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Results: 1 to 20 of 108

Similar articles for PubMed (Select 15365173)

1.

AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.

Liu X, Bulgakov OV, Wen XH, Woodruff ML, Pawlyk B, Yang J, Fain GL, Sandberg MA, Makino CL, Li T.

Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13903-8. Epub 2004 Sep 13. Erratum in: Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):515.

2.

Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.

Ramamurthy V, Niemi GA, Reh TA, Hurley JB.

Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13897-902. Epub 2004 Sep 13.

3.

Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis.

Dyer MA, Donovan SL, Zhang J, Gray J, Ortiz A, Tenney R, Kong J, Allikmets R, Sohocki MM.

Brain Res Mol Brain Res. 2004 Dec 20;132(2):208-20.

PMID:
15582159
4.

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, Cheetham ME.

Hum Mol Genet. 2002 Apr 1;11(7):823-31.

5.

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

Tan MH, Smith AJ, Pawlyk B, Xu X, Liu X, Bainbridge JB, Basche M, McIntosh J, Tran HV, Nathwani A, Li T, Ali RR.

Hum Mol Genet. 2009 Jun 15;18(12):2099-114. doi: 10.1093/hmg/ddp133. Epub 2009 Mar 19. Erratum in: Hum Mol Genet. 2010 Feb 15;19(4):735.

6.

The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.

Kirschman LT, Kolandaivelu S, Frederick JM, Dang L, Goldberg AF, Baehr W, Ramamurthy V.

Hum Mol Genet. 2010 Mar 15;19(6):1076-87. doi: 10.1093/hmg/ddp571. Epub 2009 Dec 30.

7.

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):70-9. doi: 10.1167/iovs.10-6127.

PMID:
20702822
8.

The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.

Hidalgo-de-Quintana J, Evans RJ, Cheetham ME, van der Spuy J.

Invest Ophthalmol Vis Sci. 2008 Jul;49(7):2878-87. doi: 10.1167/iovs.07-1576. Epub 2008 Apr 11.

9.

The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.

van der Spuy J, Kim JH, Yu YS, Szel A, Luthert PJ, Clark BJ, Cheetham ME.

Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5396-403.

PMID:
14638743
10.

Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.

Sun X, Pawlyk B, Xu X, Liu X, Bulgakov OV, Adamian M, Sandberg MA, Khani SC, Tan MH, Smith AJ, Ali RR, Li T.

Gene Ther. 2010 Jan;17(1):117-31. doi: 10.1038/gt.2009.104. Epub 2009 Aug 27.

11.

Ribozyme knockdown of the gamma-subunit of rod cGMP phosphodiesterase alters the ERG and retinal morphology in wild-type mice.

Liu J, Timmers AM, Lewin AS, Hauswirth WW.

Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3836-44.

PMID:
16186371
12.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.

Mol Genet Metab. 2000 Jun;70(2):142-50.

PMID:
10873396
13.

Biochemical function of the LCA linked protein, aryl hydrocarbon receptor interacting protein like-1 (AIPL1). Role of AIPL1 in retina.

Schwartz ML, Hurley JB, Ramamurthy V.

Adv Exp Med Biol. 2006;572:89-94. Review. No abstract available.

PMID:
17249560
14.
15.

Rod photoreceptor cGMP-phosphodiesterase: analysis of alpha and beta subunits expressed in human kidney cells.

Piriev NI, Yamashita C, Samuel G, Farber DB.

Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9340-4.

16.

Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis.

Ku CA, Chiodo VA, Boye SL, Goldberg AF, Li T, Hauswirth WW, Ramamurthy V.

Hum Mol Genet. 2011 Dec 1;20(23):4569-81. doi: 10.1093/hmg/ddr391. Epub 2011 Aug 31.

17.

Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.

Kanaya K, Sohocki MM, Kamitani T.

Biochem Biophys Res Commun. 2004 May 7;317(3):768-73.

PMID:
15081406
18.

AIPL1 protein and its indispensable role in cone photoreceptor function and survival.

Kolandaivelu S, Ramamurthy V.

Adv Exp Med Biol. 2014;801:43-8. doi: 10.1007/978-1-4614-3209-8_6. Review.

PMID:
24664679
19.

Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies.

Gallon VA, Wilkie SE, Deery EC, Newbold RJ, Sohocki MM, Bhattacharya SS, Hunt DM, Warren MJ.

Biochim Biophys Acta. 2004 Oct 14;1690(2):141-9.

20.

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Blackshaw S, Fukuda-Kamitani T, Daiger SP, Craft CM, Kamitani T, Sohocki MM.

Hum Mol Genet. 2002 Oct 15;11(22):2723-33. Erratum in: Hum Mol Genet. 2003 Feb 15;12(4):451.

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