Scientific Commons: Samuel G. Jacobson

ABCA4 disease progression and a proposed strategy for gene therapy (2009)

Cideciyan, Artur V., Swider, Malgorzata, Aleman, Tomas S., Tsybovsky, Yaroslav, Schwartz, Sharon B., Windsor, Elizabeth A.M., ...

Autosomal recessive retinal diseases caused by mutations in the ABCA4 gene are being considered for gene replacement therapy. All individuals with ABCA4-disease show macular degeneration, but only...

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate (2009)

Maeda, Tadao, Cideciyan, Artur V., Maeda, Akiko, Golczak, Marcin, Aleman, Tomas S., Jacobson, Samuel G., ...

Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans. Both enzymes...

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism (2008)

Jacobson, Samuel G., Cideciyan, Artur V., Aleman, Tomas S., Sumaroka, Alexander, Roman, Alejandro J., Gardner, Leigh M., ...

Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading to the blinding retinal degeneration in USH is uncertain. There is...

Canine and Human Visual Cortex Intact and Responsive Despite Early Retinal Blindness from RPE65 Mutation (2007)

Geoffrey K. Aguirre, András M. Komáromy, Artur V. Cideciyan, David H. Brainard, Tomas S. Aleman, Alejandro J. Roman, ...

BackgroundRPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA). Somatic gene therapy...

Human cone photoreceptor dependence on RPE65 isomerase. (2007)

Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Heon, Elise, Golczak, Marcin, Beltran, William A., ...

The visual (retinoid) cycle, the enzymatic pathway that regenerates chromophore after light absorption, is located primarily in the retinal pigment epithelium (RPE) and is essential for rod...

Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness (2006)

Melissa L. Williams, Jason E. Coleman, Shannon E. Haire, Tomas S. Aleman, Artur V. Cideciyan, Izabel Sokal, ...

BackgroundLeber congenital amaurosis (LCA) is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children. Mutations in the GUCY2D gene that encodes...

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. (2006)

Williams, Melissa L, Coleman, Jason E, Haire, Shannon E, Aleman, Tomas S, Cideciyan, Artur V, Sokal, Izabel, ...

BACKGROUND: Leber congenital amaurosis (LCA) is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children. Mutations in the GUCY2D gene that...

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (2006)

Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., ...

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development (2006)

Cheng, Hong, Aleman, Tomas S., Cideciyan, Artur V., Khanna, Ritu, Jacobson, Samuel G., Swaroop, Anand

Rod and cone photoreceptors in mammalian retina are generated from common pool(s) of neuroepithelial progenitors. NRL, CRX and NR2E3 are key transcriptional regulators that control photoreceptor...

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development (2006)

Cheng, Hong, Aleman, Tomas S., Cideciyan, Artur V., Khanna, Ritu, Jacobson, Samuel G., Swaroop, Anand

Rod and cone photoreceptors in mammalian retina are generated from common pool(s) of neuroepithelial progenitors. NRL, CRX and NR2E3 are key transcriptional regulators that control photoreceptor...

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia (2005)

Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B, Jägle, Herbert, ...

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (2005)

Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., ...

Retinoid dehydrogenases/reductases catalyze key oxidation–reduction reactions in the visual cycle that converts vitamin A to 11-cis retinal, the chromophore of the rod and cone photoreceptors. It...

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (2005)

Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., ...

Retinoid dehydrogenases/reductases catalyze key oxidation-reduction reactions in the visual cycle that converts vitamin A to 11-cis retinal, the chromophore of the rod and cone photoreceptors. It has...

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence (2004)

Cideciyan, Artur V., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Steinberg, Janet D., Brucker, Alexander J., ...

Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including...

QRX, a Novel Homeobox Gene, Modulates Photoreceptor Gene Expression (2004)

Wang, Qing-liang, Chen, Shiming, Esumi, Noriko, Swain, Prabodh K., Haines, Heidi S., Peng, Guanghua, ...

A novel paired-like homeobox gene, designated as Qrx, was identified by a yeast one-hybrid screen using the bovine Rhodopsin promoter Ret-1 DNA regulatory element as bait. Qrx is preferentially...

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration (2004)

Jacobson, Samuel G., Sumaroka, Alexander, Aleman, Tomas S., Cideciyan, Artur V., Schwartz, Sharon B., Roman, Alejandro J., ...

Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone...

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence (2004)

Cideciyan, Artur V., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Steinberg, Janet D., Brucker, Alexander J., ...

Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including...

QRX, a novel homeobox gene, modulates photoreceptor gene expression (2004)

Wang, Qing-liang, Chen, Shiming, Esumi, Noriko, Swain, Prabodh K., Haines, Heidi S., Peng, Guanghua, ...

A novel paired-like homeobox gene, designated as Qrx, was identified by a yeast one-hybrid screen using the bovine Rhodopsin promoter Ret-1 DNA regulatory element as bait. Qrx is preferentially...

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration (2004)

Jacobson, Samuel G., Sumaroka, Alexander, Aleman, Tomas S., Cideciyan, Artur V., Schwartz, Sharon B., Roman, Alejandro J., ...

Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone...

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence (2004)

Cideciyan, Artur V., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Steinberg, Janet D., Brucker, Alexander J., ...

Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including...

QRX, a Novel Homeobox Gene, Modulates Photoreceptor Gene Expression (2004)

Wang, Qing-liang, Chen, Shiming, Esumi, Noriko, Swain, Prabodh K., Haines, Heidi S., Peng, Guanghua, ...

A novel paired-like homeobox gene, designated as Qrx, was identified by a yeast one-hybrid screen using the bovine Rhodopsin promoter Ret-1 DNA regulatory element as bait. Qrx is preferentially...

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration (2004)

Jacobson, Samuel G., Sumaroka, Alexander, Aleman, Tomas S., Cideciyan, Artur V., Schwartz, Sharon B., Roman, Alejandro J., ...

Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone...

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration - a genetic model for age-related macular degeneration (2003)

Hayward, Caroline, Shu, Xinhua, Cideciyan, Artur V, Lennon, Alan, Barran, Perdita, Zareparsi, Sepideh, ...