Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy

Autor: Chekuri, Anil, Sahu, Bhubanananda, Chavali, Venkata Ramana Murthy, Voronchikhina, Marina, Soto-Hermida, Angel, Suk, John J, Alapati, Akhila N, Bartsch, Dirk-Uwe, Ayala-Ramirez, Raul, Zenteno, Juan C, Dinculescu, Astra, Jablonski, Monica M, Borooah, Shyamanga, Ayyagari, Radha

Publikováno v: Human gene therapy, vol 30, iss 5

Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and optic disc drusen. The disease phenotype is variable,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::918000e240e28bd4393078c7e078c9d5
https://escholarship.org/uc/item/34p3z132

Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP -Associated Retinopathy.

Autor: Chekuri A; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California., Sahu B; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California.; 2 Department of Ophthalmology and Visual sciences, Kentucky Lions Eye Center, University of Louisville, Louisville, Kentucky., Chavali VRM; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California.; 3 Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania., Voronchikhina M; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California., Soto-Hermida A; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California., Suk JJ; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California., Alapati AN; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California., Bartsch DU; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California., Ayala-Ramirez R; 4 Department of Genetics-Research Unit, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico., Zenteno JC; 4 Department of Genetics-Research Unit, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.; 5 Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico., Dinculescu A; 6 Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida., Jablonski MM; 7 Department of Ophthalmology, The University of Tennessee Health Science Center, Hamilton Eye Institute, University of Tennessee, Memphis, Tennessee., Borooah S; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California., Ayyagari R; 1 Shiley Eye Institute, University of California San Diego, La Jolla, California.

Publikováno v: Human gene therapy [Hum Gene Ther] 2019 May; Vol. 30 (5), pp. 632-650. Date of Electronic Publication: 2019 Jan 16.