-
2
-
-
1542509345
-
Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein
-
Ambasudhan R., Wang X., Jablonski M.M., Thompson D.A., Lagali P.S., Wong P.W., Sieving P.A., and Ayyagari R. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics 83 (2004) 615-625
-
(2004)
Genomics
, vol.83
, pp. 615-625
-
-
Ambasudhan, R.1
Wang, X.2
Jablonski, M.M.3
Thompson, D.A.4
Lagali, P.S.5
Wong, P.W.6
Sieving, P.A.7
Ayyagari, R.8
-
3
-
-
0036510535
-
Biosynthetic studies of A2E, a major fluorophore of retinal pigment epithelial lipofuscin
-
Ben-Shabat S., Parish C.A., Vollmer H.R., Itagaki Y., Fishkin N., Nakanishi K., and Sparrow J.R. Biosynthetic studies of A2E, a major fluorophore of retinal pigment epithelial lipofuscin. J. Biol. Chem. 277 (2002) 7183-7190
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 7183-7190
-
-
Ben-Shabat, S.1
Parish, C.A.2
Vollmer, H.R.3
Itagaki, Y.4
Fishkin, N.5
Nakanishi, K.6
Sparrow, J.R.7
-
4
-
-
0035947372
-
Impairment of the ubiquitin-proteasome system by protein aggregation
-
Bence N.F., Sampat R.M., and Kopito R.R. Impairment of the ubiquitin-proteasome system by protein aggregation. Science 292 (2001) 1552-1555
-
(2001)
Science
, vol.292
, pp. 1552-1555
-
-
Bence, N.F.1
Sampat, R.M.2
Kopito, R.R.3
-
5
-
-
0021166457
-
Mechanisms of maculopathy
-
Eagle Jr. R.C. Mechanisms of maculopathy. Ophthalmology 91 (1984) 613-625
-
(1984)
Ophthalmology
, vol.91
, pp. 613-625
-
-
Eagle Jr., R.C.1
-
6
-
-
18844379122
-
Isolation and characterization of a retinal pigment epithelial cell fluorophore: an all-trans-retinal dimer conjugate
-
Fishkin N.E., Sparrow J.R., Allikmets R., and Nakanishi K. Isolation and characterization of a retinal pigment epithelial cell fluorophore: an all-trans-retinal dimer conjugate. Proc. Natl. Acad. Sci. U.S.A. 102 (2005) 7091-7096
-
(2005)
Proc. Natl. Acad. Sci. U.S.A.
, vol.102
, pp. 7091-7096
-
-
Fishkin, N.E.1
Sparrow, J.R.2
Allikmets, R.3
Nakanishi, K.4
-
7
-
-
0033987580
-
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci
-
Griesinger I.B., Sieving P.A., and Ayyagari R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest. Ophthalmol. Vis. Sci. 41 (2000) 248-255
-
(2000)
Invest. Ophthalmol. Vis. Sci.
, vol.41
, pp. 248-255
-
-
Griesinger, I.B.1
Sieving, P.A.2
Ayyagari, R.3
-
8
-
-
0037072934
-
A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
-
Illing M.E., Rajan R.S., Bence N.F., and Kopito R.R. A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J. Biol. Chem. 277 (2002) 34150-34160
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 34150-34160
-
-
Illing, M.E.1
Rajan, R.S.2
Bence, N.F.3
Kopito, R.R.4
-
9
-
-
34848895942
-
Retinal dysfunction in carriers of bardet-biedl syndrome
-
Kim L.S., Fishman G.A., Seiple W.H., Szlyk J.P., and Stone E.M. Retinal dysfunction in carriers of bardet-biedl syndrome. Ophthalmic Genet. 28 (2007) 163-168
-
(2007)
Ophthalmic Genet.
, vol.28
, pp. 163-168
-
-
Kim, L.S.1
Fishman, G.A.2
Seiple, W.H.3
Szlyk, J.P.4
Stone, E.M.5
-
10
-
-
37649001974
-
The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model
-
Kim S.R., Jang Y.P., Jockusch S., Fishkin N.E., Turro N.J., and Sparrow J.R. The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 19273-19278
-
(2007)
Proc. Natl. Acad. Sci. U.S.A.
, vol.104
, pp. 19273-19278
-
-
Kim, S.R.1
Jang, Y.P.2
Jockusch, S.3
Fishkin, N.E.4
Turro, N.J.5
Sparrow, J.R.6
-
11
-
-
3142714511
-
Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations
-
Klenotic P.A., Munier F.L., Marmorstein L.Y., and Anand-Apte B. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations. J. Biol. Chem. 279 (2004) 30469-30473
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 30469-30473
-
-
Klenotic, P.A.1
Munier, F.L.2
Marmorstein, L.Y.3
Anand-Apte, B.4
-
12
-
-
0032402129
-
Immunocytochemical localization of the postsynaptic density protein PSD-95 in the mammalian retina
-
Koulen P., Fletcher E.L., Craven S.E., Bredt D.S., and Wassle H. Immunocytochemical localization of the postsynaptic density protein PSD-95 in the mammalian retina. J. Neurosci. 18 (1998) 10136-10149
-
(1998)
J. Neurosci.
, vol.18
, pp. 10136-10149
-
-
Koulen, P.1
Fletcher, E.L.2
Craven, S.E.3
Bredt, D.S.4
Wassle, H.5
-
13
-
-
0038577094
-
Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina
-
Lagali P.S., Liu J., Ambasudhan R., Kakuk L.E., Bernstein S.L., Seigel G.M., Wong P.W., and Ayyagari R. Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina. Invest. Ophthalmol. Vis. Sci. 44 (2003) 2841-2850
-
(2003)
Invest. Ophthalmol. Vis. Sci.
