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Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel

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Science Translational Medicine  13 Dec 2017:
Vol. 9, Issue 420, eaah4985
DOI: 10.1126/scitranslmed.aah4985

Thorase ATPase, a multifunctional enzyme

Alterations in glutamatergic neurotransmission are thought to contribute to schizophrenia, a neuropsychiatric disease with multifactorial causes. Umanah et al. identified variants in the AAA+ ATPase Thorase in several patients with schizophrenia. They show in vitro that these variants disrupted the expression of glutamate receptors, altering their physiological function in mouse primary cortical neurons. Mice expressing these variants exhibited behavioral deficits. An FDA-approved drug, Perampanel, rescued these behavioral deficits, suggesting that Perampanel may be useful for treating diseases involving aberrant glutamatergic neurotransmission.