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Volumn 19, Issue 6, 2010, Pages 1076-1087

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

Author keywords

[No Author keywords available]

Indexed keywords

ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1; EYE PROTEIN; PHOSPHODIESTERASE; UNCLASSIFIED DRUG;

EID: 77950647146     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp571     Document Type: Article
Times cited : (58)

References (38)
  • 6
    • 4644256599 scopus 로고    scopus 로고
    • Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase
    • Ramamurthy, V., Niemi, G.A., Reh, T.A. and Hurley, J.B. (2004) Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Proc. Natl Acad. Sci. USA, 101, 13897-13902.
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 13897-13902
    • Ramamurthy, V.1    Niemi, G.A.2    Reh, T.A.3    Hurley, J.B.4
  • 8
    • 0036537524 scopus 로고    scopus 로고
    • The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
    • van der Spuy, J., Chapple, J.P., Clark, B.J., Luthert, P.J., Sethi, C.S. and Cheetham, M.E. (2002) The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Hum. Mol. Genet., 11, 823-831.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 823-831
    • van der Spuy, J.1    Chapple, J.P.2    Clark, B.J.3    Luthert, P.J.4    Sethi, C.S.5    Cheetham, M.E.6
  • 9
    • 0344420017 scopus 로고    scopus 로고
    • The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development
    • van der Spuy, J., Kim, J.H., Yu, Y.S., Szel, A., Luthert, P.J., Clark, B.J. and Cheetham, M.E. (2003) The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development. Invest. Ophthalmol. Vis. Sci., 44, 5396-5403.
    • (2003) Invest. Ophthalmol. Vis. Sci. , vol.44 , pp. 5396-5403
    • van der Spuy, J.1    Kim, J.H.2    Yu, Y.S.3    Szel, A.4    Luthert, P.J.5    Clark, B.J.6    Cheetham, M.E.7
  • 10
  • 12
    • 0017866791 scopus 로고
    • Differential effect of the rd mutation on rods and cones in the mouse retina
    • Carter-Dawson, L.D., LaVail, M.M. and Sidman, R.L. (1978) Differential effect of the rd mutation on rods and cones in the mouse retina. Invest. Ophthalmol. Vis. Sci., 17, 489-498.
    • (1978) Invest. Ophthalmol. Vis. Sci. , vol.17 , pp. 489-498
    • Carter-Dawson, L.D.1    LaVail, M.M.2    Sidman, R.L.3
  • 14
    • 58149141478 scopus 로고    scopus 로고
    • Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa
    • Punzo, C., Kornacker, K. and Cepko, C.L. (2009) Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa. Nat. Neurosci., 12, 44-52.
    • (2009) Nat. Neurosci. , vol.12 , pp. 44-52
    • Punzo, C.1    Kornacker, K.2    Cepko, C.L.3
  • 15
    • 0036351963 scopus 로고    scopus 로고
    • Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect
    • Ripps, H. (2002) Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect. Exp. Eye Res., 74, 327-336.
    • (2002) Exp. Eye Res. , vol.74 , pp. 327-336
    • Ripps, H.1
  • 16
    • 0036662776 scopus 로고    scopus 로고
    • Morphological and functional abnormalities in the inner retina of the rd/rd mouse
    • Strettoi, E., Porciatti, V., Falsini, B., Pignatelli, V. and Rossi, C. (2002) Morphological and functional abnormalities in the inner retina of the rd/rd mouse. J. Neurosci., 22, 5492-5504.
    • (2002) J. Neurosci. , vol.22 , pp. 5492-5504
    • Strettoi, E.1    Porciatti, V.2    Falsini, B.3    Pignatelli, V.4    Rossi, C.5
  • 17
    • 0242331665 scopus 로고    scopus 로고
    • 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, T.A. and Hurley, J.B. (2003) AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Proc. Natl Acad. Sci. USA, 100, 12630-12635.
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 12630-12635
    • Ramamurthy, V.1    Roberts, M.2    van den Akker, F.3    Niemi, G.4    Reh, T.A.5    Hurley, J.B.6
  • 18
    • 71449097363 scopus 로고    scopus 로고
    • 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, J.B. and Ramamurthy, V. (2009) AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly. J. Biol. Chem., 284, 30853-30861.
