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Article

Mutations causing syndromic autism define an axis of synaptic pathophysiology.

Nature - 23 Nov 2011

Auerbach Benjamin D, Osterweil Emily K, Bear Mark F

Abstract excerpt

Tuberous sclerosis complex and fragile X syndrome are genetic diseases characterized by intellectual disability and autism. Because both syndromes are caused by mutations in genes that regulate protein synthesis in neurons, it has been hypothesized that excessive protein synthesis is one core pathophysiological mechanism of intellectual disability and autism. Using electrophysiological and biochemical assays of...

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Identifiers

PMID: 22113615
DOI: 10.1038/nature10658
PMCID: PMC3228874

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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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