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doi: 10.1016/j.arabjc.2017.12.036

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Cystinosin deficiency leads to impaired lysosomal clearance and disrupted endolysosomal trafficking, which in turn contributes to defective autophagy and altered proteostasis [144, 146, 147]

A considerable percentage of the worlds population has at least one variant of this gene

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46,47 These effects are mediated by SIRT1 pathway activation, which optimizes mitochondrial function and autophagy, and by miRNA-dependent regulation (e.g., miR-146a targeting Nrf2/NF-B pathways), although the mechanisms vary across cell types and microenvironments