A novel amino acid substitution of integrin αiIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure

PilloisX.; FioreM.; HeiligR.; PicoM.; NurdenA.T.

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A novel amino acid substitution of integrin αiIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure

机译：Glanzmann血虚症中整合素αiIb的新氨基酸取代证实该受体的N端区域在维持β螺旋桨结构中起作用

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Mutation screening in Glanzmann thrombasthenia (GT) is now advanced. Despite the large number of genetic defects reported in the ITGA2B gene, few affect the structure of the N-terminal domain of the αIIb subunit. We now report a Catalan family where type I GT is given by compound heterozygosity within ITGA2B with a Gly13Val substitution in αIIb associated with a 13 bp deletion involving the splice site of exon 15. Molecular modelling confirmed that the Gly13Val mutation interfered with the structure of the αIIb β-propeller and confirms that a fold-back of the N-terminus to interact with residues deep within the propeller is necessary for the normal intracellular processing of the maturing αIIbβ3 integrin.

机译：格兰兹曼血栓症（GT）的突变筛查现已取得进展。尽管在ITGA2B基因中报告了大量遗传缺陷，但几乎没有影响αIIb亚基N末端结构域的结构。我们现在报告一个加泰罗尼亚族，其中IGT类型由ITGA2B中的化合物杂合性提供，αIIb中的Gly13Val取代与涉及外显子15剪接位点的13 bp缺失相关。分子模型证实Gly13Val突变干扰了Gly13Val的结构。 αIIbβ螺旋桨，并证实N末端的折返与螺旋桨深处的残基相互作用是成熟的αIIbβ3整联蛋白正常细胞内加工所必需的。

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《Platelets》 |2013年第1期|共4页
作者
PilloisX.; FioreM.; HeiligR.; PicoM.; NurdenA.T.;
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正文语种 eng
中图分类基础医学;
关键词
αIIbβ3; Glanzmann thrombasthenia; ITGA2B; Mutation analysis;

机译：αIIbβ3;格兰兹曼性血小板减少症;ITGA2B;突变分析;

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1. A novel amino acid substitution of integrin αiIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure [J] . PilloisX., FioreM., HeiligR., Platelets . 2013,第1期

机译：Glanzmann血虚症中整合素αiIb的新氨基酸取代证实该受体的N端区域在维持β螺旋桨结构中起作用
2. The N-terminal 20-Amino Acid Region of Guanine Nucleotide Exchange Factor Vav1 Plays a Distinguished Role in T Cell Receptor-mediated Calcium Signaling [J] . Shi-Yang Li, Ming-Juan Du, Ya-Juan Wan, The Journal of biological chemistry . 2013,第6期

机译：鸟嘌呤核苷酸交换因子VAV1的N-末端20-氨基酸区在T细胞受体介导的钙信号传导中起着杰出的作用
3. First description of an IgM monoclonal antibody causing (IIb3) integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia [J] . Pillois Xavier, Guy Alexandre, Choquet Emeline, Journal of thrombosis and haemostasis: JTH . 2019,第5期

机译：首先描述引起（IIB3）整合素激活和患有MacrothrombocyTopenia相关的Glanzmann血栓血管素的IgM单克隆抗体
4. A novel synonymous processing method based on amino acid substitution matrics for the classification of G-protein-coupled receptors [C] . Cheng Ling, Yitian Shen, Jingyang Gao IEEE International Conference on Bioinformatics and Biomedicine . 2020

机译：基于氨基酸取代基质的G蛋白偶联受体分类的新型同义加工方法
5. Molecular interplays of membrane receptors in response to mechanical and chemical stimuli: Roles of integrins, Flk-1 and VE-cadherin. [D] . Wang, Yingxiao. 2002

机译：响应机械和化学刺激的膜受体的分子相互作用：整合素，Flk-1和VE-钙黏着蛋白的作用。
6. Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. [O] . D A Wilcox, C M Paddock, S Lyman, 1995

机译：格兰兹曼血栓性衰弱是由GPIIb的第二个和第三个钙结合域之间的单个氨基酸取代引起的。 GPIIb氨基末端在整合素亚基缔合中的作用。
7. Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. [O] . Wilcox, D A, Paddock, C M, Lyman, S, 1995

机译：格兰兹曼血栓性衰弱是由GPIIb的第二个和第三个钙结合域之间的单个氨基酸取代引起的。 GPIIb氨基末端在整合素亚基缔合中的作用。

A novel amino acid substitution of integrin αiIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure

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