Genetic & Genomic MedicinemedRxivPreprint
A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration
Cherif Badja, Sophie Momen, Ching Chiek Koh…·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.
DOI 10.1101/2023.05.22.23290124