Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Proteoglycans01:05

Proteoglycans

4.6K
Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
4.6K
Protein Glycosylation01:25

Protein Glycosylation

9.2K
Glycosylation, the most common post-translational modification for proteins, serves diverse functions. Adding sugars to proteins makes the proteins more resistant to proteolytic digestion. Glycosylated proteins can act as markers and receptors to promote cell-cell adhesion. Additionally, they have many essential quality control functions in the cell, such as correct protein folding and facilitating transport of misfolded proteins to the cytosol, which can be degraded.
Glycosylation occurs in...
9.2K
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

3.5K
Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
3.5K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

680
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
680
Carbohydrate Catabolism01:30

Carbohydrate Catabolism

938
Carbohydrate catabolism is a fundamental process in cellular metabolism that enables energy extraction from glucose through two primary pathways: cellular respiration and fermentation. Both pathways begin with glycolysis, which operates independently of oxygen availability.Glycolysis: A Shared Starting PointGlycolysis is an oxygen-independent process that breaks down glucose into two molecules of pyruvic acid. During this process, a net gain of two ATP molecules and two NADH molecules is...
938
Glycosaminoglycans01:23

Glycosaminoglycans

6.8K
Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
6.8K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Anti-myeloma mechanisms of the selective NF-κB inhibitor QNZ.

Molecular therapy. Oncology·2026
Same author

Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype.

Movement disorders clinical practice·2026
Same author

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.

Neurogenetics·2026
Same author

Analyses of <i>ATP7B</i> mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Human mutation·2026
Same author

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Clinical biochemistry·2026
Same author

A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam.

Scientific reports·2026

相关实验视频

Updated: Jan 9, 2026

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
10:00

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy

Published on: November 8, 2016

8.9K

洞察与COG6-CDGG相关的病理性糖化.

Zuzana Pakanová1, Maroš Krchňák1, Marek Nemčovič1

  • 1Department of Glycobiology, Institute of Chemistry, Slovak Academy of Sciences, Bratislava, Slovakia.

Human mutation
|December 9, 2025
PubMed
概括

我们发现了一种新的COG6变异,导致COG6蛋白功能在患有多系统性先天性糖化乱 (CDG) 的婴儿中完全丧失. 这一发现为COG6-CDG分子机制和潜在的诊断生物标志物提供了洞察力.

关键词:
这是一个COG6-CDG.糖化物是什么?糖化物是什么?葡萄糖型的葡萄糖型是什么质谱测量质谱测量质谱测量质量测量质谱测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量

更多相关视频

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

7.9K
Targeting Cysteine Thiols for in Vitro Site-specific Glycosylation of Recombinant Proteins
11:25

Targeting Cysteine Thiols for in Vitro Site-specific Glycosylation of Recombinant Proteins

Published on: October 4, 2017

7.0K

相关实验视频

Last Updated: Jan 9, 2026

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
10:00

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy

Published on: November 8, 2016

8.9K
Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

7.9K
Targeting Cysteine Thiols for in Vitro Site-specific Glycosylation of Recombinant Proteins
11:25

Targeting Cysteine Thiols for in Vitro Site-specific Glycosylation of Recombinant Proteins

Published on: October 4, 2017

7.0K

科学领域:

  • 生物化学 生化学
  • 遗传学 是一个遗传学.
  • 分子生物学分子生物学

背景情况:

  • 血糖代谢先天性障碍 (CDG) 是一种罕见的遗传代谢疾病.
  • 蛋白质糖基化中的缺陷导致多系统性临床表现.
  • COG6-CDG是一种特定的亚型,其特点是COG复合体的缺陷.

研究的目的:

  • 在一个多系统性参与的婴儿中调查COG6-CDG病例.
  • 确定患者病情背后的遗传原因和分子机制.
  • 为了探索COG6-CDG诊断的潜在糖生物标志物.

主要方法:

  • 质谱学 (MALDI,ESI-Orbitrap) 用于分析甘氨酸 (N-和O-甘氨酸).
  • 下一代测序用于COG6基因的突变分析.
  • 评估COG6亚单元表达,合作亚单元和逆行运输的功能研究.

主要成果:

  • 在COG6基因中发现了一种新型的同卵性变异 (c.906_907delinsA),导致截断的蛋白质和功能完全丧失.
  • 检测到组合N-和O-糖化缺陷,符合COG6-CDG.
  • 特定的未经加工的N-甘氨酸被确定为潜在的葡萄糖生物标志物.

结论:

  • 该研究描述了一种新的COG6变体,导致严重的糖化异常和蛋白质功能完全丧失.
  • 多组学分析阐明了COG6-CDG的分子机制以及COG6基因的作用.
  • 这些发现突出了患者的甘类型的显著变化,这是由于发现的突变.