磷脂酰乙醇胺是 VPS13A 病/毛细血管扩张症患者红细胞中发生改变的主要脂质类别

medRxiv - Neurology Pub Date : 2024-09-01 DOI:10.1101/2024.09.01.24312543

Kevin Peikert, Adrian Spranger, Gabriel Miltenberger-Miltenyi, Hannes Glaß, Björn Falkenburger, Christian Klose, Donatienne Tyteca, Andreas Hermann

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摘要

背景 VPS13A 病（舞蹈棘细胞增多症）是由 VPS13A 功能缺失突变引起的一种超罕见疾病，以纹状体变性和红细胞（RBC）棘细胞增多为特征。VPS13A 是一种桥状蛋白，在膜接触部位介导大量脂质转移。

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

Background 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.

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medRxiv - Neurology

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