KATNAL2基因突变将纤毛功能障碍与脑积水和自闭症联系起来。 - Suppr

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超能文献

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

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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.

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.

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.

Cutting, Amplifying, and Aligning Microtubules with Severing Enzymes.用切断酶切割、扩增和对齐微管。

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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。

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Primary Cilia in Brain Development and Diseases.脑发育与疾病中的初级纤毛

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