Y.-G. Xie

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

Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by SLC12A3 gene mutations. While electrolyte disturbances are well-defined, the systemic metabolic consequences and underlying mechanisms remain unclear. This study investigated whether SLC12A3 mutation drives mi...