Марек Напиерала

SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal model

This study shows that SynTEF1 restores FGF14 expression and neuronal function in SCA27B patient-derived neurons.

Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model

This study uses iPSCs from FRDA patients to model cardiac dysfunction, finding transcriptional dysregulation and phenotypes like increased cell size and mitochondrial stress.

Anti-gene oligonucleotides targeting Friedreichs ataxia expanded GAA:TTC repeats increase Frataxin expression

This study shows that anti-gene oligonucleotides targeting GAA*TTC repeats in Friedreichs ataxia increase FXN expression in patient cells.

Somatic instability of the FGF14-SCA27B GAA·TTC repeat reveals a marked expansion bias in the cerebellum

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

Comparative multi-omics analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

The paper compares multi-omics data from three mouse models of partial frataxin deficiency to assess mitochondrial stress in the heart, finding mild transcriptional changes despite severe FXN reduction.

Linking Dynamic DNA Secondary Structures to Genome Instability

The paper identifies dynamic DNA secondary structures in vivo that contribute to genome instability by analyzing ssDNA converted to DSBs using S1-END-seq.