Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice

Abstract In most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed. In contrast, all Xdh(− / −) mice die due to renal failure before reaching adulthood at 8 weeks of age. Hypoxanthine or x...

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Main Authors: Kazuki Terada, Tamaki Watanabe, Nobuhiro Yasuno, Toshio Ohtsubo, Shigeru Shibata, Kimiyoshi Ichida, Makoto Hosoyamada
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-87751-9
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