GeneticsbioRxivPreprint
Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome
Rie Asada Kitamura, Kristina G. Maxwell, Wenjuan Ye…·Fumihiko Urano
This study uses a patient-derived stem cell model to show that a specific WFS1 variant causes mild Wolfram syndrome, which can be treated with chemical chaperones.
DOI 10.1101/2021.11.07.467657