@article {1351147,
	title = {Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling},
	journal = {Neuron},
	volume = {82},
	number = {2},
	year = {2014},
	month = {2014 Apr 16},
	pages = {334-49},
	abstract = {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{\textquoteright}s superior division stall in the proximal nerve; the growth cones enlarge, extend excessive filopodia, and assume random trajectories. Inferior division axons reach the orbit but branch ectopically. We establish a gain-of-function mechanism and find that human motor or stalk mutations attenuate Kif21a autoinhibition, providing in vivo evidence for mammalian kinesin autoregulation. We identify Map1b as a Kif21a-interacting protein and report that Map1b$^{-}$/$^{-}$ mice develop CFEOM. The interaction between Kif21a and Map1b is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton.},
	keywords = {Age Factors, Animals, Animals, Newborn, Axons, Cell Count, Disease Models, Animal, Embryo, Mammalian, Eye Diseases, Hereditary, Eye Movements, Fibrosis, Gene Expression Regulation, Green Fluorescent Proteins, HEK293 Cells, Humans, Kinesin, Mice, Mice, Transgenic, Microtubule-Associated Proteins, Mutation, Neural Pathways, Ocular Motility Disorders, Oculomotor Nerve},
	issn = {1097-4199},
	doi = {10.1016/j.neuron.2014.02.038},
	author = {Cheng, Long and Desai, Jigar and Miranda, Carlos J and Duncan, Jeremy S and Qiu, Weihong and Nugent, Alicia A and Kolpak, Adrianne L and Wu, Carrie C and Drokhlyansky, Eugene and DeLisle, Michelle M and Chan, Wai-Man and Wei, Yan and Propst, Friedrich and Reck-Peterson, Samara L and Fritzsch, Bernd and Engle, Elizabeth C}
}
