严重非典型遗传性球形红细胞增多症中的部分锚蛋白和血影蛋白缺乏 - Suppr

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超能文献

Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis.

作者信息

Coetzer T L, Lawler J, Liu S C, Prchal J T, Gualtieri R J, Brain M C, Dacie J V, Palek J

机构信息

Department of Biomedical Research, St. Elizabeth's Hospital, Boston, MA 02135.

出版信息

N Engl J Med. 1988 Jan 28;318(4):230-4. doi: 10.1056/NEJM198801283180407.

DOI:10.1056/NEJM198801283180407

PMID:2961992

Abstract

摘要

相似文献

Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis.严重非典型遗传性球形红细胞增多症中的部分锚蛋白和血影蛋白缺乏

N Engl J Med. 1988 Jan 28;318(4):230-4. doi: 10.1056/NEJM198801283180407.

Spectrin and spherocytosis.血影蛋白与球形红细胞症

N Engl J Med. 1982 May 13;306(19):1170-1. doi: 10.1056/NEJM198205133061909.

Deficient red-cell spectrin in severe, recessively inherited spherocytosis.严重隐性遗传性球形红细胞增多症中红细胞血影蛋白缺乏

N Engl J Med. 1982 May 13;306(19):1155-61. doi: 10.1056/NEJM198205133061906.

Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases.显性遗传性球形红细胞增多症中的锚蛋白缺乏症：三例报告。

Br J Haematol. 1991 Aug;78(4):551-4. doi: 10.1111/j.1365-2141.1991.tb04487.x.

Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin.严重遗传性球形红细胞增多症中血影蛋白和锚蛋白缺陷的分子基础：提示锚蛋白原发性缺陷的证据

Blood. 1991 Jan 1;77(1):165-73.

[Application of 2 electrophoresis techniques to the analysis of erythrocyte membrane proteins in hereditary spherocytosis].[两种电泳技术在遗传性球形红细胞增多症红细胞膜蛋白分析中的应用]

Sangre (Barc). 1993 Oct;38(5):393-7.

Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients.160 例葡萄牙遗传性球形红细胞增多症患者的红细胞膜蛋白不稳定与临床结局。

Br J Haematol. 2010 Jun;149(5):785-94. doi: 10.1111/j.1365-2141.2010.08166.x. Epub 2010 Mar 21.

Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil.巴西遗传性球形红细胞增多症中的红细胞膜蛋白异常

Br J Haematol. 1994 Oct;88(2):295-9. doi: 10.1111/j.1365-2141.1994.tb05021.x.

A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis.在一个患有遗传性球形红细胞增多症的家族中，蛋白质4.1与血影蛋白结合存在基因缺陷。

N Engl J Med. 1982 Nov 25;307(22):1367-74. doi: 10.1056/NEJM198211253072203.

[Erythrocyte membrane and hereditary spherocytosis].[红细胞膜与遗传性球形红细胞增多症]

Rinsho Byori. 1990 Apr;38(4):360-4.

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Ankyrin-R regulates fast-spiking interneuron excitability through perineuronal nets and Kv3.1b K channels.锚蛋白-R 通过周围神经网和 Kv3.1b K 通道调节快速放电中间神经元的兴奋性。

Elife. 2021 Jun 28;10:e66491. doi: 10.7554/eLife.66491.

Ankyrins and neurological disease.锚蛋白和神经疾病。

Curr Opin Neurobiol. 2021 Aug;69:51-57. doi: 10.1016/j.conb.2021.01.002. Epub 2021 Jan 21.

β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.β-III 血影蛋白在浦肯野细胞树突中支持锚蛋白R的功能：与SCA5相关的突变会损害对钠通道活性至关重要的蛋白质复合物。

Hum Mol Genet. 2014 Jul 15;23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6.

Identification of contact sites between ankyrin and band 3 in the human erythrocyte membrane.鉴定人红细胞膜上锚蛋白与带 3 蛋白的结合位点。

Biochemistry. 2012 Aug 28;51(34):6838-46. doi: 10.1021/bi300693k. Epub 2012 Aug 14.

The M18 aspartyl aminopeptidase of Plasmodium falciparum binds to human erythrocyte spectrin in vitro.恶性疟原虫的M18天冬氨酰氨肽酶在体外与人红细胞血影蛋白结合。

Malar J. 2008 Aug 22;7:161. doi: 10.1186/1475-2875-7-161.

An 11-amino acid beta-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes.带3蛋白胞质结构域中的一个11个氨基酸的β-发夹环负责小鼠红细胞中锚蛋白的结合。

Proc Natl Acad Sci U S A. 2007 Aug 28;104(35):13972-7. doi: 10.1073/pnas.0706266104. Epub 2007 Aug 22.

Isoforms of ankyrin-3 that lack the NH2-terminal repeats associate with mouse macrophage lysosomes.缺乏氨基末端重复序列的锚蛋白-3同工型与小鼠巨噬细胞溶酶体相关联。

J Cell Biol. 1997 Mar 10;136(5):1059-70. doi: 10.1083/jcb.136.5.1059.

Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.与致死性和近乎致死性新生儿溶血性贫血相关的βI血影蛋白高度保守残基的突变。

J Clin Invest. 1997 Jan 15;99(2):267-77. doi: 10.1172/JCI119155.

Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.β-血影蛋白达勒姆型血影蛋白缺乏的分子基础。β-血影蛋白中靠近锚蛋白结合位点处的一个缺失，使得遗传性球形红细胞增多症中血影蛋白无法附着于细胞膜。

J Clin Invest. 1995 Dec;96(6):2623-9. doi: 10.1172/JCI118327.

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