User profiles for S. G. Jacobson

Samuel G. Jacobson

Professor of Ophthalmology, University of Pennsylvania
Verified email at mail.med.upenn.edu
Cited by 41731

The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders

AN Bramall, AF Wright, SG Jacobson… - Annual review of …, 2010 - annualreviews.org
The association of more than 140 genes with human photoreceptor degenerations, together
with studies of animal models of these monogenic diseases, has provided great insight into …

[HTML][HTML] Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives

…, A Sumaroka, GD Aguirre, SG Jacobson - Progress in retinal and …, 2020 - Elsevier
Due to improved phenotyping and genetic characterization, the field of ‘incurable’ and ‘blinding’
inherited retinal diseases (IRDs) has moved substantially forward. Decades of …

Gene therapy restores vision in a canine model of childhood blindness

…, V Anand, Y Zeng, AM Maguire, SG Jacobson… - Nature …, 2001 - nature.com
The relationship between the neurosensory photoreceptors and the adjacent retinal pigment
epithelium (RPE) controls not only normal retinal function, but also the pathogenesis of …

Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a …

…, SL Boye, TR Flotte, BJ Byrne, SG Jacobson - Human gene …, 2008 - liebertpub.com
… Roman AJSchwartz SBStone EMJacobson SG2008Retinal laminar architecture in
human retinitis pigmentosa caused by rhodopsin gene mutationsInvest. Ophthalmol. Vis. …

Lifespan and mitochondrial control of neurodegeneration

AF Wright, SG Jacobson, AV Cideciyan, AJ Roman… - Nature …, 2004 - nature.com
We examine the allometric (comparative scaling) relationships between rates of
neurodegeneration resulting from equivalent mutations in a diverse group of genes from five …

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

…, EM Stone, BJ Byrne, SG Jacobson… - Proceedings of the …, 2008 - National Acad Sciences
The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that
underlies mammalian vision. Mutations in RPE65 disrupt the retinoid cycle and cause a …

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

…, Y Li, DA Thompson, J Weir, U Orth, SG Jacobson… - Nature …, 2000 - nature.com
Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS)
rat 1 results in defective phagocytosis of photoreceptor outer segments by the retinal …

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

SG Jacobson, AV Cideciyan… - Archives of …, 2012 - jamanetwork.com
Jacobson SG, Cideciyan AV. … Jacobson had full access to all the data in the study and takes
responsibility for the integrity of the data and the accuracy of the data analysis. Drs Jacobson

[HTML][HTML] Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

…, LC Tsui, A Loutradis-Anagnostou, SG Jacobson… - Cell, 1997 - cell.com
Genes associated with inherited retinal degeneration have been found to encode proteins
required for phototransduction, metabolism, or structural support of photoreceptors. Here we …

[HTML][HTML] Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness

…, K Palczewski, WW Hauswirth, SG Jacobson - Molecular Therapy, 2005 - cell.com
The short- and long-term effects of gene therapy using AAV-mediated RPE65 transfer to
canine retinal pigment epithelium were investigated in dogs affected with disease caused by …