涉及血影蛋白异二聚体接触位点的突变：临床表型及特定功能改变 - Suppr

Suppr

超能文献

Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function.

作者信息

Delaunay J, Dhermy D

机构信息

Faculté de Médecine Grange-Blanche, Institut Pasteur de Lyon, France.

出版信息

Semin Hematol. 1993 Jan;30(1):21-33.

PMID:8434258

Abstract

摘要

相似文献

Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function.涉及血影蛋白异二聚体接触位点的突变：临床表型及特定功能改变

Semin Hematol. 1993 Jan;30(1):21-33.

Spectrin oligomerization is cooperatively coupled to membrane assembly: a linkage targeted by many hereditary hemolytic anemias?血影蛋白寡聚化与膜组装协同偶联：这是许多遗传性溶血性贫血所针对的一种联系吗？

Exp Mol Pathol. 2001 Jun;70(3):215-30. doi: 10.1006/exmp.2001.2377.

Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.涉及血影蛋白异二聚体自缔合位点的α血影蛋白突变的结构和功能异质性：与纯合子遗传性椭圆形红细胞增多症和遗传性热异形红细胞增多症血液学表现的关系

Blood. 1990 Jun 1;75(11):2235-44.

Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.血影蛋白阿纳斯塔西娅（αI/78）：一种具有中度椭圆形红细胞生成潜能的新型血影蛋白变体（α45位精氨酸→苏氨酸）

Br J Haematol. 1995 Apr;89(4):933-6.

Abnormal tryptic peptide from the spectrin alpha-chain resulting from alpha- or beta-chain mutations: two genetically distinct forms of the Sp alpha I/74 variant.由α链或β链突变导致的血影蛋白α链异常胰蛋白酶肽段：SpαI/74变体的两种遗传上不同的形式。

Br J Haematol. 1990 Nov;76(3):406-13. doi: 10.1111/j.1365-2141.1990.tb06376.x.

Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.遗传性椭圆形红细胞增多症中三个新的血影蛋白α I/74突变的鉴定：对血影蛋白异二聚体接触位点的三链折叠单元模型的进一步支持

Blood. 1994 Jul 1;84(1):303-8.

Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.血影蛋白詹杜巴：一种αII/31血影蛋白变体，与椭圆形红细胞增多症相关，且携带一个远离二聚体自我结合位点的突变。

Blood. 1992 Aug 1;80(3):809-15.

Spectrin genes in health and disease.健康与疾病中的血影蛋白基因。

Semin Hematol. 1993 Jan;30(1):4-20.

Expression of spectrin mutations as a function of their topography.血影蛋白突变的表达与其拓扑结构的关系。

Biochem Soc Trans. 1992 Nov;20(4):782-5. doi: 10.1042/bst0200782.

Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis.一例遗传性椭圆形红细胞增多症中α-和β-血影蛋白基因突变的共同遗传

Blood. 1998 Dec 1;92(11):4481-2.

引用本文的文献

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.遗传性椭圆形红细胞增多症一家系的临床和分子遗传学分析：由 EPB41 基因突变引起。

J Clin Lab Anal. 2021 Jun;35(6):e23781. doi: 10.1002/jcla.23781. Epub 2021 May 4.

The Spectrinome: The Interactome of a Scaffold Protein Creating Nuclear and Cytoplasmic Connectivity and Function.血影蛋白组：支架蛋白的相互作用组，构建核质连接和功能。

Exp Biol Med (Maywood). 2019 Nov;244(15):1273-1302. doi: 10.1177/1535370219867269. Epub 2019 Sep 4.

Probing large conformational rearrangements in wild-type and mutant spectrin using structural mass spectrometry.使用结构质谱法探测野生型和突变血影蛋白中的大构象重排。

Proc Natl Acad Sci U S A. 2014 Feb 4;111(5):1801-6. doi: 10.1073/pnas.1317620111. Epub 2014 Jan 22.

The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation.常见遗传性椭圆形红细胞增多症相关的α-血影蛋白 L260P 突变通过稳定血影蛋白处于关闭二聚体构象来扰乱红细胞膜。

Blood. 2013 Oct 24;122(17):3045-53. doi: 10.1182/blood-2013-02-487702. Epub 2013 Aug 23.

Structural and dynamic study of the tetramerization region of non-erythroid alpha-spectrin: a frayed helix revealed by site-directed spin labeling electron paramagnetic resonance.非红细胞α-血影蛋白四聚化区域的结构与动力学研究：定点自旋标记电子顺磁共振揭示的磨损螺旋

Biochemistry. 2009 Jan 13;48(1):206-15. doi: 10.1021/bi8013032.

Red cell membrane: past, present, and future.红细胞膜：过去、现在与未来。

Blood. 2008 Nov 15;112(10):3939-48. doi: 10.1182/blood-2008-07-161166.

Conformational changes at the tetramerization site of erythroid alpha-spectrin upon binding beta-spectrin: a spin label EPR study.结合β-血影蛋白时红系α-血影蛋白四聚化位点的构象变化：自旋标记电子顺磁共振研究

Biochemistry. 2008 Oct 7;47(40):10765-72. doi: 10.1021/bi800840p. Epub 2008 Sep 11.

Conformational change of erythroid alpha-spectrin at the tetramerization site upon binding beta-spectrin.与β-血影蛋白结合时，红系α-血影蛋白在四聚化位点处的构象变化。

Protein Sci. 2007 Nov;16(11):2519-30. doi: 10.1110/ps.073115307. Epub 2007 Sep 28.

Organization and dynamics of tryptophan residues in erythroid spectrin: novel structural features of denatured spectrin revealed by the wavelength-selective fluorescence approach.红细胞血影蛋白中色氨酸残基的组织与动力学：波长选择性荧光方法揭示的变性血影蛋白的新结构特征

Protein Sci. 2003 Nov;12(11):2389-403. doi: 10.1110/ps.03302003.

Developmental expression of spectrins in rat skeletal muscle.血影蛋白在大鼠骨骼肌中的发育表达。

Mol Biol Cell. 1998 Jan;9(1):47-61. doi: 10.1091/mbc.9.1.47.

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