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Article

DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.

Proceedings of the National Academy of Sciences of the United States of America - 28 Feb 2017

Hoang Ha Thi, Schlager Max A, Carter Andrew P, Bullock Simon L

Abstract excerpt

Mutations in the human DYNC1H1 gene are associated with neurological diseases. DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, a 1.4-MDa motor complex that traffics organelles, vesicles, and macromolecules toward microtubule minus ends. The effects of the DYNC1H1 mutations on dynein motility, and consequently their links to neuropathology, are not understood. Here, we address this issue using a...

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Identifiers

PMID: 28196890
DOI: 10.1073/pnas.1620141114
PMCID: PMC5338514

Genes

BICD2

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