PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

doi:10.1371/journal.pone.0080737

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Article

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

PloS one - 1 Jan 2013

Paemka Lily, Mahajan Vinit B, Skeie Jessica M, Sowers Levi P, Ehaideb Salleh N, Gonzalez-Alegre Pedro, Sasaoka Toshikuni, Tao Hirotaka, Miyagi Asuka, Ueno Naoto, Takao Keizo, Miyakawa Tsuyoshi, Wu Shu, Darbro Benjamin W, Ferguson Polly J, Pieper Andrew A, Britt Jeremiah K, Wemmie John A, Rudd Danielle S, Wassink Thomas, El-Shanti Hatem, Mefford Heather C, Carvill Gemma L, Manak J Robert, Bassuk Alexander G

Abstract excerpt

The frequent comorbidity of Autism Spectrum Disorders (ASDs) with epilepsy suggests a shared underlying genetic susceptibility; several genes, when mutated, can contribute to both disorders. Recently, PRICKLE1 missense mutations were found to segregate with ASD. However, the mechanism by which mutations in this gene might contribute to ASD is unknown. To elucidate the role of PRICKLE1 in ASDs, we carried out...

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Identifiers

PMID: 24312498
DOI: 10.1371/journal.pone.0080737
PMCID: PMC3849077

Genes

PRICKLE1
SYN1

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