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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Vydáno v:Sci Rep
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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Article
On-line přístup: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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