A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface
CLN3 disease is characterised by childhood-onset vision loss and premature death. Using patient-derived retinal cells, the authors show that CLN3 is required for retinal pigment epithelium (RPE) cell structure, microvilli and phagocytosis of photoreceptor outer segments that are essential for vision...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2021-02-01
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| Series: | Communications Biology |
| Online Access: | https://doi.org/10.1038/s42003-021-01682-5 |
| _version_ | 1818952340081737728 |
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| author | Cynthia Tang Jimin Han Sonal Dalvi Kannan Manian Lauren Winschel Stefanie Volland Celia A. Soto Chad A. Galloway Whitney Spencer Michael Roll Caroline Milliner Vera L. Bonilha Tyler B. Johnson Lisa Latchney Jill M. Weimer Erika F. Augustine Jonathan W. Mink Vamsi K. Gullapalli Mina Chung David S. Williams Ruchira Singh |
| author_facet | Cynthia Tang Jimin Han Sonal Dalvi Kannan Manian Lauren Winschel Stefanie Volland Celia A. Soto Chad A. Galloway Whitney Spencer Michael Roll Caroline Milliner Vera L. Bonilha Tyler B. Johnson Lisa Latchney Jill M. Weimer Erika F. Augustine Jonathan W. Mink Vamsi K. Gullapalli Mina Chung David S. Williams Ruchira Singh |
| author_sort | Cynthia Tang |
| collection | DOAJ |
| description | CLN3 disease is characterised by childhood-onset vision loss and premature death. Using patient-derived retinal cells, the authors show that CLN3 is required for retinal pigment epithelium (RPE) cell structure, microvilli and phagocytosis of photoreceptor outer segments that are essential for vision. They further suggest that gene-therapy targeting RPE cells can be effective for CLN3 disease. |
| first_indexed | 2024-12-20T09:48:49Z |
| format | Article |
| id | doaj.art-3a26677720f143228deb8043e7d31748 |
| institution | Directory Open Access Journal |
| issn | 2399-3642 |
| language | English |
| last_indexed | 2024-12-20T09:48:49Z |
| publishDate | 2021-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Communications Biology |
| spelling | doaj.art-3a26677720f143228deb8043e7d317482022-12-21T19:44:41ZengNature PortfolioCommunications Biology2399-36422021-02-014111810.1038/s42003-021-01682-5A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interfaceCynthia Tang0Jimin Han1Sonal Dalvi2Kannan Manian3Lauren Winschel4Stefanie Volland5Celia A. Soto6Chad A. Galloway7Whitney Spencer8Michael Roll9Caroline Milliner10Vera L. Bonilha11Tyler B. Johnson12Lisa Latchney13Jill M. Weimer14Erika F. Augustine15Jonathan W. Mink16Vamsi K. Gullapalli17Mina Chung18David S. Williams19Ruchira Singh20Department of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology, Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine, Molecular Biology Institute, Brain Research Institute, University of CaliforniaDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmic Research, Cleveland ClinicDepartment of Ophthalmic Research, Cleveland ClinicSanford ResearchDepartment of Ophthalmology and Biomedical Genetics, University of RochesterSanford ResearchDepartment of Neurology, University of RochesterDepartment of Neurology, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology and Biomedical Genetics, University of RochesterDepartment of Ophthalmology, Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine, Molecular Biology Institute, Brain Research Institute, University of CaliforniaDepartment of Ophthalmology and Biomedical Genetics, University of RochesterCLN3 disease is characterised by childhood-onset vision loss and premature death. Using patient-derived retinal cells, the authors show that CLN3 is required for retinal pigment epithelium (RPE) cell structure, microvilli and phagocytosis of photoreceptor outer segments that are essential for vision. They further suggest that gene-therapy targeting RPE cells can be effective for CLN3 disease.https://doi.org/10.1038/s42003-021-01682-5 |
| spellingShingle | Cynthia Tang Jimin Han Sonal Dalvi Kannan Manian Lauren Winschel Stefanie Volland Celia A. Soto Chad A. Galloway Whitney Spencer Michael Roll Caroline Milliner Vera L. Bonilha Tyler B. Johnson Lisa Latchney Jill M. Weimer Erika F. Augustine Jonathan W. Mink Vamsi K. Gullapalli Mina Chung David S. Williams Ruchira Singh A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface Communications Biology |
| title | A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface |
| title_full | A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface |
| title_fullStr | A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface |
| title_full_unstemmed | A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface |
| title_short | A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface |
| title_sort | human model of batten disease shows role of cln3 in phagocytosis at the photoreceptor rpe interface |
| url | https://doi.org/10.1038/s42003-021-01682-5 |
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