Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency.

Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targeted therapies, we characterized the neurophysiolo...

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Bibliographic Details

Published in:	PLoS Genetics
Main Authors:	Sarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, Andrew K Ressler, Elizabeth E Rafikian, Sabrina Petri, Verity A Letts, JiaJie Teoh, Junqiang Ye, Sophie Colombo, Yueqing Peng, Mu Yang, Michael J Boland, Wayne N Frankel, David B Goldstein
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2023-10-01
Online Access:	https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010952&type=printable