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Article

Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.

Biochemical Society transactions - 1 Dec 2013

Lipka Joanna, Kuijpers Marijn, Jaworski Jacek, Hoogenraad Casper C

Abstract excerpt

Neurons are highly specialized for the processing and transmission of electrical signals and use cytoskeleton-based motor proteins to transport different vesicles and cellular materials. Abnormalities in intracellular transport are thought to be a critical factor in the degeneration and death of neurons in both the central and peripheral nervous systems. Several recent studies describe disruptive mutations in the...

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Identifiers

PMID: 24256262
DOI: 10.1042/BST20130188

Genes

BICD2
NDE1

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