Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling-Reference-Cited by-同舟云学术

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

Published:2014-04 Issue:2 Volume:82 Page:334-349
ISSN:0896-6273
Container-title:Neuron
language:en
Short-container-title:Neuron

Author:

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.

Publisher

Elsevier BV

Subject

General Neuroscience

Reference35 articles.

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2. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity;Boyden;Am. J. Hum. Genet.,2011

3. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation;Cederquist;Hum. Mol. Genet.,2012

4. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1;Chan;BMC Genet.,2007

5. Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2;Crimella;Clin. Genet.,2012

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