Literature DB >> 26340523

Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders.

Steven E Hyman1.   

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.
Copyright © 2015 Elsevier Inc. All rights reserved.

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Year:  2015        PMID： 26340523     DOI： 10.1016/j.stem.2015.08.013

Source DB:  PubMed          Journal:  Cell Stem Cell        ISSN： 1875-9777            Impact factor:   24.633


  1 in total

1.  Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons.

Authors:  ChangHui Pak; Tamas Danko; Vincent R Mirabella; Jinzhao Wang; Yingfei Liu; Madhuri Vangipuram; Sarah Grieder; Xianglong Zhang; Thomas Ward; Yu-Wen Alvin Huang; Kang Jin; Philip Dexheimer; Eric Bardes; Alexis Mitelpunkt; Junyi Ma; Michael McLachlan; Jennifer C Moore; Pingping Qu; Carolin Purmann; Jeffrey L Dage; Bradley J Swanson; Alexander E Urban; Bruce J Aronow; Zhiping P Pang; Douglas F Levinson; Marius Wernig; Thomas C Südhof
Journal:  Proc Natl Acad Sci U S A       Date:  2021-06-01       Impact factor: 11.205
  1 in total

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