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) dysfunction followed by multi-systemic complications and kidney failure.
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