Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

Authors

Tyrone DeSpenza, Yale University
Shujuan Zhao, Washington University School of Medicine in St. Louis
Sheng Chih Jin, Washington University School of Medicine in St. Louis
et al.

Journal

Proceedings of the National Academy of Sciences of the United States of America

Publication Date

7-2-2024

Volume

121

Issue

27

First Page

e2314702121

Document Type

Open Access Publication

DOI

10.1073/pnas.2314702121

Rights and Permissions

DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121. doi: 10.1073/pnas.2314702121 Copyright © 2024 the Author(s). Published by PNAS. This article is distributed under Creative CommonsAttribution- NonCommercial-NoDerivatives License 4.0(CC BY- NC- ND).

Recommended Citation

DeSpenza, Tyrone; Zhao, Shujuan; Jin, Sheng Chih; and et al., "Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics." Proceedings of the National Academy of Sciences of the United States of America. 121, 27. e2314702121 (2024).
https://digitalcommons.wustl.edu/oa_4/3887

Department

ICTS (Institute of Clinical and Translational Sciences)

Additional Links

Supplemental material is available for this article at publisher site.