Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders.
Connecting rare genetic variants to neuropsychiatric disease mechanisms remains a significant challenge. In this issue of Cell Stem Cell, Pak et al. (2015) combine gene targeting and stem cell technologies to identify a significant cellular effect of rare penetrant NRXN1 mutations in human neurons, which was found to cause a defect in neurotransmitter release.
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA. Electronic address: seh@harvard.edu.
Steven E
SE
Hyman
D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D006801:Humans; D001523:Mental Disorders / Q000235:genetics*; D008954:Models, Biological; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009435:Synaptic Transmission
D015816:Cell Adhesion Molecules, Neuronal; D009419:Nerve Tissue Proteins