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Article

PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.

European journal of human genetics : EJHG - 1 Aug 2021

Bayat Allan, Iqbal Sumaiya, Borredy Kim, Amiel Jeanne, Zweier Christiane, Barcia Guilia, Kraus Cornelia, Weyhreter Heike, Bassuk Alexander G, Chopra Maya, Rubboli Guido, Møller Rikke S

Abstract excerpt

PRICKLE2 encodes a member of a highly conserved family of proteins that are involved in the non-canonical Wnt and planar cell polarity signaling pathway. Prickle2 localizes to the post-synaptic density, and interacts with post-synaptic density protein 95 and the NMDA receptor. Loss-of-function variants in prickle2 orthologs cause seizures in flies and mice but evidence for the role of PRICKLE2 in human disease is...

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Identifiers

PMID: 34092786
DOI: 10.1038/s41431-021-00912-y
PMCID: PMC8385026

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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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