文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
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
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
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 @ 2025

通道病集中在 TRPV4 上。

Channelopathies converge on TRPV4.

出版信息

Nat Genet. 2010 Feb;42(2):98-100. doi: 10.1038/ng0210-98.

DOI:10.1038/ng0210-98
PMID:20104247
Abstract

Scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are inherited neurodegenerative diseases characterized by sensory defects and muscle weakness. Three new studies demonstrate that they are allelic disorders caused by mutations in the vanilloid transient receptor potential cation-channel gene TRPV4.

摘要

肩腓型脊肌萎缩症和 2C 型腓骨肌萎缩症是两种遗传性神经退行性疾病，其特征为感觉缺陷和肌肉无力。三项新研究表明，它们是由香草素瞬时受体电位阳离子通道基因 TRPV4 突变引起的等位基因疾病。

相似文献

[1]
Channelopathies converge on TRPV4.

Nat Genet. 2010-2

[2]
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Nat Genet. 2009-12-27

[3]
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Nat Genet. 2009-12-27

[4]
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.

BMC Neurol. 2023-6-30

[5]
Phenotypic variability of TRPV4 related neuropathies.

Neuromuscul Disord. 2015-6

[6]
TRPV4-mediated channelopathies.

Channels (Austin). 2010-7-6

[7]
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.

Neuromolecular Med. 2020-3

[8]
The puzzle of TRPV4 channelopathies.

EMBO Rep. 2013-1-11

[9]
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Nat Genet. 2009-12-27

[10]
TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂.

Nat Commun. 2014-9-26

引用本文的文献

[1]
A QUARTER CENTURY OF CALCIUM-PERMEABLE ION CHANNEL, TRPV4: PERSPECTIVES ON EXPRESSION AND FUNCTION IN ENDOTHELIAL CELLS-TIME TO TRANSLATE.

Trans Am Clin Climatol Assoc. 2025

[2]
Regulation of Neural Functions by Brain Temperature and Thermo-TRP Channels.

Adv Exp Med Biol. 2024

[3]
Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients.

Function (Oxf). 2024-9-10

[4]
Structural Pharmacology of TRPV4 Antagonists.

Adv Sci (Weinh). 2024-7

[5]
Recent advances on the structure and the function relationships of the TRPV4 ion channel.

Channels (Austin). 2024-12

[6]
Targeting TRP channels: recent advances in structure, ligand binding, and molecular mechanisms.

Front Mol Neurosci. 2024-1-11

[7]
Pathophysiological Roles of the TRPV4 Channel in the Heart.

Cells. 2023-6-17

[8]
Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism.

Mol Psychiatry. 2022-4

[9]
Overactive Bladder Symptoms Within Nervous System: A Focus on Etiology.

Front Physiol. 2021-12-10

[10]
TRPM8 Channel Promotes the Osteogenic Differentiation in Human Bone Marrow Mesenchymal Stem Cells.

Front Cell Dev Biol. 2021-2-4

本文引用的文献

[1]
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Nat Genet. 2009-12-27

[2]
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Nat Genet. 2009-12-27

[3]
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Nat Genet. 2009-12-27

[4]
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Am J Hum Genet. 2009-3

[5]
Transient receptor potential channels meet phosphoinositides.

EMBO J. 2008-11-5

[6]
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Nat Genet. 2008-8

[7]
N-((1S)-1-{[4-((2S)-2-{[(2,4-dichlorophenyl)sulfonyl]amino}-3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl)-1-benzothiophene-2-carboxamide (GSK1016790A), a novel and potent transient receptor potential vanilloid 4 channel agonist induces urinary bladder contraction and hyperactivity: Part I.

J Pharmacol Exp Ther. 2008-8

[8]
Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels.

Biochemistry. 2008-2-26

[9]
Transient receptor potential cation channels in disease.

Physiol Rev. 2007-1

[10]
Structure-function relationship of the TRP channel superfamily.

Rev Physiol Biochem Pharmacol. 2006

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索