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Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
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,...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
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Nephrotic Syndrome II : Assessment and Medical Management

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Related Experiment Video

Updated: Jun 18, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Narrative review: Fabry disease.

Joe T R Clarke1

  • 1Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada. jtrc@sickkids.ca

Annals of Internal Medicine
|March 21, 2007
PubMed
Summary
This summary is machine-generated.

Fabry disease is a genetic disorder caused by a deficient enzyme, leading to harmful substance buildup. Enzyme replacement therapy can reduce this substance in blood vessels but may need early intervention for full effectiveness.

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Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants
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Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants
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Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants

Published on: November 28, 2025

Area of Science:

  • Biochemistry
  • Genetics
  • Medicine

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • It stems from a deficiency in alpha-galactosidase A enzyme activity.
  • This deficiency causes globotriaosylceramide (Gb3) accumulation in various tissues.

Observation:

  • Gb3 accumulates in small blood vessels, nerves, kidneys, and heart.
  • Clinical manifestations include pain, kidney impairment, cardiomyopathy, and stroke.
  • Intravenous enzyme replacement therapy (ERT) uses recombinant human alpha-galactosidase A.

Findings:

  • ERT effectively lowers plasma Gb3 levels.
  • Lysosomal inclusions are cleared from vascular endothelial cells.
  • Therapeutic effects on other tissues are less apparent.

Implications:

  • Early initiation of ERT may be crucial for optimal outcomes.
  • Some Fabry disease complications might not respond to intravenously delivered enzymes.
  • Further research is needed to understand ERT efficacy across all affected tissues.