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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,...
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Extracorporeal Removal of Drugs: Continuous Renal Replacement Therapy

Continuous Renal Replacement Therapy (CRRT) is an essential intervention for patients experiencing severe kidney dysfunction. This therapy offers a continuous mechanism for removing fluids and toxins from the bloodstream, leveraging the patient’s blood pressure to facilitate filtration through a specialized filter. This method contrasts with intermittent dialysis, providing a gentler and more consistent removal of waste products and excess fluid, which is particularly beneficial in critically...
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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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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Published on: December 20, 2017

Enzyme replacement therapy for lysosomal storage diseases.

Robin H Lachmann1

  • 1Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. robin.lachmann@uclh.nhs.uk

Current Opinion in Pediatrics
|September 28, 2011
PubMed
Summary

Enzyme replacement therapy (ERT) is effective for Gaucher disease but less so for other lysosomal storage disorders (LSDs). Future treatments aim to improve enzyme delivery to target tissues and the central nervous system for better efficacy.

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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
  • Pharmacology
  • Genetics

Background:

  • Enzyme replacement therapy (ERT) has shown significant success in treating type 1 Gaucher disease.
  • While ERT is available for other lysosomal storage disorders (LSDs), its efficacy is often limited compared to Gaucher disease.
  • High costs are associated with these advanced treatments.

Purpose of the Study:

  • To investigate the reasons behind the limited efficacy of ERT in LSDs beyond Gaucher disease.
  • To explore strategies for enhancing the effectiveness of future ERT products.

Main Methods:

  • Review of current ERT approaches and their limitations in various LSDs.
  • Analysis of enzyme delivery mechanisms, including cellular uptake via the mannose-6-phosphate receptor (M6PR).
  • Exploration of novel strategies such as modifying enzyme ligands and M6PR expression, and alternative administration routes like intrathecal delivery for central nervous system targeting.

Main Results:

  • Macrophages are efficiently targeted in Gaucher disease ERT via intravenous enzyme injection.
  • Other LSDs exhibit lower enzyme doses in target tissues, with intravenous ERT failing to cross the blood-brain barrier.
  • Enzyme uptake is mediated by the mannose-6-phosphate receptor (M6PR).
  • Research is ongoing to improve enzyme delivery by altering enzyme ligands and M6PR expression.
  • Intrathecal administration is being investigated for central nervous system delivery.

Conclusions:

  • Tissue culture and animal models demonstrate improved enzyme delivery efficiency.
  • Clinical trials for second-generation ERT products and novel delivery systems are in progress.