Article
Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia.
PloS one - 1 Jan 2017
Jennings Scott, Chenevert Madeline, Liu Liqiong, Mottamal Madhusoodanan, Wojcik Edward J, Huckaba Thomas M
Abstract excerpt
Kif5A is a neuronally-enriched isoform of the Kinesin-1 family of cellular transport motors. 23 separate mutations in the motor domain of Kif5A have been identified in patients with the complicated form of hereditary spastic paraplegia (HSP). We performed in vitro assays on dimeric recombinant Kif5A with HSP-causing mutations in the Switch I domain, which participates in the coordination and hydrolysis of ATP by...
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