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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 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...
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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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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:
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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,...
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Overview of Carbohydrate Metabolism01:19

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Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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溶酶体储存障碍 溶酶体储存障碍

Jacopo Cefalo1,2, Bruno Crestani1,3, Alice Guyard4

  • 1Service de Pneumologie Allergologie et Transplantation, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU INFIRE, Paris, France.

Seminars in respiratory and critical care medicine
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概括
此摘要是机器生成的。

酸髓酶缺乏症 (ASMD) 是一种常见的溶酶体疾病,导致间歇性肺病 (ILD). 酶替代疗法 (阿尔法脂酶) 在改善肺功能和器官损伤方面显示出有希望的结果.

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科学领域:

  • 生物化学 生物化学
  • 遗传学 遗传学 是一个
  • 肺部病理学 肺部病理学

背景情况:

  • lysosomal疾病 (LDs) 是一种罕见的遗传性疾病,影响大分子降解.
  • 酸髓酶缺乏症 (ASMD) 是最常见的肺部疾病,包括肺部疾病,呈现为间歇性肺部疾病 (ILD).
  • 呼吸系统症状包括感染和炼性呼吸不全;ILD与器官巨化和改变的脂质样本有关.

研究的目的:

  • 总结ASMD相关ILD的临床特征和诊断方法.
  • 为了突出酶替代疗法 (ERT) 与阿尔法橄酶对ASMD的疗效.

主要方法:

  • 对临床表现,诊断结果 (泡细胞,酶定量,SMPD1变异) 和治疗结果的审查.
  • 分析了关于橄酶α对器官体积,肺功能 (DLCO) 和放射学发现的影响的数据.

主要成果:

  • ASMD-ILD通常表现为限制性肺模式和减少的DLCO.
  • 诊断包括酶分析和SMPD1变异的基因检测.
  • 阿尔法脂酶在肝脏/脏体积,DLCO和肺部成像方面显著改善.

结论:

  • 在不可逆转的器官损伤之前,早期诊断ASMD对于启动ERT至关重要.
  • 用olipudase alfa的酶替代疗法为ASMD提供了一个有前途的治疗方法,改善呼吸道和全身症状.