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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

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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.
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In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
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ATP Energy Storage and Release01:31

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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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Sugars as Energy Storage Molecules01:10

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Sugar (a simple carbohydrate) metabolism (chemical reactions) is a classic example of the many cellular processes that use and produce energy. Living things consume sugar as a major energy source because sugar molecules have considerable energy stored within their bonds. Consumed carbohydrates have their origins in photosynthesizing organisms like plants. During photosynthesis, plants use the energy of sunlight to convert carbon dioxide gas into sugar molecules, like glucose. Because this...
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Related Experiment Video

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Visualizing Mitophagy with Fluorescent Dyes for Mitochondria and Lysosome
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Lysosomal storage diseases.

Frances M Platt1, Alessandra d'Azzo2, Beverly L Davidson3,4

  • 1Department of Pharmacology, University of Oxford, Oxford, UK. frances.platt@pharm.ox.ac.uk.

Nature Reviews. Disease Primers
|October 3, 2018
PubMed
Summary
This summary is machine-generated.

Lysosomal storage diseases (LSDs) are rare genetic disorders affecting lysosomes. Current treatments include enzyme replacement and small molecules, with gene therapies in development.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Lysosomal storage diseases (LSDs) encompass over 70 rare, inherited disorders.
  • Characterized by lysosomal dysfunction, LSDs collectively affect 1 in 5,000 births.
  • These progressive neurodegenerative conditions impact multiple organ systems.

Purpose of the Study:

  • To provide an overview of lysosomal storage diseases.
  • To discuss the underlying cellular pathogenesis and genetic basis.
  • To review current and emerging therapeutic strategies.

Main Methods:

  • Literature review of LSDs, focusing on pathophysiology and treatment.
  • Analysis of genetic defects and their impact on lysosomal function.
  • Summary of approved therapies and advanced treatment modalities.

Main Results:

  • LSDs result from impaired lysosomal macromolecule catabolism or transport.
  • Defective genes encode lysosomal enzymes or membrane proteins, leading to cellular damage.
  • Enzyme replacement, substrate reduction, and chaperone therapies are approved for some LSDs.

Conclusions:

  • The cellular pathogenesis of LSDs is complex and not fully understood.
  • Enzyme replacement therapy is a primary treatment for several LSDs.
  • Small-molecule therapies and gene-based approaches show promise for future LSD treatment.