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, Kelly Kries, CRIS M. BROWN, Punn Augsornworawat, Yoel Hirsch, Martin M. Johansson, Tzvi Weiden, Joseph Ekstein, Joshua N. Cohen, Justin B. Klee, Kent L. Leslie, Anton M. Simeonov, Mark J. Henderson, , 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.
bioRxiv · Nov 7, 2021 · PreprintGenetics