    • (2009) J. Biol. Chem. , vol.284 , pp. 30853-30861
    • Kolandaivelu, S.1    Huang, J.2    Hurley, J.B.3    Ramamurthy, V.4
  • 20
    • 0034968549 scopus 로고    scopus 로고
    • Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans
    • Sohocki, M.M., Sullivan, L.S., Tirpak, D.L. and Daiger, S.P. (2001) Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans. Mamm Genome, 12, 566-568.
    • (2001) Mamm Genome , vol.12 , pp. 566-568
    • Sohocki, M.M.1    Sullivan, L.S.2    Tirpak, D.L.3    Daiger, S.P.4
  • 22
    • 0032243415 scopus 로고    scopus 로고
    • Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision
    • Marmor, M.F. and Zrenner, E. (1998) Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision. Doc. Ophthalmol., 97, 143-156.
    • (1998) Doc. Ophthalmol. , vol.97 , pp. 143-156
    • Marmor, M.F.1    Zrenner, E.2
  • 27
    • 37249048320 scopus 로고    scopus 로고
    • A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish
    • Stearns, G., Evangelista, M., Fadool, J.M. and Brockerhoff, S.E. (2007) A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish. J. Neurosci., 27, 13866-13874.
    • (2007) J. Neurosci. , vol.27 , pp. 13866-13874
    • Stearns, G.1    Evangelista, M.2    Fadool, J.M.3    Brockerhoff, S.E.4
  • 28
    • 0029740113 scopus 로고    scopus 로고
    • Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase
    • Tsang, S.H., Gouras, P., Yamashita, C.K., Kjeldbye, H., Fisher, J., Farber, D.B. and Goff, S.P. (1996) Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase. Science, 272, 1026-1029.
    • (1996) Science , vol.272 , pp. 1026-1029
    • Tsang, S.H.1    Gouras, P.2    Yamashita, C.K.3    Kjeldbye, H.4    Fisher, J.5    Farber, D.B.6    Goff, S.P.7
  • 29
    • 0028890926 scopus 로고
    • From mice to men: the cyclic GMP phosphodiesterase gene in vision and disease. The Proctor Lecture
    • Farber, D.B. (1995) From mice to men: the cyclic GMP phosphodiesterase gene in vision and disease. The Proctor Lecture. Invest. Ophthalmol. Vis. Sci., 36, 263-275.
    • (1995) Invest. Ophthalmol. Vis. Sci. , vol.36 , pp. 263-275
    • Farber, D.B.1
  • 30
    • 0036716376 scopus 로고    scopus 로고
    • Calcium regulation in photoreceptors
    • Krizaj, D. and Copenhagen, D.R. (2002) Calcium regulation in photoreceptors. Front Biosci., 7, d2023-d2044.
    • (2002) Front Biosci. , vol.7
    • Krizaj, D.1    Copenhagen, D.R.2
  • 31
    • 34248387703 scopus 로고    scopus 로고
    • Synaptic Ca2+ in darkness is lower in rods than cones, causing slower tonic release of vesicles
    • Sheng, Z., Choi, S.Y., Dharia, A., Li, J., Sterling, P. and Kramer, R.H. (2007) Synaptic Ca2+ in darkness is lower in rods than cones, causing slower tonic release of vesicles. J. Neurosci., 27, 5033-5042.
    • (2007) J. Neurosci. , vol.27 , pp. 5033-5042
    • Sheng, Z.1    Choi, S.Y.2    Dharia, A.3    Li, J.4    Sterling, P.5    Kramer, R.H.6
  • 34
    • 66149101630 scopus 로고    scopus 로고
    • 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. et al. (2009) 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. Hum. Mol. Genet., 18, 2099-2114.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 2099-2114
    • Tan, M.H.1    Smith, A.J.2    Pawlyk, B.3    Xu, X.4    Liu, X.5    Bainbridge, J.B.6    Basche, M.7    McIntosh, J.8    Tran, H.V.9    Nathwani, A.10
  • 35
    • 0035065567 scopus 로고    scopus 로고
    • A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice
    • Gimenez, E. and Montoliu, L. (2001) A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice. Lab Anim., 35, 153-156.
    • (2001) Lab Anim. , vol.35 , pp. 153-156
    • Gimenez, E.1    Montoliu, L.2
  • 37
    • 61549136093 scopus 로고    scopus 로고
    • Remodeling of cone photoreceptor cells after rod degeneration in rd mice
    • Lin, B., Masland, R.H. and Strettoi, E. (2009) Remodeling of cone photoreceptor cells after rod degeneration in rd mice. Exp. Eye Res., 88, 589-599.
    • (2009) Exp. Eye Res. , vol.88 , pp. 589-599
    • Lin, B.1    Masland, R.H.2    Strettoi, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.