Autism-Open Access
Open Access

Chiara Nicolini

Publications

• Review
  Bridging the Gap between Genes and Behavior: Brain-Derived Neurotrophic Factor and the mTOR Pathway in Idiopathic Autism
  Author(s): Margaret Fahnestock and Chiara Nicolini Margaret Fahnestock and Chiara Nicolini
  
  Although autism is highly genetic, “idiopathic” cases, for which there is no known genetic basis, may be due to epigenetic or environmental factors. Indeed, recent efforts have been highly successful in identifying hundreds of genes, as well as interacting epigenetic and environmental factors that contribute to autism susceptibility, corroborating the importance of gene x environment interactions in the etiology of autism. Nevertheless, a more thorough understanding of the proteins and pathways that lead from genes to behavior is desperately needed. Genetic studies have implicated molecules involved in synapse development and plasticity in autism pathogenesis. Among these are brain-derived neurotrophic factor (BDNF), its receptor, tropomyosin-related kinase B (TrkB), and their signaling pathways including mammalian target of rapamycin (mTOR), which is increased i.. View More»
  DOI: 10.4172/2165-7890.1000143

  Abstract PDF

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