• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.

作者信息

Gupta Harsh V, Vengoechea Jaime, Sahaya Kinshuk, Virmani Tuhin

机构信息

Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR 72205, USA.

Division of Genetics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.

出版信息

Parkinsonism Relat Disord. 2015 Dec;21(12):1473-5. doi: 10.1016/j.parkreldis.2015.10.001. Epub 2015 Oct 8.

DOI:10.1016/j.parkreldis.2015.10.001
PMID:26467484
Abstract
摘要

相似文献

1
A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.ATP6AP2基因的剪接位点突变会导致X连锁智力障碍、癫痫和帕金森症。
Parkinsonism Relat Disord. 2015 Dec;21(12):1473-5. doi: 10.1016/j.parkreldis.2015.10.001. Epub 2015 Oct 8.
2
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).ATP6AP2 剪接改变导致伴痉挛的 X 连锁帕金森病（XPDS）。
Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16.
3
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.基因剂量降低是由 ATP6AP2 剪接突变引起的神经病理学的常见机制。
Parkinsonism Relat Disord. 2022 Aug;101:31-38. doi: 10.1016/j.parkreldis.2022.06.015. Epub 2022 Jun 24.
4
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.一个患有X连锁智力迟钝和癫痫的家族中存在一种独特的外显子剪接增强子突变，这表明肾素受体具有新的作用。
Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3.
5
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.智力残疾和帕金森病候选基因ATP6AP2在果蝇和小鼠中的条件性缺失会诱发认知障碍和神经退行性变。
Hum Mol Genet. 2015 Dec 1;24(23):6736-55. doi: 10.1093/hmg/ddv380. Epub 2015 Sep 16.
6
Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.博耶森-福斯曼-莱曼综合征的发病机制：来自PHF6功能的见解。
Neurobiol Dis. 2016 Dec;96:227-235. doi: 10.1016/j.nbd.2016.09.011. Epub 2016 Sep 12.
7
Neuroradiological findings in the northern epilepsy syndrome.
Acta Neurol Scand. 1994 Dec;90(6):388-93. doi: 10.1111/j.1600-0404.1994.tb02746.x.
8
Mutations in the X-linked cause a glycosylation disorder with autophagic defects.X连锁基因突变会导致一种伴有自噬缺陷的糖基化障碍。
J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10.
9
Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.尽管基因型相同，但X连锁肌酸转运体缺乏症家族中的可变白质萎缩与智力发育
Pediatr Neurol. 2017 Feb;67:45-52. doi: 10.1016/j.pediatrneurol.2016.10.007. Epub 2016 Oct 17.
10
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.新的从头突变证实 ATP6V0C 是导致伴智力障碍的癫痫的基因。
Brain Dev. 2021 Mar;43(3):490-494. doi: 10.1016/j.braindev.2020.10.016. Epub 2020 Nov 13.

引用本文的文献

1
TBC1D24 interacts with the v-ATPase and regulates intraorganellar pH in neurons.TBC1D24与液泡型ATP酶相互作用并调节神经元内细胞器的pH值。
iScience. 2024 Dec 1;28(1):111515. doi: 10.1016/j.isci.2024.111515. eCollection 2025 Jan 17.
2
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.一个具有不同祖先背景队列中自闭症谱系障碍的遗传图谱。
NPJ Genom Med. 2024 Dec 4;9(1):62. doi: 10.1038/s41525-024-00444-6.
3
X-Linked Epilepsies: A Narrative Review.X 连锁癫痫：叙述性综述。
Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110.
4
X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.X 连锁左旋多巴反应性帕金森病癫痫综合征：一种新的 PGK1 突变及文献复习。
Mov Disord Clin Pract. 2024 May;11(5):556-566. doi: 10.1002/mdc3.13992. Epub 2024 Feb 11.
5
Synonymous variants in the gene may lead to developmental and epileptic encephalopathy.该基因中的同义变异可能导致发育性和癫痫性脑病。
Front Neurol. 2024 Jan 11;14:1320514. doi: 10.3389/fneur.2023.1320514. eCollection 2023.
6
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.儿童期起病的癫痫和发育性癫痫性脑病后继发早发性帕金森病。
Int J Mol Sci. 2023 Feb 14;24(4):3796. doi: 10.3390/ijms24043796.
7
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.对与智力残疾相关的罕见病基因进行大规模功能评估，揭示了小鼠模型中独特的发育和行为特征。
Biomedicines. 2022 Dec 6;10(12):3148. doi: 10.3390/biomedicines10123148.
8
A rigorous genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.对1p13.3进行的严格基因组检测揭示了综合征性神经发育障碍中的16个常染色体显性候选基因。
Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061. eCollection 2022.
9
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.ATP6V0C 变异会损害 V-ATPase 的功能，导致一种神经发育障碍，这种障碍通常与癫痫有关。
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
10
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.基因剂量降低是由 ATP6AP2 剪接突变引起的神经病理学的常见机制。
Parkinsonism Relat Disord. 2022 Aug;101:31-38. doi: 10.1016/j.parkreldis.2022.06.015. Epub 2022 Jun 24.