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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971492/
https://www.ncbi.nlm.nih.gov/pubmed/27485312
http://dx.doi.org/10.1038/srep30668