Dea Gorka

The paper develops isogenic human embryonic stem cell lines modeling Angelman and Prader-Willi syndromes to study allele-specific gene regulation and therapeutic approaches.

This study investigates the role of UBE3A in Dup15q syndrome using CRISPR-corrected patient-derived neurons, showing UBE3A overexpression is necessary for most neuronal deficits but not synaptic phenotypes.

This study shows that antisense oligonucleotides targeting UBE3A-ATS restore UBE3A expression by removing transcriptional interference in Angelman syndrome neurons.

The paper shows that disrupting ZNF274 binding at SNORD116 activates its maternal allele in PWS neurons without altering ZNF274 levels, suggesting a therapeutic strategy for Prader-Willi syndrome.

The paper investigates the abundance and localization of human UBE3A protein isoforms and their impact on Angelman Syndrome phenotypes using CRISPR/Cas9-generated isogenic cells.