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Related Concept Videos

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Biological membranes show uneven distribution of different types of lipids in the inner and outer layers, resulting in transverse asymmetric membranes. The treatment of the erythrocyte membrane with the enzyme phospholipase confirmed the asymmetric nature of the lipid bilayer. The enzyme hydrolyzes lipids into fatty acids and hydrophilic groups. The phospholipase acts only on the outer layer of the membrane, while the inner layer remains intact. The phospholipase treatment resulted in 80%...
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Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
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Related Experiment Video

Updated: Jan 18, 2026

Live Imaging Assay for Assessing the Roles of Ca2+ and Sphingomyelinase in the Repair of Pore-forming Toxin Wounds
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[Acid sphingomyelinase deficiency: A review].

Martin Michaud1, Wladimir Mauhin2, Thomas Villeneuve3

  • 1Service de médecine interne, clinique Saint-Exupery, rue Varsovie, 31300 Toulouse, France.

La Revue De Medecine Interne
|May 25, 2025
PubMed
Summary

Acid sphingomyelinase deficiency, a rare genetic disorder, causes sphingomyelin buildup. Early recognition and enzyme replacement therapy are crucial for managing this lysosomal storage disease.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Biochemistry
Keywords:
Acid sphingomyelinase deficiencyDéficit en sphingomyélinase acideLysosomal storage diseaseMaladie de Niemann-PickMaladie lysosomaleNiemann-Pick diseaseOlipudase alfaSplenomegalySplénomégalie

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