Article
Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1-PAK3 signaling in neuroplasticity.
Molecular psychiatry - 1 Mar 2017
Kim M J, Biag J, Fass D M, Lewis M C, Zhang Q, Fleishman M, Gangwar S P, Machius M, Fromer M, Purcell S M, McCarroll S A, Rudenko G, Premont R T, Scolnick E M, Haggarty S J
Abstract excerpt
Although the pathogenesis of schizophrenia (SCZ) is proposed to involve alterations of neural circuits via synaptic dysfunction, the underlying molecular mechanisms remain poorly understood. Recent exome sequencing studies of SCZ have uncovered numerous single-nucleotide variants (SNVs); however, the majority of these SNVs have unknown functional consequences, leaving their disease relevance uncertain. Filling...
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