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4. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Cideciyan AV; Rachel RA; Aleman TS; Swider M; Schwartz SB; Sumaroka A; Roman AJ; Stone EM; Jacobson SG; Swaroop A Hum Mol Genet; 2011 Apr; 20(7):1411-23. PubMed ID: 21245082 [TBL] [Abstract][Full Text] [Related]
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11. 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 Proc Natl Acad Sci U S A; 2005 Apr; 102(17):6177-82. PubMed ID: 15837919 [TBL] [Abstract][Full Text] [Related]
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13. Fundus autofluorescence in patients with leber congenital amaurosis. Scholl HP; Chong NH; Robson AG; Holder GE; Moore AT; Bird AC Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2747-52. PubMed ID: 15277500 [TBL] [Abstract][Full Text] [Related]
14. Lazy eyes zebrafish mutation affects Müller glial cells, compromising photoreceptor function and causing partial blindness. Kainz PM; Adolph AR; Wong KY; Dowling JE J Comp Neurol; 2003 Aug; 463(3):265-80. PubMed ID: 12820161 [TBL] [Abstract][Full Text] [Related]
15. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. McEwen DP; Koenekoop RK; Khanna H; Jenkins PM; Lopez I; Swaroop A; Martens JR Proc Natl Acad Sci U S A; 2007 Oct; 104(40):15917-22. PubMed ID: 17898177 [TBL] [Abstract][Full Text] [Related]
16. In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery. Garanto A; Chung DC; Duijkers L; Corral-Serrano JC; Messchaert M; Xiao R; Bennett J; Vandenberghe LH; Collin RW Hum Mol Genet; 2016 Jun; 25(12):2552-2563. PubMed ID: 27106101 [TBL] [Abstract][Full Text] [Related]
18. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Pawlyk BS; Smith AJ; Buch PK; Adamian M; Hong DH; Sandberg MA; Ali RR; Li T Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3039-45. PubMed ID: 16123399 [TBL] [Abstract][Full Text] [Related]