Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Nature communications - 15 May 2020
Asselin Laure, Rivera Alvarez José, Heide Solveig, Bonnet Camille S, Tilly Peggy, Vitet Hélène, Weber Chantal, Bacino Carlos A, Baranaño Kristin, Chassevent Anna, Dameron Amy, Faivre Laurence, Hanchard Neil A, Mahida Sonal, McWalter Kirsty, Mignot Cyril, Nava Caroline, Rastetter Agnès, Streff Haley, Thauvin-Robinet Christel, Weiss Marjan M, Zapata Gladys, Zwijnenburg Petra J G, Saudou Frédéric, Depienne Christel, Golzio Christelle, Héron Delphine, Godin Juliette D
Abstract excerpt
KIF21B is a kinesin protein that promotes intracellular transport and controls microtubule dynamics. We report three missense variants and one duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malformations, including corpus callosum agenesis (ACC) and microcephaly. We demonstrate, in vivo, that the expression of KIF21B missense variants specifically recapitulates...
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