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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Detalles Bibliográficos
Autores principales: Dugger, Sarah A., Dhindsa, Ryan S., Sampaio, Gabriela De Almeida, Ressler, Andrew K., Rafikian, Elizabeth E., Petri, Sabrina, Letts, Verity A., Teoh, JiaJie, Ye, Junqiang, Colombo, Sophie, Peng, Yueqing, Yang, Mu, Boland, Michael J., Frankel, Wayne N., Goldstein, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10569524/
https://www.ncbi.nlm.nih.gov/pubmed/37782669
http://dx.doi.org/10.1371/journal.pgen.1010952

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10569524/
https://www.ncbi.nlm.nih.gov/pubmed/37782669
http://dx.doi.org/10.1371/journal.pgen.1010952

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