한빛사논문
- 조회1,099
Eun Na Kim1 Hyo-Sang Do2 Hwangkyo Jeong3 Taeho Kim4 Sun Hee Heo2 Yoo-Mi Kim5 Chong Kun Cheon6 Yena Lee7 Yunha Choi7 In Hee Choi8 Jeongmin Choi2 Han-Wook Yoo7 Chong Jai Kim9 Ari Zimran10 Kyunggon Kim11 Beom Hee Lee7,12
1Computational Biology Program, Department of Biomedical Engineering, Oregon Health and Science University, Portland, Oregon, USA 2Asan Institute for Life Sciences, Asan Medical Center, Seoul, Republic of Korea 3Department of Biomedical Sciences, University of Ulsan College of Medicine, Seoul, Republic of Korea 4AniCom Therapeutics, Seoul, Republic of Korea 5Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong, Republic of Korea 6Department of Pediatrics, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea 7Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea 8Department of Genetic Counseling, University of Ulsan College of Medicine, Seoul, Republic of Korea 9Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea 10The Hebrew University Hadassah Medical School, Jerusalem, Israel 11Department of Convergence Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea 12Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
CorrespondenceBeom Hee Lee, Kyunggon Kim
Eun Na Kim and Hyo-Sang Do contributed equally to thisstudy as first authors.
Kyunggon Kim and Beom Hee Lee contributed equally tothis study as corresponding authors.
Abstract
Dear Editor,
In the present study, we delineate the molecular pathways underlying atypical progressions of Gaucher disease (GD) that lead to unresponsiveness to enzyme replacement therapy (ERT). Specifically, we observed the accumulation of dense substrates (e.g., glucosylsphingosine [Lyso-Gb1]), which was associated with alterations in complement activity, autophagy metabolism, macrophage polarization and TGF-β signaling and subsequent endothelial-to-mesenchymal transition (EndMT) and fibrosis. We also describe the potential therapeutic role of ambroxol, a chemical chaperone in GD, and highlight the need for a multi-functional therapeutic approach in managing GD cases with atypical progression.
논문정보
- Research article
- 2022년 05월 (BRIC 등록일 2022-07-18)
- 국내(교신)+국외 연구진
- 의약학 > 유전 및 유전체의학
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