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去泛素化酶MYSM1:一种重要的组织发育和功能调节因子。

Deubiquitinase MYSM1: An Important Tissue Development and Function Regulator.

作者信息

Qin Qiaozhen, Ruan Huaqiang, Zhang Heyang, Xu Zhenhua, Pan Wenting, Yan Xinlong, Jiang Xiaoxia

机构信息

Beijing International Science and Technology Cooperation Base for Antiviral Drugs, Beijing Key Laboratory of Environmental and Viral Oncology, College of Chemistry and Life Science, Beijing University of Technology, Beijing 100124, China.

Beijing Institute of Basic Medical Sciences, Beijing 100850, China.

出版信息

Int J Mol Sci. 2024 Dec 4;25(23):13051. doi: 10.3390/ijms252313051.

DOI:10.3390/ijms252313051
PMID:39684760
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11641604/
Abstract

MYSM1, a deubiquitinating enzyme, plays a pivotal role in diverse biological processes. Both MYSM1 knockout mice and patients with Mysm1 gene mutations exhibit developmental abnormalities across multiple tissues and organs. Serving as a crucial regulator, MYSM1 influences stem cell function, immune responses, and the pathogenesis of diverse diseases. This review comprehensively details MYSM1's deubiquitinating activities in both the nucleus and cytoplasmic compartments, its effects on stem cell proliferation, differentiation, and immune cell function, and its involvement in cancer, aging, and depression. The high sequence homology between murine and human MYSM1, along with similar phenotypes observed in Mysm1-deficient models, provides valuable insights into the etiology of human Mysm1-deficiency syndromes. This review aims to offer a foundation for future comprehensive research on MYSM1.

摘要

MYSM1是一种去泛素化酶,在多种生物学过程中发挥关键作用。MYSM1基因敲除小鼠和携带Mysm1基因突变的患者在多个组织和器官中均表现出发育异常。作为一个关键调节因子,MYSM1影响干细胞功能、免疫反应以及多种疾病的发病机制。本综述全面详细地阐述了MYSM1在细胞核和细胞质区室中的去泛素化活性、其对干细胞增殖、分化和免疫细胞功能的影响,以及其在癌症、衰老和抑郁症中的作用。小鼠和人类MYSM1之间的高度序列同源性,以及在Mysm1缺陷模型中观察到的相似表型,为深入了解人类Mysm1缺陷综合征的病因提供了有价值的见解。本综述旨在为未来对MYSM1的全面研究奠定基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/8b329d60278d/ijms-25-13051-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/21530493ac9f/ijms-25-13051-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/492c163fef86/ijms-25-13051-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/246af7470b40/ijms-25-13051-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/8b329d60278d/ijms-25-13051-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/21530493ac9f/ijms-25-13051-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/492c163fef86/ijms-25-13051-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/246af7470b40/ijms-25-13051-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c55/11641604/8b329d60278d/ijms-25-13051-g004.jpg

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Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy.一名MYSM1缺陷患者进行体细胞基因拯救后血液学恢复的长期评估:对体内基因治疗的启示
Br J Haematol. 2024 Dec;205(6):2349-2354. doi: 10.1111/bjh.19744. Epub 2024 Sep 4.
3
Senescent glia link mitochondrial dysfunction and lipid accumulation.
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Nature. 2024 Jun;630(8016):475-483. doi: 10.1038/s41586-024-07516-8. Epub 2024 Jun 5.
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Graft failure after allogeneic hematopoietic stem cell transplantation in pediatric patients with acute leukemia: autologous reconstitution or second transplant?急性白血病患儿异基因造血干细胞移植后的移植物失败:自体重建还是二次移植?
Stem Cell Res Ther. 2024 Apr 22;15(1):111. doi: 10.1186/s13287-024-03726-z.
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6
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