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- W4237237590 abstract "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 neuronal protein synthesis in the hippocampus of Tsc2(+/-) and Fmr1(-/y) mice, here we show that synaptic dysfunction caused by these mutations actually falls at opposite ends of a physiological spectrum. Synaptic, biochemical and cognitive defects in these mutants are corrected by treatments that modulate metabotropic glutamate receptor 5 in opposite directions, and deficits in the mutants disappear when the mice are bred to carry both mutations. Thus, normal synaptic plasticity and cognition occur within an optimal range of metabotropic glutamate-receptor-mediated protein synthesis, and deviations in either direction can lead to shared behavioural impairments. PMID: 22113615 Funding information This work was supported by: NIMH NIH HHS, United States Grant ID: T32 MH082718 NICHD NIH HHS, United States Grant ID: 2R01HD046943 NIMH NIH HHS, United States Grant ID: T32 MH074249-02 NIMH NIH HHS, United States Grant ID: T32 MH074249 NICHD NIH HHS, United States Grant ID: R01 HD046943 NIMH NIH HHS, United States Grant ID: T32 MH-082718 NIMH NIH HHS, United States Grant ID: T32-MH-074249 Howard Hughes Medical Institute, United States NICHD NIH HHS, United States Grant ID: R01 HD046943-07 More Less keyboard_arrow_down" @default.
- W4237237590 created "2022-05-12" @default.
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- W4237237590 date "2011-12-01" @default.
- W4237237590 modified "2023-10-05" @default.
- W4237237590 title "Faculty Opinions recommendation of Mutations causing syndromic autism define an axis of synaptic pathophysiology." @default.
- W4237237590 doi "https://doi.org/10.3410/f.13385959.14754080" @default.
- W4237237590 hasPublicationYear "2011" @default.
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