Article
Combining Selenocystine Based Fluorescence Assay with Structural Prediction for Enhanced Detection and Analysis of Cystine Stone Pathology
2025-09-04
Abstract excerpt
<h4>Background</h4> Cystine stones, a rare but recurrent type of kidney stones, primarily result from cystinuria, an inherited disorder caused by mutations in the genes SLC3A1 and SLC7A9 , which encode renal cystine transporters. These mutations impair cystine reabsorption, resulting in elevated urinary cystine concentrations and stone formation. Current diagnostic methods are limited, particularly for detectin...
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Identifiers and source
- Literature Corpus work
- ae29022f-f412-5bee-92b5-89a8f80cabb9
- DOI
- 10.1101/2025.08.29.673186
