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ADPKD variants in the PKD2 pore helix cause structural collapse of the gate and distinct forms of channel dysfunction

2024-09-13

Abstract excerpt

<h4>ABSTRACT</h4> PKD2 is a member of the polycystin subfamily of transient receptor potential (TRP) ion channel subunits which traffic and function in primary cilia organelle membranes. Millions of individuals carry pathogenic genetic variants in PKD2 that cause a life-threatening condition called autosomal dominant polycystic kidney disease (ADPKD). Although ADPKD is a common monogenetic disorder, there is no d...

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Identifiers and source

Literature Corpus work
e21098fe-8139-5a25-ad8f-50c3dff29119
DOI
10.1101/2024.09.12.612744
Open publication

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ADPKD variants in the PKD2 pore helix cause structural collapse of the gate and distinct forms of channel dysfunctionDOI 10.1101/2024.09.12.612744
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