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Related Concept Videos

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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Inborn Errors of Metabolism01:20

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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...
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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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Glucose Transporters01:27

Glucose Transporters

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Protein Import into the Peroxisomes01:27

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Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
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Delivery Pathways to the Lysosome

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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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Related Experiment Video

Updated: Dec 29, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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SnapShot: Lysosomal Storage Diseases.

José A Martina1, Nina Raben1, Rosa Puertollano1

  • 1Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Cell
|February 8, 2020
PubMed
Summary

Lysosomal storage diseases (LSDs) involve inherited metabolic disorders where lysosomes accumulate undegraded material. This review covers protein functions, pathogenesis, and current therapies for LSDs.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Lysosomal storage diseases (LSDs) are monogenic inherited metabolic disorders.
  • Characterized by the accumulation of undegraded substrates within lysosomes.
  • This leads to impaired lysosomal activity and cellular homeostasis.

Purpose of the Study:

  • To summarize the intracellular localization and function of proteins involved in LSDs.
  • To outline common pathogenic mechanisms in LSDs.
  • To review current therapeutic strategies for LSDs.

Main Methods:

  • Literature review and synthesis of existing data.
  • Focus on protein localization and function.
  • Analysis of LSD pathogenesis and therapeutic approaches.

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Main Results:

  • Detailed overview of proteins implicated in various LSDs.
  • Explanation of how protein dysfunction contributes to substrate accumulation.
  • Identification of common pathways affected across different LSDs.

Conclusions:

  • Understanding protein roles is crucial for LSD pathogenesis.
  • Current therapies aim to address specific molecular defects or symptoms.
  • Further research into protein function can reveal new therapeutic targets.