Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients

The core neuroacanthocytosis syndromes, i.e., chorea-acanthocytosis/VPS13A disease (ChAc) and McLeod syndrome/XK disease (MLS), are respectively due to mutations in VPS13A and XK genes and share similar manifestations including the formation of acanthocytes. We previously showed by lipidomics of red...

Full description

Saved in:
Bibliographic Details
Main Authors: Anne-Sophie Cloos, Marine Ghodsi, Amaury Stommen, Steffen M. Recktenwald, Lars Kaestner, Adrian Danek, Adrian Spranger, Andreas Hermann, Kevin Peikert, Donatienne Tyteca
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Physiology
Subjects:
acanthocytes
lipid domains
cholesterol
ceramide
sphingomyelin
spectrin cytoskeleton
Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2025.1543812/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.frontiersin.org/articles/10.3389/fphys.2025.1543812/full

Similar Items