, vol.44
, pp. 2841-2850
-
-
Lagali, P.S.1
Liu, J.2
Ambasudhan, R.3
Kakuk, L.E.4
Bernstein, S.L.5
Seigel, G.M.6
Wong, P.W.7
Ayyagari, R.8
-
14
-
-
0034703010
-
The biosynthesis of A2E, a fluorophore of aging retina, involves the formation of the precursor, A2-PE, in the photoreceptor outer segment membrane
-
Liu J., Itagaki Y., Ben-Shabat S., Nakanishi K., and Sparrow J.R. The biosynthesis of A2E, a fluorophore of aging retina, involves the formation of the precursor, A2-PE, in the photoreceptor outer segment membrane. J. Biol. Chem. 275 (2000) 29354-29360
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 29354-29360
-
-
Liu, J.1
Itagaki, Y.2
Ben-Shabat, S.3
Nakanishi, K.4
Sparrow, J.R.5
-
15
-
-
34248137448
-
CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion
-
Mandal M.N., Vasireddy V., Reddy G.B., Wang X., Moroi S.E., Pattnaik B.R., Hughes B.A., Heckenlively J.R., Hitchcock P.F., Jablonski M.M., and Ayyagari R. CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest. Ophthalmol. Vis. Sci. 47 (2006) 5505-5513
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 5505-5513
-
-
Mandal, M.N.1
Vasireddy, V.2
Reddy, G.B.3
Wang, X.4
Moroi, S.E.5
Pattnaik, B.R.6
Hughes, B.A.7
Heckenlively, J.R.8
Hitchcock, P.F.9
Jablonski, M.M.10
Ayyagari, R.11
-
16
-
-
0036792087
-
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
-
Marmorstein L.Y., Munier F.L., Arsenijevic Y., Schorderet D.F., McLaughlin P.J., Chung D., Traboulsi E., and Marmorstein A.D. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc. Natl. Acad. Sci. U.S.A. 99 (2002) 13067-13072
-
(2002)
Proc. Natl. Acad. Sci. U.S.A.
, vol.99
, pp. 13067-13072
-
-
Marmorstein, L.Y.1
Munier, F.L.2
Arsenijevic, Y.3
Schorderet, D.F.4
McLaughlin, P.J.5
Chung, D.6
Traboulsi, E.7
Marmorstein, A.D.8
-
17
-
-
0034691089
-
Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration
-
Mata N.L., Weng J., and Travis G.H. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc. Natl. Acad. Sci. U.S.A. 97 (2000) 7154-7159
-
(2000)
Proc. Natl. Acad. Sci. U.S.A.
, vol.97
, pp. 7154-7159
-
-
Mata, N.L.1
Weng, J.2
Travis, G.H.3
-
18
-
-
9444259302
-
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy
-
Maugeri A., Meire F., Hoyng C.B., Vink C., Van Regemorter N., Karan G., Yang Z., Cremers F.P., and Zhang K. A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. Invest. Ophthalmol. Vis. Sci. 45 (2004) 4263-4267
-
(2004)
Invest. Ophthalmol. Vis. Sci.
, vol.45
, pp. 4263-4267
-
-
Maugeri, A.1
Meire, F.2
Hoyng, C.B.3
Vink, C.4
Van Regemorter, N.5
Karan, G.6
Yang, Z.7
Cremers, F.P.8
Zhang, K.9
-
19
-
-
36049004344
-
A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines
-
McMahon A., Jackson S.N., Woods A.S., and Kedzierski W. A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines. FEBS Lett. 581 (2007) 5459-5463
-
(2007)
FEBS Lett.
, vol.581
, pp. 5459-5463
-
-
McMahon, A.1
Jackson, S.N.2
Woods, A.S.3
Kedzierski, W.4
-
20
-
-
0032438193
-
Isolation and one-step preparation of A2E and iso-A2E, fluorophores from human retinal pigment epithelium
-
Parish C.A., Hashimoto M., Nakanishi K., Dillon J., and Sparrow J. Isolation and one-step preparation of A2E and iso-A2E, fluorophores from human retinal pigment epithelium. Proc. Natl. Acad. Sci. U.S.A. 95 (1998) 14609-14613
-
(1998)
Proc. Natl. Acad. Sci. U.S.A.
