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

Abstract PACS1 syndrome is a neurodevelopmental disorder (NDD) caused by a recurrent de novo missense mutation in PACS1 (p.Arg203Trp (PACS1R203W)). The mechanism by which PACS1R203W causes PACS1 syndrome is unknown, and no curative treatment is available. Here, we use patient cells and PACS1 syndrom...

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Principais autores:	Sabrina Villar-Pazos, Laurel Thomas, Yunhan Yang, Kun Chen, Jenea B. Lyles, Bradley J. Deitch, Joseph Ochaba, Karen Ling, Berit Powers, Sebastien Gingras, Holly B. Kordasiewicz, Melanie J. Grubisha, Yanhua H. Huang, Gary Thomas
Format:	Artigo
Jezik:	Inglês
Izdano:	Nature Portfolio 2023-10-01
Serija:	Nature Communications
Online dostop:	https://doi.org/10.1038/s41467-023-42176-8
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