Agnieszka Fiszer

This study generates an isogenic iPSC panel to investigate ATN1's role in human development and disease, revealing proliferation deficits and toxic gain-of-function effects in mutant ATN1 lines.

The paper identifies RNAs with CAG repeats, including circRNAs with mutant tracts, in polyglutamine disease patients.

This study identifies transcriptional deregulation in Huntington's disease by comparing HD and HTT-knockout cells, showing that loss of HTT function drives early transcriptional changes.

This study investigates RAN translation of expanded CAG repeats in SCA3, showing that polyQ and polyA RAN proteins contribute to nuclear damage and apoptosis.