Article

Phosphatidylethanolamines are the main lipid class altered in red blood cells from patients with VPS13A disease/chorea-acanthocytosis

2024-09-01

Abstract excerpt

<h4>Background</h4> VPS13A disease (chorea-acanthocytosis) is an ultra-rare disorder caused by loss of function mutations in VPS13A characterized by striatal degeneration and by red blood cell (RBC) acanthocytosis. VPS13A is a bridge-like protein mediating bulk lipid transfer at membrane contact sites. <h4>Objectives</h4> To assess the lipid composition of patient-derived RBCs. <h4>Methods</h4> RBCs collected from...

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Literature Corpus work: 42b9c9c6-c79c-5ecc-b726-c8f7ecf66d9b
DOI: 10.1101/2024.09.01.24312543

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