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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,...
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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,...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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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 Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Clarifying lysosomal storage diseases.

Mark L Schultz1, Luis Tecedor, Michael Chang

  • 1Department of Internal Medicine, University of Iowa, Iowa City, IA 52242, USA.

Trends in Neurosciences
|July 5, 2011
PubMed
Summary
This summary is machine-generated.

Lysosomal storage diseases (LSDs) disrupt neuronal viability through poorly understood cellular mechanisms. This review explores these widespread cellular defects in LSDs and potential interventions to correct them.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Lysosomal storage diseases (LSDs) are metabolic disorders caused by genetic mutations affecting lysosomal function.
  • These diseases impact lysosomal enzymes, membrane proteins, and protein modification/trafficking.
  • While individually rare, LSDs affect 1 in 8000 births, with over two-thirds causing debilitating central nervous system (CNS) dysfunction.

Purpose of the Study:

  • To review the widespread cellular perturbations occurring in LSDs.
  • To explore the links between these cellular defects.
  • To discuss potential interventions for LSDs.

Main Methods:

  • Literature review of cellular mechanisms in LSDs.
  • Analysis of protein deficiencies and their impact on neuronal viability.
  • Synthesis of information on cellular perturbations and potential therapeutic strategies.

Main Results:

  • Deficiencies in lysosomal proteins lead to ambiguous cellular mechanisms disrupting neuronal viability.
  • Widespread cellular perturbations are characteristic of LSDs.
  • Interventions may target specific or global cellular defects.

Conclusions:

  • Understanding the cellular basis of LSDs is crucial for developing effective treatments.
  • Targeting cellular perturbations offers a promising therapeutic avenue for LSDs.
  • Further research is needed to elucidate the precise mechanisms and optimize interventions.