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Article

Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.

Human mutation - 1 Oct 2018

Sánchez-Sánchez Sandra M, Magdalon Juliana, Griesi-Oliveira Karina, Yamamoto Guilherme L, Santacruz-Perez Carolina, Fogo Mariana, Passos-Bueno Maria Rita, Sertié Andrea L

Abstract excerpt

The Reelin-DAB1 signaling pathway plays a crucial role in regulating neuronal migration and synapse function. Although many rare heterozygous variants in the Reelin gene (RELN) have been identified in patients with autism spectrum disorder (ASD), most variants are still of unknown clinical significance. Also, genetic data suggest that heterozygous variants in RELN alone appear to be insufficient to cause ASD....

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Share to Autism Spectrum Disorder
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Neural Stem Cells

Share to Proto-Oncogene Proteins c-akt

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Share to Serine Endopeptidases

Share to TOR Serine-Threonine Kinases

Source

Identifiers

PMID: 29969175
DOI: 10.1002/humu.23584

Genes

DAB1
RELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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