Article
A highly conserved 310 helix within the kinesin motor domain is critical for kinesin function and human health.
Science advances - 1 Apr 2021
Lam Aileen J, Rao Lu, Anazawa Yuzu, Okada Kyoko, Chiba Kyoko, Dacy Mariah, Niwa Shinsuke, Gennerich Arne, Nowakowski Dan W, McKenney Richard J
Abstract excerpt
KIF1A is a critical cargo transport motor within neurons. More than 100 known mutations result in KIF1A-associated neurological disorder (KAND), a degenerative condition for which there is no cure. A missense mutation, P305L, was identified in children diagnosed with KAND, but the molecular basis for the disease is unknown. We find that this conserved residue is part of an unusual 310 helix immediately adjacent...
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