由突变型Rho GTP酶鸟嘌呤核苷酸交换因子frabin/FGD4引起的周围神经脱髓鞘。
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
作者信息
Stendel Claudia, Roos Andreas, Deconinck Tine, Pereira Jorge, Castagner Francois, Niemann Axel, Kirschner Janbernd, Korinthenberg Rudolf, Ketelsen Uwe-Peter, Battaloglu Esra, Parman Yesim, Nicholson Garth, Ouvrier Robert, Seeger Jürgen, De Jonghe Peter, Weis Joachim, Krüttgen Alexander, Rudnik-Schöneborn Sabine, Bergmann Carsten, Suter Ueli, Zerres Klaus, Timmerman Vincent, Relvas João B, Senderek Jan
机构信息
Institute of Cell Biology, ETH Zürich, Schafmattstrasse 18, CH-8093 Zürich, Switzerland.
出版信息
Am J Hum Genet. 2007 Jul;81(1):158-64. doi: 10.1086/518770. Epub 2007 May 24.
Abstract
GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated by a set of specific guanine nucleotide exchange factors (GEFs). Here, we report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. These data, together with the ability of frabin to induce Cdc42-mediated cell-shape changes in transfected Schwann cells, suggest that Rho GTPase signaling is essential for proper myelination of the peripheral nervous system.
摘要
Rho亚家族的GTP酶广泛参与脊椎动物神经系统的髓鞘形成。Rho GTP酶活性受到一组特定鸟嘌呤核苷酸交换因子（GEFs）的时空调节。在此，我们报告，frabin/FGD4（一种Rho GTP酶细胞分裂周期42（Cdc42）的GEF）的破坏会导致常染色体隐性遗传性夏科-马里-图斯（CMT）神经病患者出现周围神经脱髓鞘。这些数据，连同frabin在转染的施万细胞中诱导Cdc42介导的细胞形态变化的能力，表明Rho GTP酶信号传导对于周围神经系统的正常髓鞘形成至关重要。
相似文献
1
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.由突变型Rho GTP酶鸟嘌呤核苷酸交换因子frabin/FGD4引起的周围神经脱髓鞘。
Am J Hum Genet. 2007 Jul;81(1):158-64. doi: 10.1086/518770. Epub 2007 May 24.
2
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.髓鞘依赖于施万细胞中的 Ch arcot-Marie-Tooth 型 4H 疾病罪魁祸首蛋白 FRABIN/FGD4。
Brain. 2012 Dec;135(Pt 12):3567-83. doi: 10.1093/brain/aws275. Epub 2012 Nov 20.
3
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.编码Rho GDP/GTP交换因子FRABIN的FGD4基因突变会导致常染色体隐性遗传性腓骨肌萎缩症4H型。
Am J Hum Genet. 2007 Jul;81(1):1-16. doi: 10.1086/518428. Epub 2007 May 15.
4
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.NRG1-ERBB2/3 信号失衡导致 Charcot-Marie-Tooth 病 4H 中的髓鞘形成改变。
Brain. 2023 May 2;146(5):1844-1858. doi: 10.1093/brain/awac402.
5
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.FGD4/frabin基因的突变导致4H型腓骨肌萎缩症的进一步证据。
Neurology. 2009 Mar 31;72(13):1160-4. doi: 10.1212/01.wnl.0000345373.58618.b6.
6
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.一种新型 Frabin（FGD4）突变导致印度患者出现CMT4H 轻度表型。
J Neuromuscul Dis. 2024;11(1):221-232. doi: 10.3233/JND-230042.
7
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.FGD4/FRABIN基因的一种新突变导致来自突尼斯一个近亲家庭的患者患4H型遗传性运动感觉神经病。
Ann Hum Genet. 2013 Jul;77(4):336-43. doi: 10.1111/ahg.12017. Epub 2013 Apr 2.
8
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.一种与遗传性运动感觉神经病4H型（CMT4H）表型变异性相关的新型Frabin（FGD4）无义突变p.R275X 。
Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc.
9
Sustained Expression of Negative Regulators of Myelination Protects Schwann Cells from Dysmyelination in a Charcot-Marie-Tooth 1B Mouse Model.持续表达髓鞘形成的负调节剂可保护施万细胞免受 1B 型腓骨肌萎缩症小鼠模型中的脱髓鞘。
J Neurosci. 2018 May 2;38(18):4275-4287. doi: 10.1523/JNEUROSCI.0201-18.2018. Epub 2018 Apr 2.
10
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.INF2 突变与伴肾小球病的遗传性运动感觉神经病。
N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122.
引用本文的文献
1
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.一种新型 Frabin（FGD4）突变导致印度患者出现CMT4H 轻度表型。
J Neuromuscul Dis. 2024;11(1):221-232. doi: 10.3233/JND-230042.
2
Molecular Mimicry between Meningococcal B Factor H-Binding Protein and Human Proteins.脑膜炎球菌B群因子H结合蛋白与人蛋白之间的分子模拟
Glob Med Genet. 2023 Nov 16;10(4):311-314. doi: 10.1055/s-0043-1776985. eCollection 2023 Dec.
