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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Xue-Li Yang

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Open access Sep 2026

Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling

The integrated multi-omics and functional approach establishes a strong association between the SLC12A3 p.C421F mutation and a state of mitochondrial bioenergetic failure—characterized by impaired oxidative phosphorylation, an ATP deficit, and a compensatory metabolic shift towards glycolysis—in GS.

Hong-Han Zhang, Wen-Qian Zhao, Lan-Xin Ma et al. · 0 citations

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