- 专利标题: USE OF THE EMM ANTIGEN AS A BIOMARKER OF INHERITED GPI DEFICIENCIES
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申请号: US18256453申请日: 2021-12-08
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公开(公告)号: US20240103019A1公开(公告)日: 2024-03-28
- 发明人: Thierry PEYRARD , Slim AZOUZI , Oliver HERMINE , Yves COLIN-ARONOVICZ , Romain DUVAL , Caroline LE VAN KIM
- 申请人: INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE , ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS , CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS) , FONDATION IMAGINE , UNIVERSITÉ PARIS CITÉ , UNIVERSITE ANTILLES GUYANE , ETABLISSEMENT FRAN¿AIS DU SANG (EFS)
- 申请人地址: FR Paris
- 专利权人: INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE,ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS,CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS),FONDATION IMAGINE,UNIVERSITÉ PARIS CITÉ,UNIVERSITE ANTILLES GUYANE,ETABLISSEMENT FRAN¿AIS DU SANG (EFS)
- 当前专利权人: INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE,ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS,CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS),FONDATION IMAGINE,UNIVERSITÉ PARIS CITÉ,UNIVERSITE ANTILLES GUYANE,ETABLISSEMENT FRAN¿AIS DU SANG (EFS)
- 当前专利权人地址: FR Paris
- 优先权: EP 306520.6 2020.12.09
- 国际申请: PCT/EP2021/084699 2021.12.08
- 进入国家日期: 2023-06-08
- 主分类号: G01N33/68
- IPC分类号: G01N33/68 ; G01N33/80
摘要:
Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors more than 150 proteins to the cell surface. Pathogenic variants in several genes that participate in GPI biosynthesis cause inherited GPI deficiency (IGD) disorders. Here, the inventors reported that homozygous null alleles of PIGG, a gene involved in GPI modification, are responsible for the rare Emm-negative blood phenotype. Using a panel of K562 cells defective in both the GPI-transamidase and GPI remodeling pathways, they demonstrate that the Emm antigen, whose molecular basis has remained unknown for decades, is carried only by free GPI and that its epitope is composed of the second and third ethanolamine of the GPI backbone. Importantly, the inventors show that the decrease in Emm expression in several IGD patients is indicative of GPI defects. Overall, our findings establish Emm as a novel blood group system and have important implications for understanding the biological function of human free GPI.
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