Publications
Found 1 results
Filters: Author is D. Podavini [Clear All Filters]
“Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease”, vol. 11, pp. 4342-4350, 2012.
, Allikmets R (1997). A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 17: 122.
http://dx.doi.org/10.1038/ng0997-122b
PMid:9288113
Allikmets R, Shroyer NF, Singh N, Seddon JM, et al. (1997). Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277: 1805-1807.
http://dx.doi.org/10.1126/science.277.5333.1805
PMid:9295268
Beharry S, Zhong M and Molday RS (2004). N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR). J. Biol. Chem. 279: 53972-53979.
http://dx.doi.org/10.1074/jbc.M405216200
PMid:15471866
Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, et al. (2001). Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest. Ophthalmol. Vis. Sci. 42: 2229-2236.
PMid:11527935
Bungert S, Molday LL and Molday RS (2001). Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. J. Biol. Chem. 276: 23539-23546.
http://dx.doi.org/10.1074/jbc.M101902200
PMid:11320094
Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, et al. (2009). ABCA4 disease progression and a proposed strategy for gene therapy. Hum. Mol. Genet. 18: 931-941.
PMid:19074458 PMCid:2640207
Colafrancesco V, Parisi V, Sposato V, Rossi S, et al. (2011). Ocular application of nerve growth factor protects degenerating retinal ganglion cells in a rat model of glaucoma. J. Glaucoma 20: 100-108.
http://dx.doi.org/10.1097/IJG.0b013e3181d787e5
PMid:20436364
Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, et al. (1998). Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet. 7: 355-362.
http://dx.doi.org/10.1093/hmg/7.3.355
PMid:9466990
Dahlmann-Noor A, Vijay S, Jayaram H, Limb A, et al. (2010). Current approaches and future prospects for stem cell rescue and regeneration of the retina and optic nerve. Can. J. Ophthalmol. 45: 333-341.
http://dx.doi.org/10.3129/i10-077
PMid:20648090
Fishman GA (1976). Fundus flavimaculatus. A clinical classification. Arch. Ophthalmol. 94: 2061-2067.
http://dx.doi.org/10.1001/archopht.1976.03910040721003
PMid:999551
Gerber S, Rozet JM, Bonneau D, Souied E, et al. (1995). A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am. J. Hum. Genet. 56: 396-399.
PMid:7847373 PMCid:1801138
Golczak M, Kuksa V, Maeda T, Moise AR, et al. (2005). Positively charged retinoids are potent and selective inhibitors of the trans-cis isomerization in the retinoid (visual) cycle. Proc. Natl. Acad. Sci. U. S. A. 102: 8162-8167.
http://dx.doi.org/10.1073/pnas.0503318102
PMid:15917330 PMCid:1149451
Illing M, Molday LL and Molday RS (1997). The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J. Biol. Chem. 272: 10303-10310.
http://dx.doi.org/10.1074/jbc.272.15.10303
PMid:9092582
Jaakson K, Zernant J, Kulm M, Hutchinson A, et al. (2003). Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum. Mutat. 22: 395-403.
http://dx.doi.org/10.1002/humu.10263
PMid:14517951
Kaplan J, Gerber S, Larget-Piet D, Rozet JM, et al. (1993). A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat. Genet. 5: 308-311.
http://dx.doi.org/10.1038/ng1193-308
PMid:8275096
Lambiase A, Mantelli F and Bonini S (2010). Nerve growth factor eye drops to treat glaucoma. Drug News Perspect. 23: 361-367.
PMid:20697603
Molday RS, Zhong M and Quazi F (2009). The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. Biochim. Biophys. Acta 1791: 573-583.
http://dx.doi.org/10.1016/j.bbalip.2009.02.004
PMid:19230850 PMCid:2746242
Nasonkin I, Illing M, Koehler MR, Schmid M, et al. (1998). Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. Hum. Genet. 102: 21-26.
http://dx.doi.org/10.1007/s004390050649
PMid:9490294
Passerini I, Sodi A, Giambene B, Mariottini A, et al. (2010). Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. Eye 24: 158-164.
http://dx.doi.org/10.1038/eye.2009.35
PMid:19265867
Rozet JM, Gerber S, Souied E, Ducroq D, et al. (1999). The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly. Mol. Genet. Metab. 68: 310-315.
http://dx.doi.org/10.1006/mgme.1999.2925
PMid:10527682
Simonelli F, Testa F, Zernant J, Nesti A, et al. (2005). Genotype-phenotype correlation in Italian families with Stargardt disease. Ophthalmic Res. 37: 159-167.
http://dx.doi.org/10.1159/000086073
PMid:15942264
Sodi A, Bini A, Passerini I, Forconi S, et al. (2010). Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease. Ophthalmic Surg. Lasers Imaging 41: 48-53.
http://dx.doi.org/10.3928/15428877-20091230-09
PMid:20128570
Sparrow JR, Nakanishi K and Parish CA (2000). The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells. Invest. Ophthalmol. Vis. Sci. 41: 1981-1989.
PMid:10845625