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

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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

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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。

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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

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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。

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