Biomedical Research and Pathophysiology

Cystinosin/Ers1 functions in redox homeostasis in the early secretory pathway

This study identifies a conserved role of cystinosin/Ers1 in the early secretory pathway, revealing new insights into cystinosis pathology beyond lysosomal cystine transport.

SGLT2 Inhibitors Rescue Lysosomal mTORC1 Hyperactivity and Proximal Tubulopathy in Preclinical Models of Cystinosis

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

Lysosomal reduced thiols are essential for mouse embryonic development

This study shows that MFSD12 is essential for mouse embryonic development by supplying reduced cysteine to lysosomes, and cysteamine treatment rescues Mfsd12 knockout mice.

JIP4 deficiency causes a novel lysosome storage disease arising from impaired cystine efflux

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

Cystinosin is involved in Na+/H+ Exchanger 3 trafficking in the proximal tubular cells: new insights in the renal Fanconi syndrome in cystinosis

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.

CTNS mRNA as a potential treatment for nephropathic cystinosis

This paper demonstrates that synthetic CTNS mRNA therapy can restore cystinosin function and reduce cystine accumulation in kidney cells and zebrafish models of cystinosis.

Event-related potential (ERP) evidence of early visual processing differences in cystinosis

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

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

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.

Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

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.

Cystinosin regulates kidney inflammation through its interaction with galectin-3

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