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Related Concept Videos

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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Storage01:23

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A schema is a mental framework that helps individuals organize and interpret information. Schemata, formed from previous experiences, influence how we process new information: how we encode it, the inferences we make, and how we retrieve it. For instance, a schema for what a typical classroom looks like might include desks, a teacher's desk, a whiteboard, and students in such an environment. This expectation helps us quickly understand and navigate new classrooms without needing to analyze...
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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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Delivery Pathways to the Lysosome01:36

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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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Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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ATP Energy Storage and Release01:31

ATP Energy Storage and Release

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ATP is a highly unstable molecule. Unless quickly used to perform work, ATP spontaneously dissociates into ADP and inorganic phosphate (Pi), and the free energy released during this process is lost as heat. The energy released by ATP hydrolysis is used to perform work inside the cell and depends on a strategy called energy coupling. Cells couple the exergonic reaction of ATP hydrolysis with endergonic reactions, allowing them to proceed.
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Related Experiment Video

Updated: Jan 24, 2026

Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes
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Treating lysosomal storage disorders: What have we learnt?

Robin H Lachmann1

  • 1Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

Journal of Inherited Metabolic Disease
|May 30, 2019
PubMed
Summary

Enzyme replacement therapy (ERT) has transformed lysosomal storage disorder (LSD) treatment since 1991. This review assesses the real-world effectiveness of ERTs for Gaucher, Fabry, Pompe, and MPS diseases over the past decade.

Keywords:
FabryGaucherPompeenzyme replacement therapylysosomal storage disordersmucopolysaccharidoses

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Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • The first enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs) was approved in 1991, marking a significant advancement in treating genetic diseases.
  • Over 25 years of experience with type 1 Gaucher disease ERT has demonstrated its remarkable success, driving further development.
  • More than a decade of clinical experience now exists for ERT in Gaucher, Fabry, Pompe, and MPS I, II, and VI.

Purpose of the Study:

  • To evaluate the real-life clinical experience and effectiveness of established enzyme replacement therapies (ERTs) for lysosomal storage disorders (LSDs).
  • To assess whether these innovative and costly treatments have met the high expectations set at their launch.
  • To provide insights into the long-term outcomes and practical application of ERTs in managing specific LSDs.

Main Methods:

  • Review of clinical data and published literature on enzyme replacement therapies (ERTs) for lysosomal storage disorders (LSDs).
  • Analysis of real-world patient outcomes for treatments including Gaucher, Fabry, Pompe, and MPS I, II, and VI.
  • Assessment of treatment efficacy, safety, and patient experience based on available clinical evidence.

Main Results:

  • ERTs have shown significant success in managing type 1 Gaucher disease over more than 25 years.
  • Established ERTs for Gaucher, Fabry, Pompe, and MPS I, II, and VI have accumulated over 10 years of clinical use.
  • The article critically examines the real-world performance of these therapies against initial expectations.

Conclusions:

  • Enzyme replacement therapy represents a major therapeutic advance for lysosomal storage disorders.
  • Long-term real-world data are crucial for understanding the full impact and value of ERTs.
  • Ongoing assessment is necessary to ensure these expensive treatments continue to meet patient needs and clinical expectations.