PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2

Abstract PACS1 syndrome is a neurodevelopmental disorder caused by a recurrent heterozygous missense mutation in PACS1 (p.R203W). We previously showed that PACS1R203W aberrantly potentiates HDAC6 activity, leading to Golgi fragmentation and neuronal deficits through an unresolved mechanism (Villar-P...

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Bibliografiske detaljer

Principais autores:	Yunhan Yang, Laurel Thomas, Kun Chen, Sabrina Villar-Pazos, Wendy D. Haffey, Andrew D’Agostino, Kayleigh Fanelli, You-Jin Choi, Vihaan Rathi, Maanas S. Matlapudi, Kenneth D. Greis, Gary Thomas
Format:	Artigo
Sprog:	Inglês
Udgivet:	Nature Portfolio 2026-03-01
Serier:	Communications Biology
Online adgang:	https://doi.org/10.1038/s42003-026-09924-0
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