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September 10, 2025Open Access

SLC4A1 mutations that cause distal renal tubular acidosis alter cytoplasmic pH and cellular autophagy

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Decreased mitochondrial activity is linked to increased cytosolic pH and reduced autophagic function.
Abnormal autophagy was identified in kAE1 R607H dRTA mutant protein, affecting degradative pathways.
Characterization of dRTA variants showed a correlation with transport activity and cellular homeostasis.
Ubiquitin and p62 markers indicate impaired protein degradation linked to SLC4A1 mutations.

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Observational analysis reveals altered pH and autophagy pathways in distal renal tubular acidosis, suggesting complex pathophysiology.

Essuman et al. (2025) studied this question.

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