Citations for
1AIPL1, NUB1, UBD
The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.
Bett JS, Kanuga N, Richet E, Schmidtke G, Groettrup M, Cheetham ME, van der Spuy J.
PLoS One 7(2):e30866. doi: 10.1371/journal.pone.0030866. Epub 2012 Feb 7. 2012
2AIPL1, NEUROD1
NeuroD1 is required for survival of photoreceptors but not pinealocytes: results from targeted gene deletion studies.
Ochocinska MJ, Muņoz EM, Veleri S, Weller JL, Coon SL, Pozdeyev N, Iuvone PM, Goebbels S, Furukawa T, Klein DC.
J Neurochem 123(1):44-59. doi: 10.1111/j.1471-4159.2012.07870.x. Epub 2012 Aug 16. 2012
3AIPL1
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. 52(1):70-9. 2011
4AIPL1, LCA4
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 19(6):1076-87. Epub 2009 Dec 30. 2010
5AIPL1
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. 17(1):117-31. 2010
6AIPL1, LCA5, RPGRIP1
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
McKibbin M, Ali M, Mohamed MD, Booth AP, Bishop F, Pal B, Springell K, Raashid Y, Jafri H, Inglehearn CF.
Arch Ophthalmol 128(1):107-13.PMID: 20065226 2010
7AIPL1, PDE6A
AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.
Kolandaivelu S, Huang J, Hurley JB, Ramamurthy V.
J Biol Chem 284(45):30853-61. Epub 2009 Sep 16.PMID: 19758987 2009
8AIPL1
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, M. H., Smith, A. J., Pawlyk, B., Xu, X., Liu, X., Bainbridge, J. B., Basche, M., McIntosh, J., Tran, H. V., Nathwani, A., Li, T., Ali, R. R.
Hum. Molec. Genet. 18: 2099-2114 2009
9AIPL1, LCA4
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 49(7):2878-87. Epub 2008 Apr 11. 2008
10AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, LRAT, Lebercilin, MERTK, RD3, RDH12, RPE65, RPGRP1, TULP1
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP
Prog Retin Eye Res. Jul;27(4):391-419 2008
11AIPL1
Effects of low AIPL1 expression on phototransduction in rods.
Makino CL, Wen XH, Michaud N, Peshenko IV, Pawlyk B, Brush RS, Soloviev M, Liu X, Woodruff ML, Calvert PD, Savchenko AB, Anderson RE, Fain GL, Li T, Sandberg MA, Dizhoor AM.
Invest Ophthalmol Vis Sci. 47(5):2185-94. 2006
12AIPL1,LCA4
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA.
J Med Genet 42(11):e67. 2005
13AIPL1
The biosynthesis/transport of cone photoreceptor cGMP phosphodiesterases requires AIPLI, a putative chaperone protein that is defective in one form of Leber congenital amorosis.
Bulgakov OV, Liu X, Li T.
Invest Ophthalmol Vis Sci 46: Abstract 1728 2005
14AIPL1
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 101(38):13897-902. Epub 2004 Sep 13. 2004
15AIPL1
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 101(38):13903-8. Epub 2004 Sep 13. 2004
16NUB1, AIPL1, LCA4
Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.
Kanaya K, Sohocki MM, Kamitani T.
Biochem Biophys Res Commun 317(3):768-73. 2004
17LCA4, AIPL1
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 1690(2):141-9. 2004
18AIPL1, LCA4
The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.
van der Spuy J, Cheetham ME.
J Biol Chem 279(46):48038-47. Epub 2004 Aug 30. 2004
19AIPL1
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. 132(2):208-20. 2004
20AIPL1, DNAJA2
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.
Ramamurthy V, Roberts M, van den Akker F, Niemi G, Reh TA, Hurley JB.
Proc Natl Acad Sci U S A 100(22):12630-5. Epub 2003 Oct 10. No abstract available. 2003
21AIPL1, NUB1, LCA4, CORD3
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 44(12):5396-403. 2003
22AIPL1
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 11(7):823-31. 2002
23AIPL1, NUB1
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 11(22):2723-33. 2002
24ACADVL, AIPL1, ALOX12, ATP1B1, CACP, CD68, CLDN7, DLG4, EIF4A1, GABARAP, RABEP1, SHBG, SLC2A4
A physical and expression map of the D17S1810-D17S1353 region spanning the central areolar choroidal dystrophy locus.
Lichanska AM, McGibbon D, Silvestri G, Hughes AE.
Cytogenet Cell Genet 93(1-2):43-7. 2001
25AIPL1, LCA4
Mutations in a new photoreceptor-pineal gene on 17p cause leber congenital amaurosis.
Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP.
Nat Genet 24(1):79-83 2000
26AIPL1, LCA4
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 70(2):142-50. 2000
27AIPL1, HSP90AA1
A novel cytoplasmic protein that interacts with the Ah receptor, contains tetratricopeptide repeat motifs, and augments the transcriptional response to 2,3,7,8-tetrachlorodibenzo-p-dioxin.
Ma Q, Whitlock JP Jr.
J Biol Chem 272(14):8878-84 1997