Multiple myeloma Leu167Ile (c.499C>A) mutation prevents XBP1 mRNA splicing

HongS.Y.; HagenT.

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Multiple myeloma Leu167Ile (c.499C>A) mutation prevents XBP1 mRNA splicing

机译：多发性骨髓瘤Leu167Ile（c.499C> A）突变可阻止XBP1 mRNA剪接

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The unfolded protein response (UPR) is a cellular protective mechanism to restore homeostasis of the endoplasmic reticu-lum (ER) when misfolded proteins accumulate. There are three key players for sensing ER stress in mammalian cells, namely ATF6, PERK and IREla (Kim et al, 2006). Among these three mediators, IREla is the only conserved sensor from yeast to human (Moreno et al, 2012). Upon activation, IRE1 splices XBP1 mRNA to form an active transcription factor (XBPls). Under unstressed conditions, XBP1 is constitutively transcribed and translated.

机译：未折叠的蛋白质应答（UPR）是一种细胞保护机制，可在错误折叠的蛋白质积累时恢复内质网（ER）的稳态。在哺乳动物细胞中，有3个主要的感受器能感应ER应激，即ATF6，PERK和IREla（Kim等，2006）。在这三种介体中，IREla是唯一从酵母到人的保守传感器（Moreno等，2012）。激活后，IRE1剪接XBP1 mRNA以形成活性转录因子（XBP1）。在不受压力的条件下，XBP1进行组成型转录和翻译。

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《British Journal of Haematology》 |2013年第6期|共4页
作者
HongS.Y.; HagenT.;
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正文语种 eng
中图分类血液及淋巴系疾病;
关键词
Bortezomib; Multiple myeloma; Mutation; Splicing; XBP1;

机译：硼替佐米;多发性骨髓瘤;突变;剪接;XBP1;

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1. Multiple myeloma Leu167Ile (c.499C>A) mutation prevents XBP1 mRNA splicing [J] . HongS.Y., HagenT. British Journal of Haematology . 2013,第6期

机译：多发性骨髓瘤Leu167Ile（c.499C> A）突变可阻止XBP1 mRNA剪接
2. Blockade of XBP1 splicing by inhibition of IRE1α is a promising therapeutic option in multiple myeloma [J] . MimuraN., FulcinitiM., GorgunG., Blood: The Journal of the American Society of Hematology . 2012,第24期

机译：通过抑制IRE1α来阻断XBP1剪接在多发性骨髓瘤中是有希望的治疗选择
3. Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease [J] . Letizia Bocchi, Livia Pisciotta, Tommaso Fasano Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2010,第7a8期

机译：丹吉尔病患者ABCA1基因新的剪接位点突变导致多个异常剪接的ABCA1 mRNA
4. Blocking IL-1 Beta to Prevent Progression to Multiple Myeloma [C] . Lust J. Donovan K. Joint Conferences of the International Cytokine Society and the International Society for Interferon and Cytokine Research . 2011

机译：阻断IL-1β以防止进展到多个骨髓瘤
5. Engineering the sporadic activation of oncogenes in vivo, by somatic hypermutation: Mouse models for lymphomas and multiple myeloma. [D] . Robbiani, Davide Filippo. 2005

机译：通过体细胞超突变工程化体内癌基因的偶然激活：淋巴瘤和多发性骨髓瘤的小鼠模型。
6. Identification of Toyocamycin an agent cytotoxic for multiple myeloma cells as a potent inhibitor of ER stress-induced XBP1 mRNA splicing [O] . M Ri, E Tashiro, D Oikawa, 2012

机译：鉴定Toyocamycin一种对多发性骨髓瘤细胞具有细胞毒性的药物作为ER应激诱导的XBP1 mRNA剪接的有效抑制剂
7. Identification of Toyocamycin, an agent cytotoxic for multiple myeloma cells, as a potent inhibitor of ER stress-induced XBP1 mRNA splicing [O] . M Ri, E Tashiro, D Oikawa, 2012

机译：鉴定多发性骨髓瘤细胞的Tyonocamycin，一种骨髓瘤细胞的药物细胞毒性，作为ER应激诱导的XBP1 mRNA剪接的有效抑制剂

Multiple myeloma Leu167Ile (c.499C>A) mutation prevents XBP1 mRNA splicing

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