Hana Hartmannová

The paper identifies recurrent mtDNA variants, particularly in the LSP2 promoter, as a cause of tubulointerstitial kidney disease in families with maternal inheritance.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

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

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