Pittler SJ - Search Results

1

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.

Van Hooser JP, Aleman TS, He YG, Cideciyan AV, Kuksa V, Pittler SJ, Stone EM, Jacobson SG, Palczewski K. Van Hooser JP, et al. Among authors: pittler sj. Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8623-8. doi: 10.1073/pnas.150236297. Proc Natl Acad Sci U S A. 2000. PMID: 10869443 Free PMC article.

2

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse.

Pittler SJ, Baehr W. Pittler SJ, et al. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8322-6. doi: 10.1073/pnas.88.19.8322. Proc Natl Acad Sci U S A. 1991. PMID: 1656438 Free PMC article.

3

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ. Simovich MJ, et al. Among authors: pittler sj. Hum Mutat. 2001 Aug;18(2):164. doi: 10.1002/humu.1168. Hum Mutat. 2001. PMID: 11462243

4

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Jacobson SG, et al. Among authors: pittler sj. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6177-82. doi: 10.1073/pnas.0500646102. Epub 2005 Apr 18. Proc Natl Acad Sci U S A. 2005. PMID: 15837919 Free PMC article.

5

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.

Monson E, Cideciyan AV, Roman AJ, Sumaroka A, Swider M, Wu V, Viarbitskaya I, Jacobson SG, Fliesler SJ, Pittler SJ. Monson E, et al. Among authors: pittler sj. Int J Mol Sci. 2024 Jan 13;25(2):1004. doi: 10.3390/ijms25021004. Int J Mol Sci. 2024. PMID: 38256083 Free PMC article.

6

PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect.

Pittler SJ, Keeler CE, Sidman RL, Baehr W. Pittler SJ, et al. Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9616-9. doi: 10.1073/pnas.90.20.9616. Proc Natl Acad Sci U S A. 1993. PMID: 8415750 Free PMC article.

7

Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration.

DeRamus ML, Davis SJ, Rao SR, Nyankerh C, Stacks D, Kraft TW, Fliesler SJ, Pittler SJ. DeRamus ML, et al. Among authors: pittler sj. Cells. 2020 Mar 21;9(3):771. doi: 10.3390/cells9030771. Cells. 2020. PMID: 32245241 Free PMC article.

8

The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility.

Ding XQ, Thapa A, Ma H, Xu J, Elliott MH, Rodgers KK, Smith ML, Wang JS, Pittler SJ, Kefalov VJ. Ding XQ, et al. Among authors: pittler sj. J Biol Chem. 2016 Apr 15;291(16):8721-34. doi: 10.1074/jbc.M115.696138. Epub 2016 Feb 18. J Biol Chem. 2016. PMID: 26893377 Free PMC article.

9

Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59.

Ramachandra Rao S, Fliesler SJ, Kotla P, Nguyen MN, Pittler SJ. Ramachandra Rao S, et al. Among authors: pittler sj. Cells. 2020 Apr 7;9(4):896. doi: 10.3390/cells9040896. Cells. 2020. PMID: 32272552 Free PMC article.

10

A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission.

Nguyen MN, Chakraborty D, Rao SR, Onysk A, Radkiewicz M, Surmacz L, Swiezewska E, Soubeyrand E, Akhtar TA, Kraft TW, Sherry DM, Fliesler SJ, Pittler SJ. Nguyen MN, et al. Among authors: pittler sj. Cell Death Dis. 2023 Jul 13;14(7):420. doi: 10.1038/s41419-023-05936-4. Cell Death Dis. 2023. PMID: 37443173 Free PMC article.

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