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
Description
ISSN:1528-0020
DOI:10.1182/blood.2023022688