Communications Biology (Feb 2021)
A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface
- 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
Affiliations
- Cynthia Tang
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Jimin Han
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Sonal Dalvi
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Kannan Manian
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Lauren Winschel
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Stefanie Volland
- Department of Ophthalmology, Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine, Molecular Biology Institute, Brain Research Institute, University of California
- Celia A. Soto
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Chad A. Galloway
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Whitney Spencer
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Michael Roll
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Caroline Milliner
- Department of Ophthalmic Research, Cleveland Clinic
- Vera L. Bonilha
- Department of Ophthalmic Research, Cleveland Clinic
- Tyler B. Johnson
- Sanford Research
- Lisa Latchney
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Jill M. Weimer
- Sanford Research
- Erika F. Augustine
- Department of Neurology, University of Rochester
- Jonathan W. Mink
- Department of Neurology, University of Rochester
- Vamsi K. Gullapalli
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- Mina Chung
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- David S. Williams
- Department of Ophthalmology, Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine, Molecular Biology Institute, Brain Research Institute, University of California
- Ruchira Singh
- Department of Ophthalmology and Biomedical Genetics, University of Rochester
- DOI
- https://doi.org/10.1038/s42003-021-01682-5
- Journal volume & issue
-
Vol. 4,
no. 1
pp. 1 – 18
Abstract
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.
