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Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin.

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Title: Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin.
Authors: Long Y; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Zhang Q; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base of Southern Medical University, Dongguan, China., Ling L; Yangzhou University, Yangzhou, China., Zhuang Y; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Wei X; Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China., Huang H; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Lu Z; Central Laboratory, Chongqing University Fuling Hospital, Chongqing University, Chongqing, China., Huang Y; BGI Research, Shenzhen, China.; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China., Chen X; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Ye Y; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Feng X; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, China., Zhang H; State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, China., Huang B; Department 1 of Internal Medicine, Sixth People's Hospital of Nanning, Nanning, China., Huang Y; Department of Pediatric, Affiliated Hospital of Youjiang Medical University for Nationalities Baise, Baise, China., Liang Y; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Fang M; Central Laboratory, Chongqing University Fuling Hospital, Chongqing University, Chongqing, China., Nakamura Y; Cell Engineering Division, RIKEN BioResource Center, Tsukuba, Japan.; Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan., Lin B; Genetics Laboratory, Guangzhou Huayin Healthcare Group Co, Ltd, Guangzhou, China.; Genetics Laboratory, Guangzhou Jiexu Gene Technology Co, Ltd, Guangzhou, China., Zhang X; Department of Hematology, 923rd Hospital of the People's Liberation Army, Nanning, China., Lu D; State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, China., Jin X; Central Laboratory, Chongqing University Fuling Hospital, Chongqing University, Chongqing, China.; School of Medicine, South China University of Technology, Guangzhou, China., Xu X; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Source: Blood [Blood] 2025 Mar 06; Vol. 145 (10), pp. 1074-1088.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin.
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  Data: <searchLink fieldCode="AU" term="%22Long+Y%22">Long Y</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+Q%22">Zhang Q</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base of Southern Medical University, Dongguan, China.<br /><searchLink fieldCode="AU" term="%22Ling+L%22">Ling L</searchLink>; Yangzhou University, Yangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhuang+Y%22">Zhuang Y</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Wei+X%22">Wei X</searchLink>; Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Huang+H%22">Huang H</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Lu+Z%22">Lu Z</searchLink>; Central Laboratory, Chongqing University Fuling Hospital, Chongqing University, Chongqing, China.<br /><searchLink fieldCode="AU" term="%22Huang+Y%22">Huang Y</searchLink>; BGI Research, Shenzhen, China.; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Chen+X%22">Chen X</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Ye+Y%22">Ye Y</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Feng+X%22">Feng X</searchLink>; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+H%22">Zhang H</searchLink>; State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Huang+B%22">Huang B</searchLink>; Department 1 of Internal Medicine, Sixth People's Hospital of Nanning, Nanning, China.<br /><searchLink fieldCode="AU" term="%22Huang+Y%22">Huang Y</searchLink>; Department of Pediatric, Affiliated Hospital of Youjiang Medical University for Nationalities Baise, Baise, China.<br /><searchLink fieldCode="AU" term="%22Liang+Y%22">Liang Y</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Fang+M%22">Fang M</searchLink>; Central Laboratory, Chongqing University Fuling Hospital, Chongqing University, Chongqing, China.<br /><searchLink fieldCode="AU" term="%22Nakamura+Y%22">Nakamura Y</searchLink>; Cell Engineering Division, RIKEN BioResource Center, Tsukuba, Japan.; Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan.<br /><searchLink fieldCode="AU" term="%22Lin+B%22">Lin B</searchLink>; Genetics Laboratory, Guangzhou Huayin Healthcare Group Co, Ltd, Guangzhou, China.; Genetics Laboratory, Guangzhou Jiexu Gene Technology Co, Ltd, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+X%22">Zhang X</searchLink>; Department of Hematology, 923rd Hospital of the People's Liberation Army, Nanning, China.<br /><searchLink fieldCode="AU" term="%22Lu+D%22">Lu D</searchLink>; State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Jin+X%22">Jin X</searchLink>; Central Laboratory, Chongqing University Fuling Hospital, Chongqing University, Chongqing, China.; School of Medicine, South China University of Technology, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Xu+X%22">Xu X</searchLink>; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
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        Value: 10.1182/blood.2023022688
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              Text: 2025 Mar 06
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