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Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.
Scalabrino ML, Boye SL, Fransen KM, Noel JM, Dyka FM, Min SH, Ruan Q, De Leeuw CN, Simpson EM, Gregg RG, McCall MA, Peachey NS, Boye SE. Scalabrino ML, et al. Among authors: mccall ma. Hum Mol Genet. 2015 Nov 1;24(21):6229-39. doi: 10.1093/hmg/ddv341. Epub 2015 Aug 26. Hum Mol Genet. 2015. PMID: 26310623 Free PMC article.
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. Peachey NS, et al. Among authors: mccall ma. Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006. Am J Hum Genet. 2012. PMID: 22325362 Free PMC article.
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. van Genderen MM, et al. Among authors: mccall ma. Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896109 Free PMC article.
Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.
Peachey NS, Pearring JN, Bojang P Jr, Hirschtritt ME, Sturgill-Short G, Ray TA, Furukawa T, Koike C, Goldberg AF, Shen Y, McCall MA, Nawy S, Nishina PM, Gregg RG. Peachey NS, et al. Among authors: mccall ma. J Neurophysiol. 2012 Nov;108(9):2442-51. doi: 10.1152/jn.00137.2012. Epub 2012 Aug 15. J Neurophysiol. 2012. PMID: 22896717 Free PMC article.
88 results