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Article

A novel mouse model reveals that polycystin-1 deficiency in ependyma and choroid plexus results in dysfunctional cilia and hydrocephalus.

PloS one - 23 Sept 2009

Wodarczyk Claas, Rowe Isaline, Chiaravalli Marco, Pema Monika, Qian Feng, Boletta Alessandra

Abstract excerpt

Polycystin-1 (PC-1), the product of the PKD1 gene, mutated in the majority of cases of Autosomal Dominant Polycystic Kidney Disease (ADPKD), is a very large (approximately 520 kDa) plasma membrane receptor localized in several subcellular compartments including cell-cell/matrix junctions as well as cilia. While heterologous over-expression systems have allowed identification of several of the potential biological...

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Identifiers

PMID: 19774080
DOI: 10.1371/journal.pone.0007137
PMCID: PMC2743994

Genes

PKD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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