Article
PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2.
Communications biology - 27 Mar 2026
Yang Yunhan, Thomas Laurel, Chen Kun, Villar-Pazos Sabrina, Haffey Wendy D, D'Agostino Andrew, Fanelli Kayleigh, Choi You-Jin, Rathi Vihaan, Matlapudi Maanas S, Greis Kenneth D, Thomas Gary
Abstract excerpt
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-Pazos and Thomas et al., Nature Commun. 14:6547-6564 (2023)). Here, we identify cytoplasmic dynein-1 heavy chain (DHC1) as a...
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