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Channels (Austin). 2019 Dec;13(1):33-35. doi: 10.1080/19336950.2018.1557470.
2
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.TMEM16E/ANO5 基因突变与骨发育不良或肌肉萎缩症有关,会对脂质翻转产生相反的影响。
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Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.TMEM16E/ANO5 活性混乱的功能获得,该突变与颌骨-骨干发育不良相关。
Cell Mol Life Sci. 2018 May;75(9):1657-1670. doi: 10.1007/s00018-017-2704-9. Epub 2017 Nov 9.
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Regulation of TMEM16A/ANO1 and TMEM16F/ANO6 ion currents and phospholipid scrambling by Ca and plasma membrane lipid.钙离子和质膜脂质对 TMEM16A/ANO1 和 TMEM16F/ANO6 离子流及磷脂翻转的调节。
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Proc Natl Acad Sci U S A. 2017 Jun 13;114(24):6274-6279. doi: 10.1073/pnas.1703391114. Epub 2017 May 30.
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Subdued is a moonlighting transmembrane protein 16 (TMEM16) that transports ions and phospholipids.SUBMUCIN 1 是一种具有潜在作用的跨膜蛋白 16(TMEM16),它可以转运离子和磷脂。
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Out-of-the-groove transport of lipids by TMEM16 and GPCR scramblases.TMEM16 和 GPCR 翻转酶对脂质的轨道外转运。
Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):E7033-E7042. doi: 10.1073/pnas.1806721115. Epub 2018 Jun 20.
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An ancestral TMEM16 homolog from Dictyostelium discoideum forms a scramblase.来自盘基网柄菌的一个祖先TMEM16同源物形成一种翻转酶。
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The allosteric mechanism leading to an open-groove lipid conductive state of the TMEM16F scramblase.导致 TMEM16F scramblase 形成开沟脂质传导状态的变构机制。
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Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles.通过患病和健康肌肉中的差异基因表达谱解析肢带型肌营养不良症 LGMD-R12 的退行性过程的分子基础。
Cells. 2022 Apr 30;11(9):1508. doi: 10.3390/cells11091508.
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Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits.ANOCTAMIN 5 敲除小鼠模型再现 LGMD2L 肌肉病理,并深入了解体内功能缺陷。
J Neuromuscul Dis. 2021;8(s2):S243-S255. doi: 10.3233/JND-210720.
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Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.与肌病和颌骨干发育异常相关的常染色体显性ANO5相关疾病。
Neurol Genet. 2021 Jul 16;7(4):e612. doi: 10.1212/NXG.0000000000000612. eCollection 2021 Aug.
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Prediction of Functional Consequences of Missense Mutations in ANO4 Gene.ANO4 基因中错义突变的功能后果预测。
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Membrane lipids are both the substrates and a mechanistically responsive environment of TMEM16 scramblase proteins.膜脂既是 TMEM16 scramblase 蛋白的底物,也是其机械响应环境。
J Comput Chem. 2020 Mar 5;41(6):538-551. doi: 10.1002/jcc.26105. Epub 2019 Nov 21.
7
Dynamic modulation of the lipid translocation groove generates a conductive ion channel in Ca-bound nhTMEM16.在 Ca2+结合 nhTMEM16 时,脂质转位沟的动态调节产生了一个导电离子通道。
Nat Commun. 2019 Oct 31;10(1):4972. doi: 10.1038/s41467-019-12865-4.

本文引用的文献

1
Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion.ANOCTAMIN 5/TMEM16E 促进肌肉前体细胞融合。
J Gen Physiol. 2018 Nov 5;150(11):1498-1509. doi: 10.1085/jgp.201812097. Epub 2018 Sep 26.
2
Known structures and unknown mechanisms of TMEM16 scramblases and channels.TMEM16 型 scramblases 和通道的已知结构和未知机制。
J Gen Physiol. 2018 Jul 2;150(7):933-947. doi: 10.1085/jgp.201711957. Epub 2018 Jun 18.
3
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.TMEM16E/ANO5 活性混乱的功能获得,该突变与颌骨-骨干发育不良相关。
Cell Mol Life Sci. 2018 May;75(9):1657-1670. doi: 10.1007/s00018-017-2704-9. Epub 2017 Nov 9.
4
A Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility.携带翻转结构域的TMEM16E在精子运动中的作用。
Mol Cell Biol. 2015 Dec 14;36(4):645-59. doi: 10.1128/MCB.00919-15. Print 2016 Feb 15.
5
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.与TMEM16F/ANO6亚型表达相关的离子通道和脂质翻转酶活性。
J Physiol. 2015 Sep 1;593(17):3829-48. doi: 10.1113/JP270691. Epub 2015 Jul 27.
6
Identification of a lipid scrambling domain in ANO6/TMEM16F.ANO6/TMEM16F中脂质翻转结构域的鉴定。
Elife. 2015 Jun 9;4:e06901. doi: 10.7554/eLife.06901.
7
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.假定的钙激活氯离子通道蛋白 ANOCTAMIN 5 的隐性突变导致近端 LGMD2L 和远端 MMD3 型肌营养不良症。
Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi: 10.1016/j.ajhg.2009.12.013. Epub 2010 Jan 21.
8
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.GDD1/TMEM16E的分子特征,该基因产物与常染色体显性颌骨干发育异常有关。
Biochem Biophys Res Commun. 2007 May 25;357(1):126-32. doi: 10.1016/j.bbrc.2007.03.108. Epub 2007 Mar 28.
9
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).一种编码假定跨膜蛋白的新基因在颌骨干骺端发育异常(GDD)中发生突变。
Am J Hum Genet. 2004 Jun;74(6):1255-61. doi: 10.1086/421527. Epub 2004 Apr 29.

Lifting the veils on TMEM16E function.

作者信息

Boccaccio Anna, Di Zanni Eleonora, Gradogna Antonella, Scholz-Starke Joachim

机构信息

a Institute of Biophysics , Consiglio Nazionale delle Ricerche (CNR) , Genova , Italy.

出版信息

Channels (Austin). 2019 Dec;13(1):33-35. doi: 10.1080/19336950.2018.1557470.

DOI:10.1080/19336950.2018.1557470
PMID:30672373
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6380213/
Abstract
摘要