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KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism.

作者信息

Soni Videep, LoTurco Joseph J

机构信息

Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT 06266.

出版信息

Proc Natl Acad Sci U S A. 2024 Jul 23;121(30):e2410761121. doi: 10.1073/pnas.2410761121. Epub 2024 Jul 15.

DOI:10.1073/pnas.2410761121
PMID:39008680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11287267/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ca5/11287267/121c773b56c3/pnas.2410761121fig01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ca5/11287267/121c773b56c3/pnas.2410761121fig01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ca5/11287267/121c773b56c3/pnas.2410761121fig01.jpg

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KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism.KATNAL2基因突变将纤毛功能障碍与脑积水和自闭症联系起来。
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Pathogenic variants in autism gene cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.自闭症基因中的致病性变异会导致脑积水，并通过损害纤毛微管动力学来破坏神经元连接。
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Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.Katnal2 的缺失导致小鼠脑室管膜纤毛功能亢进和自闭症相关表型。
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引用本文的文献

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本文引用的文献

1
Pathogenic variants in autism gene cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.自闭症基因中的致病性变异会导致脑积水，并通过损害纤毛微管动力学来破坏神经元连接。
Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121. doi: 10.1073/pnas.2314702121. Epub 2024 Jun 25.
2
Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.Katnal2 的缺失导致小鼠脑室管膜纤毛功能亢进和自闭症相关表型。
PLoS Biol. 2024 May 8;22(5):e3002596. doi: 10.1371/journal.pbio.3002596. eCollection 2024 May.
3
Roles of Ependymal Cells in the Physiology and Pathology of the Central Nervous System.
室管膜细胞在中枢神经系统生理和病理中的作用
Aging Dis. 2023 Apr 1;14(2):468-483. doi: 10.14336/AD.2022.0826-1.
4
PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets.自闭症谱系障碍和先天性脑积水中的 PTEN 突变：发育的多效性和治疗靶点。
Trends Neurosci. 2021 Dec;44(12):961-976. doi: 10.1016/j.tins.2021.08.007. Epub 2021 Oct 5.
5
The Mammalian Family of Katanin Microtubule-Severing Enzymes.katanin微管切断酶的哺乳动物家族
Front Cell Dev Biol. 2021 Aug 3;9:692040. doi: 10.3389/fcell.2021.692040. eCollection 2021.
6
Cutting, Amplifying, and Aligning Microtubules with Severing Enzymes.用切断酶切割、扩增和对齐微管。
Trends Cell Biol. 2021 Jan;31(1):50-61. doi: 10.1016/j.tcb.2020.10.004. Epub 2020 Nov 9.
7
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.人类先天性脑积水相关基因调控神经干细胞命运的新生突变。
Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5.
8
Primary Cilia in Brain Development and Diseases.脑发育与疾病中的初级纤毛
Am J Pathol. 2018 Jan;188(1):11-22. doi: 10.1016/j.ajpath.2017.08.031. Epub 2017 Oct 10.
9
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Katnal1 的错义突变导致行为、神经和纤毛异常。
Mol Psychiatry. 2018 Mar;23(3):713-722. doi: 10.1038/mp.2017.54. Epub 2017 Apr 4.
10
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.靶向测序鉴定出91个具有自闭症和发育障碍倾向的神经发育障碍风险基因。
Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.