Article
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Neuron - 16 Apr 2014
Cheng Long, Desai Jigar, Miranda Carlos J, Duncan Jeremy S, Qiu Weihong, Nugent Alicia A, Kolpak Adrianne L, Wu Carrie C, Drokhlyansky Eugene, Delisle Michelle M, Chan Wai-Man, Wei Yan, Propst Friedrich, Reck-Peterson Samara L, Fritzsch Bernd, Engle Elizabeth C
Abstract excerpt
The ocular motility disorder "Congenital fibrosis of the extraocular muscles type 1" (CFEOM1) results from heterozygous mutations altering the motor and third coiled-coil stalk of the anterograde kinesin, KIF21A. We demonstrate that Kif21a knockin mice harboring the most common human mutation develop CFEOM. The developing axons of the oculomotor nerve's superior division stall in the proximal nerve; the growth...
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