Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders

Cell Stem Cell
Steven E Hyman

Abstract

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.

References

Jan 28, 2014·Nature·Shaun M PurcellPamela Sklar
Jul 25, 2014·Nature·UNKNOWN Schizophrenia Working Group of the Psychiatric Genomics Consortium

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Citations

May 27, 2021·Proceedings of the National Academy of Sciences of the United States of America·ChangHui PakThomas C Südhof

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