GUCY2D-LCA

Summary

GUCY2D-LCA summary

12 Publications On GUCY2D-LCA

220. Jacobson SG, CIDECIYAN AV, Ho AC, Peshenko IV, Garafalo AV, Roman AJ, Sumaroka A, Wu V, Krishnan AK, Sheplock R, Boye SL, Dizhoor AM, Boye SE. Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations. iScience, 24, 102409, 2021. [PubMed] [DOI] [Clinicaltrials.gov] [Penn Press Release]

218. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV. Leber congenital amaurosis due to GUCY2D mutations: Longitudinal analysis of retinal structure and visual function. International Journal of Molecular Sciences, 22(4), 2031, 2021. [PubMed] [DOI]

199. CIDECIYAN AV, Jacobson SG. Leber Congenital Amaurosis (LCA): Potential for improvement of vision. Investigative Ophthalmology & Visual Science, 60(5):1680-1695. [PubMed]

188. Stunkel ML, Brodie SE, CIDECIYAN AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D. American Journal of Ophthalmology, 190:58–68, 2018. [PubMed]

180. Charng J, Jacobson SG, Heon E, Roman AJ, McGuigan DB, Sheplock R, Kosyk MS, Swider M, CIDECIYAN AV. Pupillary light reflexes in severe photoreceptor blindness isolate the melanopic component of intrinsically photosensitive retinal ganglion cells. Investigative Ophthalmology & Visual Science 58:3215-3224, 2017. [PubMed]

172. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. Defining outcomes for clinical trials of Leber congenital amaurosis caused by GUCY2D mutations. American Journal of Ophthalmology 77:44–57, 2017. [PubMed]

171. Aguirre  GK, Butt OH, Datta R, Roman AJ, Sumaroka A, Schwartz SB, CIDECIYAN AV, Samuel G. Jacobson. Postretinal structure and function in severe congenital photoreceptor blindness caused by mutations in the GUCY2D gene. Investigative Ophthalmology & Visual Science 58:959-973, 2017. [PubMed]

155. Jacobson SG, CIDECIYAN AV, Huang WC, Sumaroka A, Nam HJ, Sheplock R, Schwartz SB. Leber congenital amaurosis: Genotypes and retinal structure phenotypes. Advances in Experimental Medicine and Biology 854:169-75, 2016. [PubMed]

128. Jacobson SG, CIDECIYAN AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau K-W, Heon E, Stone EM, Dizhoor AM. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Human Molecular Genetics, 22:168-183, 2013. [PubMed]

74. Williams ML, Coleman JE, Haire SE, Aleman TS, CIDECIYAN AV, Sokal I, Palczewski K, Jacobson SG, Semple-Rowland SL. Lentiviral expression of retinal Guanylate Cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS Medicine 3:e201, 2006. [PubMed]

55. Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, CIDECIYAN AV, Sheffield VC, Stone EM, Jacobson SG. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology 110:549-558, 2003. [PubMed]

Last updated March 7, 2021