Dysregulation of mammalian target of rapamycin signaling in mouse models of autism

Kimberly M. Huber, Eric Klann, Mauro Costa-Mattioli, R. Suzanne Zukin

Research output: Contribution to journalArticlepeer-review


The mammalian target of rapamycin (mTOR) is a central regulator of a diverse array of cellular processes, including cell growth, proliferation, autophagy, translation, and actin polymerization. Components of the mTOR cascade are present at synapses and influence synaptic plasticity and spine morphogenesis. A prevailing view is that the study of mTOR and its role in autism spectrum disorders (ASDs) will elucidate the molecular mechanisms by which mTOR regulates neuronal function under physiological and pathological conditions. Although many ASDs arise as a result of mutations in genes with multiple molecular functions, they appear to converge on common biological pathways that give rise to autism-relevant behaviors. Dysregulation of mTOR signaling has been identified as a phenotypic feature common to fragile X syndrome, tuberous sclerosis complex 1 and 2, neurofibromatosis 1, phosphatase and tensin homolog, and potentially Rett syndrome. Below are a summary of topics covered in a symposium that presents dysregulation of mTOR as a unifying theme in a subset of ASDs.

Original languageEnglish (US)
Pages (from-to)13836
Number of pages1
JournalJournal of Neuroscience
Issue number41
StatePublished - Oct 14 2015


  • Fragile X syndromes
  • MTOR signaling
  • Mouse models of autism
  • Protein synthesis pathway

ASJC Scopus subject areas

  • General Neuroscience


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