Article

Mechanobiological proximal tubular defects in ARC syndrome: A <i>VPS33B</i> CRISPR knockout study

2025-06-04

Abstract excerpt

ARC syndrome (arthrogryposis-renal dysfunction-cholestasis) is a rare autosomal recessive multisystem disorder affecting the kidneys. The disease is caused by mutations in either VPS33B or VIPAS39 . ARC syndrome is currently incurable, with patients rarely surviving beyond their first year of life. The renal component of this disorder is characterised by proximal tubular dysfunction. Here, a proximal tubular cel...

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Literature Corpus work: d7f78106-5fb1-5951-9c98-40e21ee61fe3
DOI: 10.1101/2025.06.04.657864

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