Health Sciences → Medicine → Pathology and Forensic Medicine

Biomedical Research and Pathophysiology

This cluster of papers focuses on nephropathic cystinosis, a rare genetic lysosomal storage disorder. The research covers various aspects including the pathogenesis, treatment with cysteamine therapy, complications in multiple organs (especially renal and ocular), molecular genetics involving CTNS gene mutations, and the impact on cellular processes such as autophagy and mitochondrial function.

25.5K works worldwide206.1K citations

CystinosisCysteamine TherapyLysosomal DysfunctionPentose Phosphate PathwayCTNS Gene MutationsRenal ComplicationsOcular ManifestationsAutophagy ImpairmentTransaldolase DeficiencyMitochondrial Dysfunction