Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures.
Ronald A M BuijsenMichel HuMaria Sáez-GonzálezSofia NotopoulouEleni MinaWinette KoningSarah L GardinerLinda M van der GraafElena DaoutsaliBarry A PepersHailiang MeiVera van DisJean-Philippe FrimatArn M J M van den MaagdenbergSpyros PetrakisWilleke M C van Roon-MomPublished in: Movement disorders : official journal of the Movement Disorder Society (2023)
Patient-derived cells recapitulate key pathological features of SCA1 pathogenesis providing a valuable tool for the identification of novel disease-specific processes. This model can be used for high throughput screenings to identify compounds, which may prevent or rescue neurodegeneration in this devastating disease. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.