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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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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2016
Ämnen:
Länkar: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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