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Article

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

PloS one - 1 Jan 2012

Kelleher Raymond J, Geigenmüller Ute, Hovhannisyan Hayk, Trautman Edwin, Pinard Robert, Rathmell Barbara, Carpenter Randall, Margulies David

Abstract excerpt

Identification of common molecular pathways affected by genetic variation in autism is important for understanding disease pathogenesis and devising effective therapies. Here, we test the hypothesis that rare genetic variation in the metabotropic glutamate-receptor (mGluR) signaling pathway contributes to autism susceptibility. Single-nucleotide variants in genes encoding components of the mGluR signaling pathway...

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Source

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Identifiers

PMID: 22558107
DOI: 10.1371/journal.pone.0035003
PMCID: PMC3338748

Genes

HOMER1
TSC1
TSC2

Provenance

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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