Journal article

Altered Visual Function in a Larval Zebrafish Knockout of Neurodevelopmental Risk Gene pdzk1

Jiaheng Xie, Patricia R Jusuf, Bang Bui, Stefanie Dudczig, Tamar E Sztal, Patrick T Goodbourn

Investigative Ophthalmology & Visual Science | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2021


Purpose: The human PDZK1 gene is located in a genomic susceptibility region for neurodevelopmental disorders. A genome-wide association study identified links between PDZK1 polymorphisms and altered visual contrast sensitivity, an endophenotype for schizophrenia and autism spectrum disorder. The PDZK1 protein is implicated in neurological functioning, interacting with synaptic molecules including postsynaptic density 95 (PSD-95), N-methyl-d-aspartate receptors (NMDARs), corticotropin-releasing factor receptor 1 (CRFR1), and serotonin 2A receptors. The purpose of the present study was to elucidate the role of PDZK1. Methods: We generated pdzk1-knockout (pdzk1-KO) zebrafish using CRISPR/Cas-9 ..

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Awarded by Australian Research Council

Funding Acknowledgements

Supported by a grant from the Melbourne Neuroscience Institute (to PTG, PRJ, BVB). PTG was supported by a Discovery Early Career Researcher Award from the Australian Research Council (DE160100125).