A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.

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作者： Cynthia,Tang ^[1] ; Jimin,Han ^[1] ; Sonal,Dalvi ^[1] ; Kannan,Manian ^[1] ; Lauren,Winschel ^[1] ; Stefanie,Volland ^[2] ; Celia A,Soto ^[1] ; Chad A,Galloway ^[1] ; Whitney,Spencer ^[1] ; Michael,Roll ^[1] ; Caroline,Milliner ^[3] ; Vera L,Bonilha ^[3] ; Tyler B,Johnson ^[4] ; Lisa,Latchney ^[1] ; Jill M,Weimer ^[4] ; Erika F,Augustine ^[5] ; Jonathan W,Mink ^[5] ; Vamsi K,Gullapalli ^[1] ; Mina,Chung ^[1] ; David S,Williams ^[6] ; Ruchira,Singh ^[2]

作者单位： Department of Ophthalmology and Biomedical Genetics, University of Rochester, Rochester, NY, USA. ^[1] Department of Ophthalmology, Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine, Molecular Biology Institute, Brain Research Institute, University of California, Los Angeles, CA, USA. ^[2] Department of Ophthalmic Research, Cleveland Clinic, Cleveland, OH, USA. ^[3] Sanford Research, Sioux Falls, SD, USA. ^[4] Department of Neurology, University of Rochester, Rochester, NY, USA. ^[5] Center for Visual Science, University of Rochester, Rochester, NY, USA. ^[6] Department of Ophthalmology and Biomedical Genetics, University of Rochester, Rochester, NY, USA. ruchira_singh@urmc.rochester.edu. ^[7] Center for Visual Science, University of Rochester, Rochester, NY, USA. ruchira_singh@urmc.rochester.edu. ^[8] UR Stem Cell and Regenerative Medicine Center, University of Rochester, Rochester, NY, USA. ruchira_singh@urmc.rochester.edu. ^[9]

主题词细胞系(Cell Line);人类(Humans);诱导多能干细胞(Induced Pluripotent Stem Cells);膜糖蛋白类(Membrane Glycoproteins);微绒毛(Microvilli);分子伴侣(Molecular Chaperones);突变(Mutation);神经元蜡样质脂褐质沉积病(Neuronal Ceroid-Lipofuscinoses);吞噬作用(Phagocytosis);视网膜光感受器细胞外节(Retinal Photoreceptor Cell Outer Segment);视网膜色素上皮(Retinal Pigment Epithelium);信号传导(Signal Transduction)

DOI 10.1038/s42003-021-01682-5

PMID 33547385

发布时间 2023-01-28

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Communications biology

2021年4卷1期

161页

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A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.

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A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.

Communications biology

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