PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2
收藏NIAID Data Ecosystem2026-05-10 收录
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PACS1 syndrome is a neurodevelopmental disorder caused by a recurrent heterozygous missense mutation in PACS1 (p.R203W). Here, we identify cytoplasmic dynein-1 heavy chain (DHC1) as a PACS1 interactor essential for maintaining furin localization at the trans-Golgi network. PACS1R203W induces a dynein loss-of-function phenotype that disrupts furin trafficking and Golgi organization.
创建时间：
2026-02-27
