Abstract
In a comprehensive set of experiments in this issue of Neuron, Kwon et al. demonstrate that conditional inactivation of Pten leads to behavioral abnormalities and neuropathological changes. Pten mutants displayed reduced social interaction and heightened responses to sensory stimuli. Additionally, neuronal hypertrophy, as well as macrocephaly was observed. Based on rare human mutations in PTEN and the PI3K pathway, the authors suggest they have produced a potential animal model of autism with macrocephaly.
MeSH terms
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Animals
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Autistic Disorder / genetics*
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Autistic Disorder / metabolism
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Autistic Disorder / physiopathology
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Behavior, Animal / physiology
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Brain / abnormalities*
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Brain / metabolism
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Brain / physiopathology
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Disease Models, Animal
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Humans
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Hypertrophy / genetics
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Hypertrophy / metabolism
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Hypertrophy / physiopathology
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Nervous System Malformations / genetics*
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Nervous System Malformations / metabolism
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Nervous System Malformations / physiopathology
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PTEN Phosphohydrolase / genetics*
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Phosphatidylinositol 3-Kinases / metabolism
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Psychomotor Agitation / genetics
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Psychomotor Agitation / metabolism
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Psychomotor Agitation / physiopathology
Substances
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Phosphatidylinositol 3-Kinases
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PTEN Phosphohydrolase