The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases

The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal... BackgroundErythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinica Chimica Acta Elsevier

The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases

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Publisher
Elsevier
Copyright
Copyright © 2018 Elsevier B.V.
ISSN
0009-8981
eISSN
1873-3492
D.O.I.
10.1016/j.cca.2018.02.010
Publisher site
See Article on Publisher Site

Abstract

BackgroundErythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs.

Journal

Clinica Chimica ActaElsevier

Published: May 1, 2018

References

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