Biomedical Research and Pathophysiology

This study shows SGLT2 inhibitors reduce mTORC1 hyperactivity and proximal tubulopathy in cystinosis models by altering lysosomal metabolism, independent of cystine clearance.

This study shows that JIP4 deficiency causes lysosomal cystine accumulation by reducing CTNS levels, mimicking cystinosis in human cells and mice.

This study identifies a novel role of cystinosin in NHE3 trafficking in proximal tubular cells, contributing to renal Fanconi syndrome in cystinosis and suggesting new therapeutic targets.

This study uses ERP to find early visual processing differences in cystinosis, showing larger VEPs and altered neural-verbal ability associations.

This study investigates response inhibition and error-monitoring in cystinosis using behavioral and electrophysiological measures, finding atypical inhibitory processing and reduced error-related positivity in affected individuals.

The paper investigates auditory sensory memory in Cystinosis using MMN and finds reduced responses for longer SOAs, suggesting impaired sensory memory despite typical basic auditory processing.

This study shows cystinosin regulates kidney inflammation by interacting with galectin-3, enhancing its lysosomal degradation and reducing macrophage infiltration in cystinosis.