Monday, September 1, 2025

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

Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model. Jarmon G. Lees, Haoxiang Zhang, Lebei Jiao, Anne M Kong, Ren Jie Phang, Li Li, Nan Su, Anthony S. Mukhtar, Alice Pébay, Mirella Dottori, Louise Corben, Martin Delatycki, Roger Peverill, Stephen Wilcox, Jarny Choi, Jeffrey M. Pullin, Davis McCarthy, Jill S. Napierala, Marek Napierala, Shiang Y. Lim bioRxiv 2025.08.20.671405; doi:10.1101/2025.08.20.671405 

This preclinical human model provides valuable insight into the pathogenesis of FRDA and provides a platform for developing early-stage therapeutic interventions.

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