Article
Investigation of SHANK3 in schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jun 2017
de Sena Cortabitarte Ana, Degenhardt Franziska, Strohmaier Jana, Lang Maren, Weiss Birgit, Roeth Ralph, Giegling Ina, Heilmann-Heimbach Stefanie, Hofmann Andrea, Rujescu Dan, Fischer Christine, Rietschel Marcella, Nöthen Markus M, Rappold Gudrun A, Berkel Simone
Abstract excerpt
The postsynaptic scaffolding protein SHANK3 is essential for the normal function of glutamatergic synapses in the brain. Emerging evidence suggests that impaired plasticity of glutamatergic synapses contributes to the pathology of schizophrenia (SCZ). To investigate whether variants in the SHANK3 gene contribute to the etiology of SCZ, we sequenced SHANK3 in 500 affected individuals (cohort C1). In total, we...
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