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2023

Rare disease shares mechanism with cystic fibrosis

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Researchers have discovered that the same cellular mechanism involved in a form of cystic fibrosis is also implicated in a form of a rare disease called cystinosis. The mechanism cleans up mutated proteins. In cystinosis, a genetic disease, this allows cystine crystals to build up in the cell. This disrupts the cell, and eventually, tissues and ultimately organs, particularly the kidneys and the eyes.














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