Article
Identification and functional characterization of rare SHANK2 variants in schizophrenia.
Molecular psychiatry - 1 Dec 2015
Peykov S, Berkel S, Schoen M, Weiss K, Degenhardt F, Strohmaier J, Weiss B, Proepper C, Schratt G, Nöthen M M, Boeckers T M, Rietschel M, Rappold G A
Abstract excerpt
Recent genetic data on schizophrenia (SCZ) have suggested that proteins of the postsynaptic density of excitatory synapses have a role in its etiology. Mutations in the three SHANK genes encoding for postsynaptic scaffolding proteins have been shown to represent risk factors for autism spectrum disorders and other neurodevelopmental disorders. To address if SHANK2 variants are associated with SCZ, we sequenced...
Topics
- Adult
- Animals
- COS Cells
- Chlorocebus aethiops
- Cohort Studies
- DNA Mutational Analysis
- Female
- Gene Knockdown Techniques
- HEK293 Cells
- Hippocampus
- Humans