Publications

Found 1 results
Filters: Author is S. Marchi  [Clear All Filters]
2012
M. Oldani, Marchi, S., Giani, A., Cecchin, S., Rigoni, E., Persi, A., Podavini, D., Guerrini, A., Nervegna, A., Staurenghi, G., and Bertelli, M., 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