Kavli Affiliate: Shawn Ferguson | Authors: Layla M Nassar, xiaojian Shi, Agnes Roczniak-Ferguson, Hongying Shen and Shawn M Ferguson | Summary: Lysosomes break down macromolecules, clear cellular waste and recycle nutrients such as cystine. We describe a novel mechanism whereby JIP4 regulates lysosomal cystine storage by controlling the abundance of cystinosin (CTNS), the transporter responsible […]
Continue.. JIP4 deficiency causes a novel lysosome storage disease arising from impaired cystine efflux