ADPKD-Causing Missense Variants in Polycystin-1 Disrupt Cell Surface Localization or Polycystin Channel Function

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the leading monogenic cause of kidney failure and affects millions of people worldwide. Despite the prevalence of this monogenic disorder, our limited mechanistic understanding of ADPKD has hindered therapeutic development. Here, we successfully developed bioassays that functionally classify missense variants in polycystin-1 (PC1). Strikingly, ADPKD pathogeni...

Topics

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• Cilia
• Genetic and Kidney Cyst Diseases
• Membrane Potentials
• Mutation
• Polycystic Kidney, Autosomal Dominant
• Protein Transport
• Structure-Activity Relationship
• TRPP Cation Channels

Identifiers and source

Literature Corpus work

6ab37886-c04c-5f1b-9fff-fdf37a786912

DOI

10.1101/2023.12.04.570035