Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling

The ocular motility disorder “Congenital fibrosis of the extraocular muscles type 1″ (CFEOM1) results from heterozygous mutations altering the motor and 3(rd) coiled-coil stalk of the anterograde kinesin, KIF21A. We demonstrate that Kif21a knock-in mice harboring the most common human mutation devel...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2014
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4002761/
https://ncbi.nlm.nih.gov/pubmed/24656932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2014.02.038
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