Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Kinesins regulate intracellular transport and microtubule dynamics. Here, the authors show that KIF21B variants in humans associate with corpus callosum agenesis and microcephaly. Using mice and zebrafish, they showed the cellular mechanisms altered by the missense KIF21B variants.
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Nature Portfolio
2020
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oai:doaj.org-article:85fa7763d73b4163bd09f2ee5a5c74a82021-12-02T17:15:59ZMutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity10.1038/s41467-020-16294-62041-1723https://doaj.org/article/85fa7763d73b4163bd09f2ee5a5c74a82020-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-16294-6https://doaj.org/toc/2041-1723Kinesins regulate intracellular transport and microtubule dynamics. Here, the authors show that KIF21B variants in humans associate with corpus callosum agenesis and microcephaly. Using mice and zebrafish, they showed the cellular mechanisms altered by the missense KIF21B variants.Laure AsselinJosé Rivera AlvarezSolveig HeideCamille S. BonnetPeggy TillyHélène VitetChantal WeberCarlos A. BacinoKristin BaranañoAnna ChasseventAmy DameronLaurence FaivreNeil A. HanchardSonal MahidaKirsty McWalterCyril MignotCaroline NavaAgnès RastetterHaley StreffChristel Thauvin-RobinetMarjan M. WeissGladys ZapataPetra J. G. ZwijnenburgFrédéric SaudouChristel DepienneChristelle GolzioDelphine HéronJuliette D. GodinNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-18 (2020) |
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DOAJ |
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EN |
| topic |
Science Q |
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Science Q Laure Asselin José Rivera Alvarez Solveig Heide Camille S. Bonnet Peggy Tilly Hélène Vitet Chantal Weber Carlos A. Bacino Kristin Baranaño Anna Chassevent Amy Dameron Laurence Faivre Neil A. Hanchard Sonal Mahida Kirsty McWalter Cyril Mignot Caroline Nava Agnès Rastetter Haley Streff Christel Thauvin-Robinet Marjan M. Weiss Gladys Zapata Petra J. G. Zwijnenburg Frédéric Saudou Christel Depienne Christelle Golzio Delphine Héron Juliette D. Godin Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity |
| description |
Kinesins regulate intracellular transport and microtubule dynamics. Here, the authors show that KIF21B variants in humans associate with corpus callosum agenesis and microcephaly. Using mice and zebrafish, they showed the cellular mechanisms altered by the missense KIF21B variants. |
| format |
article |
| author |
Laure Asselin José Rivera Alvarez Solveig Heide Camille S. Bonnet Peggy Tilly Hélène Vitet Chantal Weber Carlos A. Bacino Kristin Baranaño Anna Chassevent Amy Dameron Laurence Faivre Neil A. Hanchard Sonal Mahida Kirsty McWalter Cyril Mignot Caroline Nava Agnès Rastetter Haley Streff Christel Thauvin-Robinet Marjan M. Weiss Gladys Zapata Petra J. G. Zwijnenburg Frédéric Saudou Christel Depienne Christelle Golzio Delphine Héron Juliette D. Godin |
| author_facet |
Laure Asselin José Rivera Alvarez Solveig Heide Camille S. Bonnet Peggy Tilly Hélène Vitet Chantal Weber Carlos A. Bacino Kristin Baranaño Anna Chassevent Amy Dameron Laurence Faivre Neil A. Hanchard Sonal Mahida Kirsty McWalter Cyril Mignot Caroline Nava Agnès Rastetter Haley Streff Christel Thauvin-Robinet Marjan M. Weiss Gladys Zapata Petra J. G. Zwijnenburg Frédéric Saudou Christel Depienne Christelle Golzio Delphine Héron Juliette D. Godin |
| author_sort |
Laure Asselin |
| title |
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity |
| title_short |
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity |
| title_full |
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity |
| title_fullStr |
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity |
| title_full_unstemmed |
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity |
| title_sort |
mutations in the kif21b kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/85fa7763d73b4163bd09f2ee5a5c74a8 |
| work_keys_str_mv |
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