Gene editing improves Endoplasmic reticulum-mitochondrial contacts and Unfolded Protein Response in Friedreich's Ataxia iPSC-derived neurons

Priyanka Mishra, Anusha Sivakumar, Avalon Johnson, Carla Pernaci, Anna S. Warden, Lilas Rony El- Hachem, Emily Hansen1, Rafael A. Badell-Grau, VEENITA KHARE, Gabriela Ramirez, Sydney Gillette, Peng Guo, Nicole Coufal, Stephanie Cherqui. Front. Pharmacol., Sec. Neuropharmacology, Volume 15 - 2024 | doi: 10.3389/fphar.2024.1323491

Taken together, these results represent a novel finding for disease pathogenesis showing dramatic ER structural damage in FRDA, validate the efficacy profile of our FXN gene editing approach in a disease relevant model, and support our approach as an effective strategy for therapeutic intervention for Friedreich's ataxia.

Gene editing improves Endoplasmic reticulum-mitochondrial contacts and Unfolded Protein Response in Friedreich's Ataxia iPSC-derived neurons