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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Pubblicato in:Sci Rep
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online: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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