A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration
Cherif Badja, Sophie Momen, Ching Chiek Koh, Soraya Boushaki, Theodoros I. Roumeliotis, Zuza Kozik, Ian Jones, Vicky Bousgouni, João M.L. Dias, Marios G. Krokidis, Jamie Young, Hongwei Chen, Ming Hui Yang, France Docquier, Yasin Memari, , Serena Nik‐Zainal
This study investigates neurodegeneration in Xeroderma pigmentosum using stem cell-derived neurons, identifying endoplasmic reticulum stress and UPS dysfunction as key factors and developing an early detection assay.
medRxiv · May 22, 2023 · PreprintGenetic & Genomic Medicine