{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dugger SA"],"funding":["National Institute of Neurological Disorders and Stroke","Robins Family Foundation","NCATS NIH HHS","T32 National Research Service Award","NINDS NIH HHS","NIGMS NIH HHS"],"pagination":["e1010952"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10569524"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(10)"],"pubmed_abstract":["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 neurophysiologic and cell-type-specific transcriptomic consequences of a mouse model of HNRNPU haploinsufficiency. Heterozygous mutants demonstrated global developmental delay, impaired ultrasonic vocalizations, cognitive dysfunction and increased seizure susceptibility, thus modeling aspects of the human disease. Single-cell RNA-sequencing of hippocampal and neocortical cells revealed widespread, yet modest, dysregulation of gene expression across mutant neuronal subtypes. We observed an increased burden of"],"journal":["PLoS genetics"],"pubmed_title":["Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency."],"pmcid":["PMC10569524"],"funding_grant_id":["R37 NS031348","T32 GM007367","GM007367","Private family foundation","TL1 TR001875","TL1TR001875"],"pubmed_authors":["Peng Y","Dhindsa RS","Rafikian EE","Goldstein DB","Yang M","Letts VA","Ressler AK","Petri S","Teoh J","Dugger SA","Boland MJ","Colombo S","Frankel WN","Sampaio GA","Ye J"],"additional_accession":[]},"is_claimable":false,"name":"Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency.","description":"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 neurophysiologic and cell-type-specific transcriptomic consequences of a mouse model of HNRNPU haploinsufficiency. Heterozygous mutants demonstrated global developmental delay, impaired ultrasonic vocalizations, cognitive dysfunction and increased seizure susceptibility, thus modeling aspects of the human disease. Single-cell RNA-sequencing of hippocampal and neocortical cells revealed widespread, yet modest, dysregulation of gene expression across mutant neuronal subtypes. We observed an increased burden of","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Oct","modification":"2026-07-14T22:03:18.413Z","creation":"2025-04-05T12:06:03.212Z"},"accession":"S-EPMC10569524","cross_references":{"pubmed":["37782669"],"doi":["10.1371/journal.pgen.1010952"]}}