Intermediate filaments and disease: mutations that cripple cell strength.
作者信息
Fuchs E
机构信息
Howard Hughes Medical Institute, University of Chicago, Illinois 60637.
出版信息
J Cell Biol. 1994 May;125(3):511-6. doi: 10.1083/jcb.125.3.511.
Abstract
摘要
相似文献
1
Intermediate filaments and disease: mutations that cripple cell strength.中间丝与疾病：削弱细胞强度的突变
J Cell Biol. 1994 May;125(3):511-6. doi: 10.1083/jcb.125.3.511.
2
A structural scaffolding of intermediate filaments in health and disease.健康与疾病状态下中间丝的结构支架
Science. 1998 Jan 23;279(5350):514-9. doi: 10.1126/science.279.5350.514.
3
Genetic skin diseases caused by mutations in keratin intermediate filaments.
Trends Genet. 1993 Aug;9(8):280-4. doi: 10.1016/0168-9525(93)90014-9.
4
Intermediate filament structure.中间丝结构。
Curr Opin Cell Biol. 1992 Feb;4(1):94-8. doi: 10.1016/0955-0674(92)90064-j.
5
Molecular genetics methods for human intermediate filament diseases.人类中间丝疾病的分子遗传学方法
Methods Cell Biol. 2004;78:131-61. doi: 10.1016/s0091-679x(04)78006-1.
6
Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses.角蛋白中间丝中的分子重叠区域与遗传性皮肤病中角蛋白突变位置之间的一致性。
Biochem Biophys Res Commun. 1993 Dec 15;197(2):840-8. doi: 10.1006/bbrc.1993.2555.
7
Alterations of intermediate filaments in various histopathological conditions.
Biochem Cell Biol. 1995 Sep-Oct;73(9-10):627-34. doi: 10.1139/o95-069.
8
Keratin gene mutations in human skin disease.人类皮肤疾病中的角蛋白基因突变。
Postgrad Med J. 1994 Nov;70(829):775-9. doi: 10.1136/pgmj.70.829.775.
9
Diseases of epidermal keratins and their linker proteins.表皮角蛋白及其连接蛋白的疾病。
Exp Cell Res. 2007 Jun 10;313(10):1995-2009. doi: 10.1016/j.yexcr.2007.03.029. Epub 2007 Apr 24.
10
Intermediate filaments and stress.中间丝与应激
Exp Cell Res. 2007 Jun 10;313(10):2244-54. doi: 10.1016/j.yexcr.2007.04.023. Epub 2007 Apr 27.
引用本文的文献
1
Effects of truncations in the N- and C-terminal domains of filensin on filament formation with phakinin in cell-free conditions and cultured cells.Filensin 的 N-和 C-末端结构域缺失对无定形蛋白在无细胞条件下和培养细胞中的纤维形成的影响。
FEBS Open Bio. 2023 Nov;13(11):1990-2004. doi: 10.1002/2211-5463.13700. Epub 2023 Aug 30.
2
Molecular Interactions Driving Intermediate Filament Assembly.分子相互作用驱动中间丝组装。
Cells. 2021 Sep 17;10(9):2457. doi: 10.3390/cells10092457.
3
The Diversity of Intermediate Filaments in Astrocytes.星形胶质细胞中间丝的多样性。
Cells. 2020 Jul 2;9(7):1604. doi: 10.3390/cells9071604.
4
Assembly and turnover of neurofilaments in growing axonal neurites.生长轴突神经突中神经丝的组装与更新
Biol Open. 2018 Jan 26;7(1):bio028795. doi: 10.1242/bio.028795.
5
The high molecular weight neurofilament subunit plays an essential role in axonal outgrowth and stabilization.高分子量神经丝亚单位在轴突生长和稳定中发挥着重要作用。
Biol Open. 2014 Sep 26;3(10):974-81. doi: 10.1242/bio.20149779.
