DDX41在血液系统恶性肿瘤中作用的临床和机制见解。

IF 3 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
FEBS Letters Pub Date : 2022-11-01 Epub Date: 2022-09-09 DOI:10.1002/1873-3468.14487
Joshua T Weinreb, Teresa V Bowman
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引用次数: 0

摘要

DEAD-box解旋酶41(DDX41)是DExD/H-box解旋酶家族的一员,具有多种细胞功能。值得注意的是,DDX41基因的种系和体细胞突变在髓系恶性肿瘤中普遍存在。在此,我们对DDX41的相关临床、转化和基础科学发现进行了全面的分析综述。我们首先描述了骨髓增生异常综合征患者DDX41突变的初步特征、相关的临床特征和当前的治疗模式。然后,我们介绍了DDX41的已知细胞功能,从它在果蝇中作为神经调节因子的发现,到最近描述的它在炎症信号传导、R环代谢和snoRNA处理中的作用。最后,我们总结了DDX41的基本功能,当受到干扰时,可能会导致血液肿瘤的潜在病理学。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.

DEAD-box Helicase 41 (DDX41) is a member of the DExD/H-box helicase family that has a variety of cellular functions. Of note, germline and somatic mutations in the DDX41 gene are prevalently found in myeloid malignancies. Here, we present a comprehensive and analytic review covering relevant clinical, translational and basic science findings on DDX41. We first describe the initial characterisation of DDX41 mutations in patients affected by myelodysplastic syndromes, their associated clinical characteristics, and current treatment modalities. We then cover the known cellular functions of DDX41, spanning from its discovery in Drosophila as a neuroregulator through its more recently described roles in inflammatory signalling, R-loop metabolism and snoRNA processing. We end with a summary of the identified basic functions of DDX41 that when perturbed may contribute to the underlying pathology of haematologic neoplasms.

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来源期刊
FEBS Letters
FEBS Letters 生物-生化与分子生物学
CiteScore
6.60
自引率
2.90%
发文量
303
审稿时长
1 months
期刊介绍: FEBS Letters is one of the world''s leading journals in molecular biology and is renowned both for its quality of content and speed of production. Bringing together the most important developments in the molecular biosciences, FEBS Letters provides an international forum for Minireviews, Research Letters and Hypotheses that merit urgent publication.
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