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

Figshare 2026 Dataset Open access

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Authors: Gary Thomas, Laurel Thomas, Yunhan Yang
DOI: 10.6084/m9.figshare.31431733
Cited by: 0

Abstract

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.

Fields of Study & Subjects

Cellular transport and secretion Genetics and Neurodevelopmental Disorders Microtubule and mitosis dynamics

Publication details

Journal / source
Figshare
Publication date
27 February 2026
Language
EN
Document type
Dataset