Kevin Peikert, Adrian Spranger, Gabriel Miltenberger-Miltenyi, Hannes Glaß, Björn Falkenburger, Christian Klose, Donatienne Tyteca, Andreas Hermann
{"title":"Phosphatidylethanolamines are the main lipid class altered in red blood cells from patients with VPS13A disease/chorea-acanthocytosis","authors":"Kevin Peikert, Adrian Spranger, Gabriel Miltenberger-Miltenyi, Hannes Glaß, Björn Falkenburger, Christian Klose, Donatienne Tyteca, Andreas Hermann","doi":"10.1101/2024.09.01.24312543","DOIUrl":null,"url":null,"abstract":"<strong>Background</strong> 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.","PeriodicalId":501367,"journal":{"name":"medRxiv - Neurology","volume":"69 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"medRxiv - Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/2024.09.01.24312543","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
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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