JIP4 deficiency causes a novel lysosome storage disease arising from impaired cystine efflux
Layla M. Nassar, Xiaojian Shi, Agnes Roczniak-Ferguson, Hongying Shen, Shawn M. Ferguson
This study shows that JIP4 deficiency causes lysosomal cystine accumulation by reducing CTNS levels, mimicking cystinosis in human cells and mice.
bioRxiv · Jun 6, 2025 · PreprintCell Biology