6
Divergent and convergent roles for kinases and phosphatases in neurofilament dynamics.激酶和磷酸酶在神经丝动力学中的发散和收敛作用。
J Cell Sci. 2014 Sep 15;127(Pt 18):4064-77. doi: 10.1242/jcs.153346. Epub 2014 Jul 11.
7
Properties of intermediate filament networks assembled from keratin 8 and 18 in the presence of Mg²+.在镁离子存在的情况下，由角蛋白 8 和 18 组装而成的中间丝网络的性质。
Biophys J. 2012 Jul 18;103(2):195-201. doi: 10.1016/j.bpj.2012.06.014. Epub 2012 Jul 17.
8
Charcot-Marie-Tooth disease and intracellular traffic.Charcot-Marie-Tooth 病与细胞内运输。
Prog Neurobiol. 2012 Dec;99(3):191-225. doi: 10.1016/j.pneurobio.2012.03.003. Epub 2012 Mar 22.
9
Desmoplakin is important for proper cardiac cell-cell interactions.桥粒斑蛋白对于心脏细胞间的正常相互作用很重要。
Microsc Microanal. 2012 Feb;18(1):107-14. doi: 10.1017/S1431927611012359. Epub 2011 Dec 12.
10
Glioma stem/progenitor cells contribute to neovascularization via transdifferentiation.神经胶质瘤干细胞/祖细胞通过转分化促进血管生成。
Stem Cell Rev Rep. 2011 Mar;7(1):141-52. doi: 10.1007/s12015-010-9169-7.
本文引用的文献
1
Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene.神经丝蛋白-L基因无义突变导致鹌鹑神经丝蛋白缺乏。
J Cell Biol. 1993 Apr;121(2):387-95. doi: 10.1083/jcb.121.2.387.
2
Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis.表达人神经丝重链基因的转基因小鼠中的进行性神经病变：肌萎缩侧索硬化症的小鼠模型
Cell. 1993 Apr 9;73(1):35-46. doi: 10.1016/0092-8674(93)90158-m.
3
Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease.神经丝亚基NF-L表达增加会产生类似于人类运动神经元疾病病理学的形态学改变。
Cell. 1993 Apr 9;73(1):23-33. doi: 10.1016/0092-8674(93)90157-l.
4
Intermediate filament structure and assembly.中间丝的结构与组装。
Curr Opin Cell Biol. 1993 Feb;5(1):3-11. doi: 10.1016/s0955-0674(05)80002-x.
5
The rod domain of NF-L determines neurofilament architecture, whereas the end domains specify filament assembly and network formation.神经丝轻链（NF-L）的杆状结构域决定神经丝的结构，而末端结构域则决定丝状体组装和网络形成。
J Cell Biol. 1993 Dec;123(6 Pt 1):1517-33. doi: 10.1083/jcb.123.6.1517.
6
Intermediate filaments: structure, dynamics, function, and disease.中间丝：结构、动力学、功能及疾病
Annu Rev Biochem. 1994;63:345-82. doi: 10.1146/annurev.bi.63.070194.002021.
7
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.单纯性大疱性表皮松解症Weber-Cockayne型的遗传基础。
Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7414-8. doi: 10.1073/pnas.90.15.7414.
8
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.单纯性大疱性表皮松解症（Dowling-Meara型）的角蛋白14突变热点：对诊断的意义
J Invest Dermatol. 1993 Aug;101(2):240-3. doi: 10.1111/1523-1747.ep12365079.
9
Mid-gestational lethality in mice lacking keratin 8.缺乏角蛋白8的小鼠出现中期妊娠致死现象。
Genes Dev. 1993 Jul;7(7A):1191-202. doi: 10.1101/gad.7.7a.1191.
10
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.在一个患有泛发型单纯性大疱性表皮松解症Köbner型的家族中，对角蛋白5基因中亮氨酸至脯氨酸突变的鉴定。
Hum Mutat. 1993;2(2):94-102. doi: 10.1002/humu.1380020206.
Zotero 插件