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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,...
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Morphological Manifestations of Necrosis
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Neural Regulation

Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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Related Experiment Video

Updated: May 20, 2026

Ferritinophagy: Assessing the Selective Degradation of Iron by Autophagy in Human Fibroblasts
09:21

Ferritinophagy: Assessing the Selective Degradation of Iron by Autophagy in Human Fibroblasts

Published on: February 23, 2024

Neuroferritinopathy.

Alexander Lehn1, Richard Boyle, Helen Brown

  • 1Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia. alex_lehn@health.qld.gov.au

Parkinsonism & Related Disorders
|July 24, 2012
PubMed
Summary

Neuroferritinopathy, a genetic disorder, causes iron buildup in the brain, leading to movement issues. Current treatments do not alter the disease

Area of Science:

  • Neurology
  • Genetics
  • Neurodegeneration

Background:

  • Neuroferritinopathy is an autosomal dominant disorder.
  • Caused by mutations in the ferritin light chain gene.
  • Characterized by iron deposition in the brain.

Observation:

  • Clinical presentation in adulthood with extrapyramidal signs.
  • Slow progression over decades.
  • Cognition typically remains intact until late stages.

Findings:

  • Neuroimaging reveals a distinctive pattern of iron accumulation.
  • Five new cases are presented.
  • Pathogenesis and clinical findings are reviewed.

Implications:

Related Experiment Videos

Last Updated: May 20, 2026

Ferritinophagy: Assessing the Selective Degradation of Iron by Autophagy in Human Fibroblasts
09:21

Ferritinophagy: Assessing the Selective Degradation of Iron by Autophagy in Human Fibroblasts

Published on: February 23, 2024

  • No current disease-modifying therapies exist for neuroferritinopathy.
  • Understanding pathogenesis is crucial for future treatment development.
  • Distinctive neuroimaging aids diagnosis.