Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Steven J. Pittler"'
Autor:
Mai N. Nguyen, Dibyendu Chakraborty, Sriganesh Ramachandra Rao, Agnieszka Onysk, Mariusz Radkiewicz, Liliana Surmacz, Ewa Swiezewska, Eric Soubeyrand, Tariq A. Akhtar, Timothy W. Kraft, David M. Sherry, Steven J. Fliesler, Steven J. Pittler
Publikováno v:
Cell Death and Disease, Vol 14, Iss 7, Pp 1-10 (2023)
Abstract Retinitis pigmentosa (RP) defines a group of hereditary progressive rod-cone degenerations that exhibit a common phenotype caused by variants in over 70 genes. While most variants in the dehydrodolichyl diphosphate synthase (DHDDS) gene resu
Externí odkaz:
https://doaj.org/article/fee4e4b88da74e74bbf913af60ede5b9
Autor:
Elisha Monson, Artur V. Cideciyan, Alejandro J. Roman, Alexander Sumaroka, Malgorzata Swider, Vivian Wu, Iryna Viarbitskaya, Samuel G. Jacobson, Steven J. Fliesler, Steven J. Pittler
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1004 (2024)
Modern advances in disease genetics have uncovered numerous modifier genes that play a role in the severity of disease expression. One such class of genetic conditions is known as inherited retinal degenerations (IRDs), a collection of retinal degene
Externí odkaz:
https://doaj.org/article/c09cc551fc9a48c5bf40e3681aefeacc
Autor:
Steven J. Pittler, Steven J. Fliesler
Publikováno v:
Cells, Vol 12, Iss 15, p 1933 (2023)
The recent success in the treatment of hereditary retinal disease caused by defects in the RPE65 gene and the FDA approval of this treatment has established the importance of the study of animal models and the translational impact of these research f
Externí odkaz:
https://doaj.org/article/933b0421850146ce9b6aef3b48722162
Autor:
Steven J. Fliesler, Sriganesh Ramachandra Rao, Mai N. Nguyen, Mahmoud Tawfik KhalafAllah, Steven J. Pittler
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13324 (2022)
Retinitis pigmentosa-59 (RP59) is a rare, recessive form of RP, caused by mutations in the gene encoding DHDDS (dehydrodolichyl diphosphate synthase). DHDDS forms a heterotetrameric complex with Nogo-B receptor (NgBR; gene NUS1) to form a cis-prenylt
Externí odkaz:
https://doaj.org/article/2947c97b05db40fda1c4f05b55ac66ff
Autor:
Sriganesh Ramachandra Rao, Lara A. Skelton, Fuguo Wu, Agnieszka Onysk, Grzegorz Spolnik, Witold Danikiewicz, Mark C. Butler, Delores A. Stacks, Liliana Surmacz, Xiuqian Mu, Ewa Swiezewska, Steven J. Pittler, Steven J. Fliesler
Publikováno v:
iScience, Vol 23, Iss 6, Pp 101198- (2020)
Summary: Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation
Externí odkaz:
https://doaj.org/article/81a55c7b9d8749cbbf5fd2924ed7aa4e
Autor:
Sriganesh Ramachandra Rao, Steven J. Fliesler, Pravallika Kotla, Mai N. Nguyen, Steven J. Pittler
Publikováno v:
Cells, Vol 9, Iss 4, p 896 (2020)
Dehydrodolichyl diphosphate synthase (DHDDS) is required for protein N-glycosylation in eukaryotic cells. A K42E point mutation in the DHDDS gene causes an autosomal recessive form of retinitis pigmentosa (RP59), which has been classified as a congen
Externí odkaz:
https://doaj.org/article/e3be368ab7304d50955db199541368e4
Autor:
Marci L. DeRamus, Stephanie J. Davis, Sriganesh Ramachandra Rao, Cyril Nyankerh, Delores Stacks, Timothy W. Kraft, Steven J. Fliesler, Steven J. Pittler
Publikováno v:
Cells, Vol 9, Iss 3, p 771 (2020)
Patients with certain defects in the dehydrodolichyl diphosphate synthase (DHDDS) gene (RP59; OMIM #613861) exhibit classic symptoms of retinitis pigmentosa, as well as macular changes, suggestive of retinal pigment epithelium (RPE) involvement. The
Externí odkaz:
https://doaj.org/article/27ad3692be444ef98b2d6b802ae89ee6
Autor:
Mark C. Butler, Sriganesh Ramachandra Rao, Delores A. Stacks, Agnieszka Onysk, Fuguo Wu, Liliana Surmacz, Lara A. Skelton, Xiuqian Mu, Steven J. Fliesler, Ewa Swiezewska, Witold Danikiewicz, Steven J. Pittler, Grzegorz Spólnik
Publikováno v:
iScience, Vol 23, Iss 6, Pp 101198-(2020)
iScience
iScience
Summary Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3270b685700e7e9fae8d0e12466bffcd
http://www.sciencedirect.com/science/article/pii/S2589004220303837
http://www.sciencedirect.com/science/article/pii/S2589004220303837
Autor:
Timothy W. Kraft, Sriganesh Ramachandra Rao, Steven J. Fliesler, Steven J. Pittler, Stephanie J. Davis, Delores A. Stacks, Marci L DeRamus, Cyril Nii Amankwah Nyankerh
Publikováno v:
Cells
Volume 9
Issue 3
Cells, Vol 9, Iss 3, p 771 (2020)
Volume 9
Issue 3
Cells, Vol 9, Iss 3, p 771 (2020)
Patients with certain defects in the dehydrodolichyl diphosphate synthase (DHDDS) gene (RP59
OMIM #613861) exhibit classic symptoms of retinitis pigmentosa, as well as macular changes, suggestive of retinal pigment epithelium (RPE) involvement.
OMIM #613861) exhibit classic symptoms of retinitis pigmentosa, as well as macular changes, suggestive of retinal pigment epithelium (RPE) involvement.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d7391af164abc63e444ad84cb89052a
https://pubmed.ncbi.nlm.nih.gov/32245241
https://pubmed.ncbi.nlm.nih.gov/32245241
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Rod photoreceptor outer segment (OS) morphogenesis, structural integrity, and proper signal transduction rely on critical proteins found in the different OS membrane domains (e.g., plasma, disc, and disc rim membrane). Among these key element
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b9d6c4c1c2465c7650d732ff63a43c1
http://europepmc.org/articles/PMC4777275
http://europepmc.org/articles/PMC4777275