3
Genome-Wide Association Studies for Body Conformation Traits in Korean Holstein Population.韩国荷斯坦牛群体体型性状的全基因组关联研究
Animals (Basel). 2023 Sep 19;13(18):2964. doi: 10.3390/ani13182964.
4
Comprehensive analysis of a pyroptosis-related gene signature of clinical and biological values in spinal cord injury.脊髓损伤中具有临床和生物学价值的细胞焦亡相关基因特征的综合分析
Front Neurol. 2023 May 19;14:1141939. doi: 10.3389/fneur.2023.1141939. eCollection 2023.
5
The systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressed .在超表达的CMT1A小鼠模型中，终末补体系统的全身抑制可减轻神经炎症，但不能改善运动功能。
Curr Res Neurobiol. 2023 Feb 4;4:100077. doi: 10.1016/j.crneur.2023.100077. eCollection 2023.
6
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.NRG1-ERBB2/3 信号失衡导致 Charcot-Marie-Tooth 病 4H 中的髓鞘形成改变。
Brain. 2023 May 2;146(5):1844-1858. doi: 10.1093/brain/awac402.
7
Management of Side Effects in the Personalized Medicine Era: Chemotherapy-Induced Peripheral Neurotoxicity.个体化医学时代的副作用管理：化疗诱导的周围神经毒性。
Methods Mol Biol. 2022;2547:95-140. doi: 10.1007/978-1-0716-2573-6_5.
8
Integrated Analysis of Cortex Single-Cell Transcriptome and Serum Proteome Reveals the Novel Biomarkers in Alzheimer's Disease.皮质单细胞转录组与血清蛋白质组的综合分析揭示阿尔茨海默病新生物标志物
Brain Sci. 2022 Aug 1;12(8):1022. doi: 10.3390/brainsci12081022.
9
Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages.基于土耳其高近亲结婚率的发现，进行的遗传性运动感觉神经病（CMT）临床与基因研究。
Balkan Med J. 2022 Jan 25;39(1):3-11. doi: 10.4274/balkanmedj.galenos.2021.2021-11-13.
10
Peripheral Nerve Development and the Pathogenesis of Peripheral Neuropathy: the Sorting Point.周围神经发育与周围神经病发病机制：分类点。
Neurotherapeutics. 2021 Oct;18(4):2156-2168. doi: 10.1007/s13311-021-01080-z. Epub 2021 Jul 9.
本文引用的文献
1
Cdc42 and Rac1 signaling are both required for and act synergistically in the correct formation of myelin sheaths in the CNS.Cdc42和Rac1信号传导对于中枢神经系统中髓鞘的正确形成都是必需的，并且具有协同作用。
J Neurosci. 2006 Oct 4;26(40):10110-9. doi: 10.1523/JNEUROSCI.2158-06.2006.
2
Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).施万细胞与遗传性运动和感觉神经病（夏科-马里-图斯病）的发病机制
Glia. 2006 Sep;54(4):243-57. doi: 10.1002/glia.20386.
3
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.夏科-马里-图思病中突变蛋白的发病机制
Neuromolecular Med. 2006;8(1-2):217-42. doi: 10.1385/nmm:8:1-2:217.
4
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.常染色体隐性遗传性脱髓鞘型夏科-马里-图斯病
Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75.
5
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.肌管素相关蛋白13/SET结合因子2对肌管素相关蛋白2磷酸酶活性的多级调控
Hum Mol Genet. 2006 Feb 15;15(4):569-79. doi: 10.1093/hmg/ddi473. Epub 2006 Jan 6.
6
The origin and development of glial cells in peripheral nerves.周围神经中神经胶质细胞的起源与发育。
Nat Rev Neurosci. 2005 Sep;6(9):671-82. doi: 10.1038/nrn1746.
7
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.常染色体隐性脱髓鞘性夏科-马里-图斯神经病（CMT4H）的纯合子定位到12号染色体p11.21-q13.11上的一个新位点。
J Med Genet. 2005 Mar;42(3):260-5. doi: 10.1136/jmg.2004.024364.
8
Involvement of Cdc42 and Rac small G proteins in invadopodia formation of RPMI7951 cells.Cdc42和Rac小G蛋白参与RPMI7951细胞侵袭性伪足的形成。
Genes Cells. 2003 Dec;8(12):1019-27. doi: 10.1111/j.1365-2443.2003.00695.x.
9
Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module.与肌管素相关蛋白2的膜结合由一个普列克底物蛋白同源结构域-GRAM结构域和一个卷曲螺旋二聚化模块介导。
Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12177-82. doi: 10.1073/pnas.2132732100. Epub 2003 Oct 6.
10
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.与突变型rho鸟嘌呤核苷酸交换因子10相关的外周神经传导减慢和髓鞘变薄。
Am J Hum Genet. 2003 Oct;73(4):926-32. doi: 10.1086/378159. Epub 2003 Aug 19.
Zotero 插件