Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.

Autor: Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: cideciya@pennmedicine.upenn.edu., Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Swider M; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Krishnan AK; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Sheplock R; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Garafalo AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Guziewicz KE; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Aguirre GD; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Beltran WA; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Matsui Y; Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan., Kondo M; Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan., Heon E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 2L3, Canada.

Publikováno v: Vision research [Vision Res] 2023 Feb; Vol. 203, pp. 108157. Date of Electronic Publication: 2022 Nov 28.

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.

Autor: Guziewicz KE; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104; karinag@vet.upenn.edu cideciya@pennmedicine.upenn.edu., Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; karinag@vet.upenn.edu cideciya@pennmedicine.upenn.edu., Beltran WA; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104., Komáromy AM; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104.; Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824., Dufour VL; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104., Swider M; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104., Iwabe S; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104., Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104., Kendrick BT; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104., Ruthel G; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104., Chiodo VA; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL 32611., Héon E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 2L3, Canada., Hauswirth WW; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL 32611., Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104., Aguirre GD; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2018 Mar 20; Vol. 115 (12), pp. E2839-E2848. Date of Electronic Publication: 2018 Mar 05.

Bestrophinopathy: An RPE-photoreceptor interface disease.

Autor: Guziewicz KE; Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, PA 19104, USA. Electronic address: karinag@vet.upenn.edu., Sinha D; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; McPherson Eye Research Institute, University of Wisconsin-Madison, Madison, WI 53705, USA., Gómez NM; Department of Anatomy & Cell Biology, School of Dental Medicine, University of Pennsylvania, PA 19104, USA., Zorych K; Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, PA 19104, USA., Dutrow EV; Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, PA 19104, USA., Dhingra A; Department of Biochemistry, School of Dental Medicine, University of Pennsylvania, PA 19104, USA., Mullins RF; Department of Ophthalmology & Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Stone EM; Department of Ophthalmology & Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Gamm DM; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; McPherson Eye Research Institute, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Ophthalmology & Visual Sciences, University of Wisconsin-Madison, Madison, WI 53705, USA., Boesze-Battaglia K; Department of Biochemistry, School of Dental Medicine, University of Pennsylvania, PA 19104, USA., Aguirre GD; Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, PA 19104, USA.

Publikováno v: Progress in retinal and eye research [Prog Retin Eye Res] 2017 May; Vol. 58, pp. 70-88. Date of Electronic Publication: 2017 Jan 19.

Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration.

Autor: Singh R; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA; McPherson Eye Research Institute, University of Wisconsin, Madison, Wisconsin, USA., Kuai D; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Guziewicz KE; Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Meyer J; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Wilson M; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Lu J; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Smith M; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Clark E; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Verhoeven A; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Aguirre GD; Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gamm DM; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA; McPherson Eye Research Institute, University of Wisconsin, Madison, Wisconsin, USA; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA. Electronic address: dgamm@wisc.edu.

Publikováno v: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2015 Nov; Vol. 23 (11), pp. 1700-1711. Date of Electronic Publication: 2015 Aug 24.

Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations.

Autor: Beltran WA; Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Cideciyan AV; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Guziewicz KE; Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Iwabe S; Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Swider M; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Scott EM; Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Savina SV; Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Ruthel G; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Stefano F; Department of Biochemistry, School of Dental Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Zhang L; Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Zorger R; Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Sumaroka A; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Jacobson SG; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Aguirre GD; Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

Publikováno v: PloS one [PLoS One] 2014 Mar 05; Vol. 9 (3), pp. e90390. Date of Electronic Publication: 2014 Mar 05 (Print Publication: 2014).