Article

<i>SLC4A1</i> MUTATIONS THAT CAUSE DISTAL RENAL TUBULAR ACIDOSIS ALTER CYTOPLASMIC PH AND CELLULAR AUTOPHAGY

2024-10-28

Abstract excerpt

Distal renal tubular acidosis (dRTA) is a disorder characterized by the inability of the collecting duct system to secrete acids during metabolic acidosis. The pathophysiology of dominant or recessive SLC4A1 variant related dRTA has been linked with the mis trafficking defect of mutant kAE1 protein. However, in vivo studies in kAE1 R607H dRTA mice and humans have revealed a complex pathophysiology implicating a...

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Literature Corpus work: 243a6ed9-109b-5ae2-80da-917bf7bf8c71
DOI: 10.1101/2024.10.23.619718

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