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Article

Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.

Proceedings of the National Academy of Sciences of the United States of America - 12 May 2020

Vien Thuy N, Wang Jinliang, Ng Leo C T, Cao Erhu, DeCaen Paul G

Abstract excerpt

Genetic variants in PKD2 which encodes for the polycystin-2 ion channel are responsible for many clinical cases of autosomal dominant polycystic kidney disease (ADPKD). Despite our strong understanding of the genetic basis of ADPKD, we do not know how most variants impact channel function. Polycystin-2 is found in organelle membranes, including the primary cilium-an antennae-like structure on the luminal side of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32332171
DOI: 10.1073/pnas.1920777117
PMCID: PMC7229662

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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