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相关概念视频

Glycosaminoglycans01:23

Glycosaminoglycans

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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...
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Proteoglycans01:05

Proteoglycans

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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,...
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Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Oligosaccharide Assembly01:24

Oligosaccharide Assembly

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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...
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Glucose Transporters01:27

Glucose Transporters

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Cystic Fibrosis: Pathogenesis01:23

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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,...
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相关实验视频

Updated: Jul 5, 2025

Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins
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Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins

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粘多糖糖症是什么 粘多糖症是什么

Kusumitha Bhakthaganesh1, Manumuraleekrishna1, Murugesan Vanathi1

  • 1Cornea and Ocular Surface, Cataract and Refractive Services, Dr. R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Taiwan journal of ophthalmology
|January 22, 2024
PubMed
概括
此摘要是机器生成的。

粘多糖症 (MPS) 是一种遗传性疾病,会导致糖氨酸糖的积累,导致器官损伤. 本综述侧重于MPS患者的眼部表现,特别是角膜和前段变化.

关键词:
前段光学连贯性断层扫描前段光学连贯性断层扫描角膜模糊度测量得分的分数.酶替代疗法是一种酶替代疗法.葡萄糖氨基酸糖甘油 葡萄糖甘油血液造血干细胞移植的结果是什么?在体内共聚焦显微镜 in vivo.粘多糖糖化物 (mucopolysaccharidoses) 是一种多糖化物.超声波生物显微镜研究

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Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
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Author Spotlight: Dendritic Cells Maturation Using Sialidases-Based Enzymatic Treatment of the Cell Surface
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相关实验视频

Last Updated: Jul 5, 2025

Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins
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Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
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Author Spotlight: Dendritic Cells Maturation Using Sialidases-Based Enzymatic Treatment of the Cell Surface
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科学领域:

  • 眼科医生 眼科 眼科
  • 遗传学 是一个遗传学.
  • 代谢障碍 代谢障碍 代谢障碍

背景情况:

  • 粘多糖症 (MPS) 是一种遗传性代谢性疾病.
  • lysosomal 酶的缺陷会导致糖氨酸糖的积累,损害细胞和器官.
  • MPS会影响多个器官系统,包括眼睛.

研究的目的:

  • 审查MPS患者的眼部变化,重点关注角膜和前部段.
  • 讨论眼部表现的临床和调查方式.
  • 探索当前的管理策略和研究发展.

主要方法:

  • 在Mucopolysaccharidoses中对眼部发现的文献综述.
  • 临床表现和诊断方法的分析.
  • 治疗干预和新兴研究的评估.

主要成果:

  • 视力障碍在MPS是多样化的,源于角膜模糊,玻璃眼,视网膜病变和视神经病变.
  • 角膜和前段变化是MPS类型中常见的眼部特征.
  • 像HSCT和ERT这样的全身疗法显示出对眼睛健康的潜在影响.

结论:

  • 眼部表现显著影响MPS患者的视力.
  • 对角膜和前段变化的全面了解对于管理至关重要.
  • 目前正在进行的研究和新的疗法为改善视觉结果提供了希望.