hereditary tubulointerstitialkidney diseases

by admin | Sep 2, 2026 | Publications

Kmochová, T. (2026) Identifikace a charakterizace genetických faktorů dědičného tubulointersticiálního onemocnění ledvin (Identification and characterization of genetic factors in hereditary tubulointerstitialkidney diseases). Dissertation thesis. Supervisor: Živná,...

Single-nucleus microglial enrichment from frozen brain tissue

by admin | Sep 2, 2026 | Publications

Dostalova, D., Abaffy, P. and Valihrach, L. (2026) “Single-nucleus microglial enrichment from frozen brain tissue.” Protocol.

Mechanistic modeling of recessive disease through allelic integration of variant effects

by admin | Sep 2, 2026 | Publications

Çubuk, H. et al. (2026) “Mechanistic modeling of recessive disease through allelic integration of variant effects,” Cell Systems, 17(6).