哺乳动物内质网相关蛋白降解的遗传破坏:人类表型和动物及细胞疾病模型。

IF 3.6 3区 生物学 Q3 CELL BIOLOGY Traffic Pub Date : 2023-08-01 DOI:10.1111/tra.12902
Sally Badawi, Feda E Mohamed, Divya Saro Varghese, Bassam R Ali
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引用次数: 0

摘要

内质网相关蛋白降解(ERAD)是一种严格的质量控制机制,通过这种机制,错误折叠、不组装和一些天然蛋白被降解,以维持适当的细胞和细胞器稳态。一些体外和体内与ERAD相关的研究已经提供了ERAD通路激活及其后续事件的机制见解;然而,其中大多数研究都研究了ERAD底物的影响及其随后影响降解过程的疾病。在这篇综述中,我们介绍了所有报道的人类单基因疾病,这些疾病是由编码ERAD成分的基因而不是其底物的遗传变异引起的。此外,经过广泛的文献调查,我们提出了各种基因操纵的高等细胞和哺乳动物模型,这些模型缺乏参与ERAD途径各个阶段的特定成分。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Genetic disruption of mammalian endoplasmic reticulum-associated protein degradation: Human phenotypes and animal and cellular disease models.

Endoplasmic reticulum-associated protein degradation (ERAD) is a stringent quality control mechanism through which misfolded, unassembled and some native proteins are targeted for degradation to maintain appropriate cellular and organelle homeostasis. Several in vitro and in vivo ERAD-related studies have provided mechanistic insights into ERAD pathway activation and its consequent events; however, a majority of these have investigated the effect of ERAD substrates and their consequent diseases affecting the degradation process. In this review, we present all reported human single-gene disorders caused by genetic variation in genes that encode ERAD components rather than their substrates. Additionally, after extensive literature survey, we present various genetically manipulated higher cellular and mammalian animal models that lack specific components involved in various stages of the ERAD pathway.

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来源期刊
Traffic
Traffic 生物-细胞生物学
CiteScore
8.10
自引率
2.20%
发文量
50
审稿时长
2 months
期刊介绍: Traffic encourages and facilitates the publication of papers in any field relating to intracellular transport in health and disease. Traffic papers span disciplines such as developmental biology, neuroscience, innate and adaptive immunity, epithelial cell biology, intracellular pathogens and host-pathogen interactions, among others using any eukaryotic model system. Areas of particular interest include protein, nucleic acid and lipid traffic, molecular motors, intracellular pathogens, intracellular proteolysis, nuclear import and export, cytokinesis and the cell cycle, the interface between signaling and trafficking or localization, protein translocation, the cell biology of adaptive an innate immunity, organelle biogenesis, metabolism, cell polarity and organization, and organelle movement. All aspects of the structural, molecular biology, biochemistry, genetics, morphology, intracellular signaling and relationship to hereditary or infectious diseases will be covered. Manuscripts must provide a clear conceptual or mechanistic advance. The editors will reject papers that require major changes, including addition of significant experimental data or other significant revision. Traffic will consider manuscripts of any length, but encourages authors to limit their papers to 16 typeset pages or less.
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