Research Progress Report by Olivier Devuyst, MD, PhD, University of Zürich
“Role of Nutrient Sensing and mTORC1 Signaling in Cystinosis.” Objective/Rationale: Cystinosis is a lysosomal storage disease caused by loss-of-function mutations in the CTNS gene coding for the proton-driven transporter cystinosin (CTNS) that exports cystine out of lysosomes. The loss of CTNS results in the lysosomal cystine storage, causing early manifestations of kidney proximal tubule (PT) […]
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