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Comment
. 2023 Apr;28(4):1400-1401.
doi: 10.1038/s41380-023-01965-9.

The OTUD7A-Ankyrin pathway: a newly identified disease mechanism for the 15q13.3 microdeletion disorder

Nicky Scheefhals  1 , Ummi Ciptasari  1 , Eline J H van Hugte  1 , Nael Nadif Kasri  2
Affiliations
Comment

The OTUD7A-Ankyrin pathway: a newly identified disease mechanism for the 15q13.3 microdeletion disorder

Nicky Scheefhals et al. Mol Psychiatry. 2023 Apr.
No abstract available

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References

    1. Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, et al. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and 2 human models of the 15q13.3 microdeletion syndrome 3. Mol Psychiatry. 2022. Online ahead of print.
    1. Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, et al. A large data resource of genomic copy number variation across neurodevelopmental disorders. npj Genom Med. 2019;4:1–13. - DOI
    1. van Bon BWM, Mefford HC, de Vries BBA, Schaaf CP. in GeneReviews. University of Washington, Seattle Copyright © 1993–2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved., 1993.
    1. Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, et al. OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome. Am J Hum Genet. 2018;102:278–95. - DOI - PubMed - PMC
    1. Kozlova A, Zhang S, Kotlar AV, Jamison B, Zhang H, Shi S, et al. Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons. Am J Hum Genet. 2022;109:1500–19. - DOI - PubMed - PMC

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