Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations

Tight regulation of kinesin activity is crucial and malfunction is linked to neurological diseases. Point mutations in the KIF21A gene cause congenital fibrosis of the extraocular muscles type 1 (CFEOM1) by disrupting the autoinhibitory interaction between the motor domain and a regulatory region in...

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Publicado no:Sci Rep
Main Authors: Bianchi, Sarah, van Riel, Wilhelmina E., Kraatz, Sebastian H. W., Olieric, Natacha, Frey, Daniel, Katrukha, Eugene A., Jaussi, Rolf, Missimer, John, Grigoriev, Ilya, Olieric, Vincent, Benoit, Roger M., Steinmetz, Michel O., Akhmanova, Anna, Kammerer, Richard A.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4971492/
https://ncbi.nlm.nih.gov/pubmed/27485312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep30668
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