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Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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,...
Lysosomes01:31

Lysosomes

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,...
Enzymes02:34

Enzymes

Inside living organisms, enzymes act as catalysts for many biochemical reactions involved in cellular metabolism. The role of enzymes is to reduce the activation energies of biochemical reactions by forming complexes with its substrates. The lowering of activation energies favor an increase in the rates of biochemical reactions.
Enzyme deficiencies can often translate into life-threatening diseases. For example, a genetic abnormality resulting in the deficiency of the enzyme G6PD...
Enzyme-linked Receptors01:00

Enzyme-linked Receptors

Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
Enzyme Inhibition01:30

Enzyme Inhibition

Inhibitors are molecules that reduce enzyme activity by binding to the enzyme. In a normally functioning cell, enzymes are regulated by a variety of inhibitors. Drugs and other toxins can also inhibit enzymes. Some inhibitors bind to the enzyme’s active site, while others inhibit enzymatic activity by binding to other sites on the protein structure.

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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

Published on: December 20, 2017

[Enzyme replacement therapy for lysosomal storage disorders].

V Valayannopoulos1, A Brassier, A Chabli

  • 1Centre de référence des maladies héréditaires du métabolisme de l'enfant et de l'adulte (MaMEA), hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France. vassili.valaya@nck.aphp.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|August 30, 2011
PubMed
Summary
This summary is machine-generated.

Enzyme replacement therapies offer new hope for lysosomal storage disorders, moving beyond symptomatic care. This review covers current treatment efficacy, safety, and future therapeutic avenues for these rare genetic conditions.

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Detection of Antibodies That Neutralize the Cellular Uptake of Enzyme Replacement Therapies with a Cell-based Assay
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Detection of Antibodies That Neutralize the Cellular Uptake of Enzyme Replacement Therapies with a Cell-based Assay

Published on: September 10, 2018

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Lysosomal storage disorders (LSDs) were historically managed with symptomatic treatments.
  • Recent advancements have introduced enzyme replacement therapies (ERTs) for several LSDs.
  • ERTs represent a significant shift towards disease-modifying treatments for LSDs.

Purpose of the Study:

  • To review the efficacy and safety of existing ERTs for LSDs.
  • To explore emerging therapeutic trials for other LSDs.
  • To discuss future perspectives for current ERT applications.

Main Methods:

  • Literature review of published studies on ERTs for LSDs.
  • Analysis of clinical trial data for efficacy and safety outcomes.
  • Synthesis of information on ongoing and future therapeutic strategies.

Main Results:

  • ERTs have demonstrated efficacy in treating Gaucher disease, Fabry disease, mucopolysaccharidoses types I, II, and VI, and Pompe disease.
  • Current ERTs show a generally favorable safety profile with manageable side effects.
  • New therapeutic trials are underway for other LSDs, expanding treatment options.

Conclusions:

  • Enzyme replacement therapy is a viable and effective treatment for multiple lysosomal storage disorders.
  • Ongoing research and development promise expanded therapeutic options for a wider range of LSDs.
  • The landscape of LSD treatment has significantly improved, offering better outcomes for patients.