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

doi:10.1073/pnas.2025598118

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 2021

Pak ChangHui, Danko Tamas, Mirabella Vincent R, Wang Jinzhao, Liu Yingfei, Vangipuram Madhuri, Grieder Sarah, Zhang Xianglong, Ward Thomas, Huang Yu-Wen Alvin, Jin Kang, Dexheimer Philip, Bardes Eric, Mitelpunkt Alexis, Ma Junyi, McLachlan Michael, Moore Jennifer C, Qu Pingping, Purmann Carolin, Dage Jeffrey L, Swanson Bradley J, Urban Alexander E, Aronow Bruce J, Pang Zhiping P, Levinson Douglas F, Wernig Marius, Südhof Thomas C

Abstract excerpt

Heterozygous NRXN1 deletions constitute the most prevalent currently known single-gene mutation associated with schizophrenia, and additionally predispose to multiple other neurodevelopmental disorders. Engineered heterozygous NRXN1 deletions impaired neurotransmitter release in human neurons, suggesting a synaptic pathophysiological mechanism. Utilizing this observation for drug discovery, however, requires...

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Identifiers

PMID: 34035170
DOI: 10.1073/pnas.2025598118
PMCID: PMC8179243

Genes

NRXN1
CASK

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