, vol.95
, pp. 14609-14613
-
-
Parish, C.A.1
Hashimoto, M.2
Nakanishi, K.3
Dillon, J.4
Sparrow, J.5
-
22
-
-
0037099080
-
The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation
-
Saliba R.S., Munro P.M., Luthert P.J., and Cheetham M.E. The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J. Cell Sci. 115 (2002) 2907-2918
-
(2002)
J. Cell Sci.
, vol.115
, pp. 2907-2918
-
-
Saliba, R.S.1
Munro, P.M.2
Luthert, P.J.3
Cheetham, M.E.4
-
23
-
-
0037264120
-
Unfolding the role of protein misfolding in neurodegenerative diseases
-
Soto C. Unfolding the role of protein misfolding in neurodegenerative diseases. Nat. Rev. Neurosci. 4 (2003) 49-60
-
(2003)
Nat. Rev. Neurosci.
, vol.4
, pp. 49-60
-
-
Soto, C.1
-
24
-
-
39049126210
-
Protein misfolding and neurodegeneration
-
Soto C., and Estrada L.D. Protein misfolding and neurodegeneration. Arch. Neurol. 65 (2008) 184-189
-
(2008)
Arch. Neurol.
, vol.65
, pp. 184-189
-
-
Soto, C.1
Estrada, L.D.2
-
25
-
-
3242719404
-
Missense variations in the fibulin 5 gene and age-related macular degeneration
-
Stone E.M., Braun T.A., Russell S.R., Kuehn M.H., Lotery A.J., Moore P.A., Eastman C.G., Casavant T.L., and Sheffield V.C. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl. J. Med. 351 (2004) 346-353
-
(2004)
N Engl. J. Med.
, vol.351
, pp. 346-353
-
-
Stone, E.M.1
Braun, T.A.2
Russell, S.R.3
Kuehn, M.H.4
Lotery, A.J.5
Moore, P.A.6
Eastman, C.G.7
Casavant, T.L.8
Sheffield, V.C.9
-
27
-
-
26244467335
-
Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes
-
Vasireddy V., Vijayasarathy C., Huang J., Wang X.F., Jablonski M.M., Petty H.R., Sieving P.A., and Ayyagari R. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Mol. Vis. 11 (2005) 665-676
-
(2005)
Mol. Vis.
, vol.11
, pp. 665-676
-
-
Vasireddy, V.1
Vijayasarathy, C.2
Huang, J.3
Wang, X.F.4
Jablonski, M.M.5
Petty, H.R.6
Sieving, P.A.7
Ayyagari, R.8
-
28
-
-
33750593371
-
Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration
-
Vasireddy V., Jablonski M.M., Mandal M.N., Raz-Prag D., Wang X.F., Nizol L., Iannaccone A., Musch D.C., Bush R.A., Salem Jr. N., Sieving P.A., and Ayyagari R. Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest. Ophthalmol. Vis. Sci. 47 (2006) 4558-4568
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 4558-4568
-
-
Vasireddy, V.1
Jablonski, M.M.2
Mandal, M.N.3
Raz-Prag, D.4
Wang, X.F.5
Nizol, L.6
Iannaccone, A.7
Musch, D.C.8
Bush, R.A.9
Salem Jr., N.10
Sieving, P.A.11
Ayyagari, R.12
-
29
-
-
34047174936
-
Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death
-
Vasireddy V., Uchida Y., Salem Jr. N., Kim S.Y., Mandal M.N., Reddy G.B., Bodepudi R., Alderson N.L., Brown J.C., Hama H., Dlugosz A., Elias P.M., Holleran W.M., and Ayyagari R. Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death. Hum. Mol. Genet. 16 (2007) 471-482
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 471-482
-
-
Vasireddy, V.1
Uchida, Y.2
Salem Jr., N.3
Kim, S.Y.4
Mandal, M.N.5
Reddy, G.B.6
Bodepudi, R.7
Alderson, N.L.8
Brown, J.C.9
Hama, H.10
Dlugosz, A.11
Elias, P.M.12
Holleran, W.M.13
Ayyagari, R.14
-
30
-
-
0035168415
-
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
-
Zhang K., Kniazeva M., Han M., Li W., Yu Z., Yang Z., Li Y., Metzker M.L., Allikmets R., Zack D.J., Kakuk L.E., Lagali P.S., Wong P.W., MacDonald I.M., Sieving P.A., Figueroa D.J., Austin C.P., Gould R.J., Ayyagari R., and Petrukhin K. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat. Genet. 27 (2001) 89-93
-
(2001)
Nat. Genet.
, vol.27
, pp. 89-93
-
-
Zhang, K.1
Kniazeva, M.2
Han, M.3
Li, W.4
Yu, Z.5
Yang, Z.6
Li, Y.7
Metzker, M.L.8
Allikmets, R.9
Zack, D.J.10
Kakuk, L.E.11
Lagali, P.S.12
Wong, P.W.13
MacDonald, I.M.14
Sieving, P.A.15
Figueroa, D.J.16
Austin, C.P.17
Gould, R.J.18
Ayyagari, R.19
Petrukhin, K.20
more..
|