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Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy

PACS1 syndrome is a neurodevelopmental disorder (NDD) caused by a recurrent de novo missense mutation in PACS1 (p.Arg203Trp (PACS1(R203W))). The mechanism by which PACS1(R203W) causes PACS1 syndrome is unknown, and no curative treatment is available. Here, we use patient cells and PACS1 syndrome mic...

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Detalles Bibliográficos
Autores principales: Villar-Pazos, Sabrina, Thomas, Laurel, Yang, Yunhan, Chen, Kun, Lyles, Jenea B., Deitch, Bradley J., Ochaba, Joseph, Ling, Karen, Powers, Berit, Gingras, Sebastien, Kordasiewicz, Holly B., Grubisha, Melanie J., Huang, Yanhua H., Thomas, Gary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582149/
https://www.ncbi.nlm.nih.gov/pubmed/37848409
http://dx.doi.org/10.1038/s41467-023-42176-8