Article

Disease-Associated Mutations in Human BICD2 Hyperactivate Motility of Dynein-Dynactin

2017-03-28

Abstract excerpt

Bicaudal D2 (BICD2) joins dynein with dynactin into a ternary complex (termed DDB) capable of processive movement. Point mutations in the BICD2 gene have been identified in patients with a dominant form of spinal muscular atrophy, but how these mutations cause disease is unknown. To investigate this question, we have developed in vitro motility assays with purified DDB and BICD2’s membrane vesicle partner, the GT...

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Literature Corpus work: a705157b-8784-5058-ab4f-dc9b1d2092a4
DOI: 10.1101/121400

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