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DDOST在相关疾病中失调的研究进展。

Progress in research on DDOST dysregulation in related diseases.

作者信息

Sun Haoan, Xie Chunbao

机构信息

School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

Department of Laboratory Medicine and Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32, West Section 2, 1 st Ring Road, Chengdu, Sichuan, 610072, China.

出版信息

Glycoconj J. 2025 Jul 2. doi: 10.1007/s10719-025-10188-9.

DOI:10.1007/s10719-025-10188-9
PMID:40601285
Abstract

DDOST is an important subunit of N-glycosylated oligosaccharyltransferase and is closely related to protein N-glycosylation. Some studies have reported that abnormal expression of DDOST is associated with congenital disorders of glycosylation, solid tumours and other diseases. To better understand the progress of research on DDOST in diseases, we herein provide a comprehensive review of the basic functions of DDOST, interactions molecules, DDOST-congenital disorders of glycosylation (DDOST-CDG) and solid tumours. Our review findings will lay a foundation for researchers to better understand the functions of DDOST and to investigate its specific mechanisms of action.

摘要

DDOST是N-糖基化寡糖基转移酶的一个重要亚基,与蛋白质N-糖基化密切相关。一些研究报道,DDOST的异常表达与糖基化先天性疾病、实体瘤及其他疾病有关。为了更好地了解DDOST在疾病研究方面的进展,我们在此全面综述了DDOST的基本功能、相互作用分子、DDOST-糖基化先天性疾病(DDOST-CDG)及实体瘤。我们的综述结果将为研究人员更好地理解DDOST的功能及探究其具体作用机制奠定基础。

相似文献

1
Progress in research on DDOST dysregulation in related diseases.DDOST在相关疾病中失调的研究进展。
Glycoconj J. 2025 Jul 2. doi: 10.1007/s10719-025-10188-9.
2
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.全外显子测序鉴定的 DDOST 突变与糖基化先天性疾病有关。
Am J Hum Genet. 2012 Feb 10;90(2):363-8. doi: 10.1016/j.ajhg.2011.12.024. Epub 2012 Feb 2.
3
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.糖基化先天性疾病前沿研究联盟,一项针对自然病史队列中280名个体的第5年横断面研究报告。
Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6.
4
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.在SLC35A2-CDG中糖鞘脂合成受损,补充半乳糖后有所改善。
Cell Mol Life Sci. 2025 Jun 27;82(1):257. doi: 10.1007/s00018-025-05759-w.
5
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.DDOST-CDG:第三位临床症状较轻且以运动障碍为主的患者的临床和分子特征。
J Inherit Metab Dis. 2023 Jan;46(1):92-100. doi: 10.1002/jimd.12565. Epub 2022 Oct 17.
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Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.磷酸甘露糖异构酶2 - 先天性糖基化障碍:探索N - 糖基化在内分泌轴上的作用
Front Endocrinol (Lausanne). 2025 Jul 23;16:1594118. doi: 10.3389/fendo.2025.1594118. eCollection 2025.
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The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.第二位患有乳糖不耐受、发育迟缓及全内脏反位的 DDOST-CDG 患者。
J Hum Genet. 2022 Feb;67(2):103-106. doi: 10.1038/s10038-021-00974-2. Epub 2021 Aug 31.
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A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.超罕见的SLC35A1-CDG中的一种新型错义变体改变细胞糖基化、脂质和能量代谢,而不影响CDG血清标志物。
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Glycosylation of Structured Protein Domains in Cell-Free Reaction Environments.无细胞反应环境中结构化蛋白质结构域的糖基化
ACS Synth Biol. 2025 Jun 20;14(6):2354-2367. doi: 10.1021/acssynbio.5c00229. Epub 2025 May 28.

本文引用的文献

1
DDOST is associated with tumor immunosuppressive microenvironment in cervical cancer.DDOST与宫颈癌的肿瘤免疫抑制微环境相关。
Discov Oncol. 2024 Mar 9;15(1):69. doi: 10.1007/s12672-024-00927-z.
2
Congenital disorders of glycosylation (CDG): state of the art in 2022.先天性糖基化障碍(CDG):2022 年的最新进展。
Orphanet J Rare Dis. 2023 Oct 19;18(1):329. doi: 10.1186/s13023-023-02879-z.
3
Structural and mechanistic studies of the N-glycosylation machinery: from lipid-linked oligosaccharide biosynthesis to glycan transfer.
糖基化工程结构与机制研究:从脂连接寡糖生物合成到聚糖转移。
Glycobiology. 2023 Dec 25;33(11):861-872. doi: 10.1093/glycob/cwad053.
4
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.DDOST-CDG:第三位临床症状较轻且以运动障碍为主的患者的临床和分子特征。
J Inherit Metab Dis. 2023 Jan;46(1):92-100. doi: 10.1002/jimd.12565. Epub 2022 Oct 17.
5
DDOST Correlated with Malignancies and Immune Microenvironment in Gliomas.DDOST 与脑胶质瘤中的恶性肿瘤和免疫微环境相关。
Front Immunol. 2022 Jun 23;13:917014. doi: 10.3389/fimmu.2022.917014. eCollection 2022.
6
Upregulation of ribosome complexes at the blood-brain barrier in Alzheimer's disease patients.阿尔茨海默病患者血脑屏障中核糖体复合物的上调。
J Cereb Blood Flow Metab. 2022 Nov;42(11):2134-2150. doi: 10.1177/0271678X221111602. Epub 2022 Jun 29.
7
Prognostic Biomarker DDOST and Its Correlation With Immune Infiltrates in Hepatocellular Carcinoma.预后生物标志物DDOST及其与肝细胞癌免疫浸润的相关性
Front Genet. 2022 Jan 31;12:819520. doi: 10.3389/fgene.2021.819520. eCollection 2021.
8
Knockdown of Oligosaccharyltransferase Subunit Ribophorin 1 Induces Endoplasmic-Reticulum-Stress-Dependent Cell Apoptosis in Breast Cancer.敲低寡糖基转移酶亚基核糖体结合蛋白1可诱导乳腺癌中内质网应激依赖性细胞凋亡。
Front Oncol. 2021 Oct 27;11:722624. doi: 10.3389/fonc.2021.722624. eCollection 2021.
9
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.第二位患有乳糖不耐受、发育迟缓及全内脏反位的 DDOST-CDG 患者。
J Hum Genet. 2022 Feb;67(2):103-106. doi: 10.1038/s10038-021-00974-2. Epub 2021 Aug 31.
10
Identification of Potentially Related Genes and Mechanisms Involved in Skeletal Muscle Atrophy Induced by Excessive Exercise in Zebrafish.斑马鱼过度运动诱导骨骼肌萎缩中潜在相关基因及机制的鉴定
Biology (Basel). 2021 Aug 10;10(8):761. doi: 10.3390/biology10080761.