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相关概念视频

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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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
643
Lysosomes01:31

Lysosomes

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Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
25.1K
Glucose Transporters01:27

Glucose Transporters

27.0K
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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Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
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Delivery Pathways to the Lysosome01:36

Delivery Pathways to the Lysosome

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Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
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相关实验视频

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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快照:溶酶体储存疾病

José A Martina1, Nina Raben1, Rosa Puertollano1

  • 1Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Cell
|February 8, 2020
PubMed
概括

溶酶体储存疾病 (LSDs) 涉及遗传性代谢障碍,其中溶酶体积聚未降解的物质. 本综述涵盖了蛋白质功能,病变和目前的LSD治疗方法.

科学领域:

  • 生物化学
  • 遗传学
  • 细胞生物学

背景情况:

  • 溶解体储存疾病 (LSD) 是一种单源性遗传代谢疾病.
  • 通过溶酶体内未降解基质的积累而表现.
  • 这导致 lysosomal 活动和细胞平衡受损.

研究的目的:

  • 总结LSD中涉及的蛋白质的细胞内定位和功能.
  • 概述LSD中常见的致病机制.
  • 审查目前的LSD治疗策略.

主要方法:

  • 文献审查和现有数据的综合.
  • 专注于蛋白质的定位和功能.
  • 对LSD病变的分析和治疗方法.

主要成果:

  • 有关各种LSD的蛋白质的详细概述.
  • 解释蛋白质功能障碍如何导致基质积累.
  • 识别不同LSD受影响的常见途径.

结论:

  • 了解蛋白质的作用对于LSD的产生至关重要.

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  • 目前的疗法旨在解决特定的分子缺陷或症状.
  • 对蛋白质功能的进一步研究可以揭示新的治疗点.