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Items: 1 to 20 of 260

1.

Altered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosis.

Hernández M, Pearce-Kelling SE, Rodriguez FD, Aguirre GD, Vecino E.

Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6793-802. doi: 10.1167/iovs.10-5213. Epub 2010 Jul 29.

2.

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komáromy AM, Hauswirth WW, Aguirre GD.

Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25. doi: 10.1073/pnas.1218933110. Epub 2013 Jan 22.

3.

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.

Mol Vis. 2005 Feb 28;11:152-62.

5.

Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis.

Li X, Li W, Dai X, Kong F, Zheng Q, Zhou X, Lü F, Chang B, Rohrer B, Hauswirth WW, Qu J, Pang JJ.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):7-15. doi: 10.1167/iovs.10-6138. Print 2011 Jan.

6.

Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.

Li S, Samardzija M, Yang Z, Grimm C, Jin M.

J Neurosci. 2016 May 25;36(21):5808-19. doi: 10.1523/JNEUROSCI.3857-15.2016.

7.

Rpe65-/- and Lrat-/- mice: comparable models of leber congenital amaurosis.

Fan J, Rohrer B, Frederick JM, Baehr W, Crouch RK.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2384-9. doi: 10.1167/iovs.08-1727. Epub 2008 Feb 22.

8.

Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.

Bonilha VL, Rayborn ME, Li Y, Grossman GH, Berson EL, Hollyfield JG.

Invest Ophthalmol Vis Sci. 2011 Oct 28;52(11):8381-92. doi: 10.1167/iovs.11-7973.

9.

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

van der Spuy J, Munro PM, Luthert PJ, Preising MN, Bek T, Heegaard S, Cheetham ME.

Mol Vis. 2005 Jul 22;11:542-53.

10.

Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice.

Escher P, Schorderet DF, Cottet S.

Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5933-40. doi: 10.1167/iovs.10-6978.

PMID:
21715356
11.

Light prevents exogenous 11-cis retinal from maintaining cone photoreceptors in chromophore-deficient mice.

Fan J, Crouch RK, Kono M.

Invest Ophthalmol Vis Sci. 2011 Apr 14;52(5):2412-6. doi: 10.1167/iovs.10-6437. Print 2011 Apr.

12.

Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration.

Hamann S, Schorderet DF, Cottet S.

PLoS One. 2009 Aug 12;4(8):e6616. doi: 10.1371/journal.pone.0006616.

13.

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.

Bemelmans AP, Kostic C, Crippa SV, Hauswirth WW, Lem J, Munier FL, Seeliger MW, Wenzel A, Arsenijevic Y.

PLoS Med. 2006 Oct;3(10):e347.

14.

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Aleman TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG.

PLoS Med. 2007 Jun;4(6):e230.

15.

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.

Caruso RC, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Mullins CL, Boye SL, Hauswirth WW, Jacobson SG.

Invest Ophthalmol Vis Sci. 2010 Oct;51(10):5304-13. doi: 10.1167/iovs.10-5559. Epub 2010 May 19.

PMID:
20484585
16.

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.

Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG.

Mol Ther. 2005 Dec;12(6):1072-82. Epub 2005 Oct 14.

17.

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.

Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4573-7. doi: 10.1167/iovs.08-2121. Epub 2008 Jun 6.

18.

RPE65 gene therapy slows cone loss in Rpe65-deficient dogs.

Mowat FM, Breuwer AR, Bartoe JT, Annear MJ, Zhang Z, Smith AJ, Bainbridge JW, Petersen-Jones SM, Ali RR.

Gene Ther. 2013 May;20(5):545-55. doi: 10.1038/gt.2012.63. Epub 2012 Sep 6.

PMID:
22951453
19.

Human cone photoreceptor dependence on RPE65 isomerase.

Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15123-8. Epub 2007 Sep 11.

20.

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Cideciyan AV.

Prog Retin Eye Res. 2010 Sep;29(5):398-427. doi: 10.1016/j.preteyeres.2010.04.002. Epub 2010 Apr 24. Review.

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