NIH R01 · 2024
Molecular and Cellular Mechanisms of the Lysosomal Storage Disease Cystinosis
SUMMARY Lysosomal function is crucial for cell homeostasis, autophagy, nutrient sensing, apoptosis and tissue remodeling. In lysosomal storage disorders (LSDs), characterized by genetic defects leading to anomalous accumulation of metabolites in lysosomes, cells are affected by lysosomal malfunction frequently leading to cell death. Cystinosis is a lysosomal storage disorder resulting from defects in the cystine transporter cystinosin (CTNS). Increased levels of intra-lysosomal cystine lead to cell malfunction and progressive tissue deterioration, which is especially manifested in kidneys. As with most LSDs, this leads to a slow but irreversible deterioration, organ dysfunction and early…
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