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,...

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Veröffentlicht in:	Cell stem cell 2015-09, Vol.17 (3), p.253-254
1. Verfasser:	Hyman, Steven E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell Adhesion Molecules, Neuronal - genetics Humans Mental Disorders - genetics Models, Biological Mutation - genetics Nerve Tissue Proteins - genetics Synaptic Transmission
Online-Zugang:	Volltext
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Zusammenfassung:	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. 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.
ISSN:	1934-5909 1875-9777
DOI:	10.1016/j.stem.2015.08.013