Biallelic variants in KIF14 cause intellectual disability with microcephaly
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-017-0088-9.pdf
Reference37 articles.
1. Marx A, Hoenger A, Mandelkow E. Structures of kinesin motor proteins. Cell Motil Cytoskelet. 2009;66:958–66.
2. Verhey KJ, Kaul N, Soppina V. Kinesin assembly and movement in cells. Annu Rev Biophys. 2011;40:267–88.
3. Brady ST. A novel brain ATPase with properties expected for the fast axonal transport motor. Nature. 1985;317:73–75.
4. Vale RD, Reese TS, Sheetz MP. Identification of a novel force-generating protein, kinesin, involved in microtubule-based motility. Cell. 1985;42:39–50.
5. Hirokawa N, Noda Y, Tanaka Y, Niwa S. Kinesin superfamily motor proteins and intracellular transport. Nat Rev Mol Cell Biol. 2009;10:682–96.
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