-
1
-
-
42649130050
-
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family
-
Abbasi AH, Garzozi HJ, Ben-Yosef T (2008) A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family. Mol Vis 14:675-682 (Pubitemid 351597365)
-
(2008)
Molecular Vision
, vol.14
, pp. 675-682
-
-
Abbasi, A.H.1
Garzozi, H.J.2
Ben-Yosef, T.3
-
2
-
-
17144456542
-
TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa
-
DOI 10.1038/ng0298-177
-
Banerjee P, Kleyn PW, Knowles JA et al (1998) TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet 18:177-179 (Pubitemid 28082469)
-
(1998)
Nature Genetics
, vol.18
, Issue.2
, pp. 177-179
-
-
Banerjee, P.1
Kleyn, P.W.2
Knowles, J.A.3
Lewis, C.A.4
Ross, B.M.5
Parano, E.6
Kovats, S.G.7
Lee, J.J.8
Penchaszadeh, G.K.9
Ott, J.10
Jacobson, S.G.11
Conrad Gilliam, T.12
-
3
-
-
34247843072
-
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors
-
DOI 10.1074/jbc.M610369200
-
Baehr W, Karan S, Maeda T et al (2007) The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors. J Biol Chem 282:8837-8847 (Pubitemid 47093526)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.12
, pp. 8837-8847
-
-
Baehr, W.1
Karan, S.2
Maeda, T.3
Luo, D.-G.4
Li, S.5
Bronson, J.D.6
Watt, C.B.7
Yau, K.-W.8
Frederick, J.M.9
Palczewski, K.10
-
4
-
-
0027537949
-
Retinitis pigmentosa. The friedenwald lecture
-
Berson EL (1993) Retinitis pigmentosa. The Friedenwald Lecture. Inves Ophthalmol Vis Sci 34:1659-1676
-
(1993)
Inves Ophthalmol Vis Sci
, vol.34
, pp. 1659-1676
-
-
Berson, E.L.1
-
7
-
-
33750359913
-
Light-driven translocation of signaling proteins in vertebrate photoreceptors
-
DOI 10.1016/j.tcb.2006.09.001, PII S0962892406002376
-
Calvert PD, Strissel KJ, Schiesser WE et al (2006) Light-driven translocation of signaling proteins in vertebrate photoreceptors. Trends Cell Biol 16:560-568 (Pubitemid 44636215)
-
(2006)
Trends in Cell Biology
, vol.16
, Issue.11
, pp. 560-568
-
-
Calvert, P.D.1
Strissel, K.J.2
Schiesser, W.E.3
Pugh Jr., E.N.4
Arshavsky, V.Y.5
-
8
-
-
33750607737
-
A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity
-
DOI 10.1016/j.visres.2006.07.028, PII S0042698906003415
-
Deretic D (2006) A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity. Vision Res 46:4427-4433 (Pubitemid 44693754)
-
(2006)
Vision Research
, vol.46
, Issue.27
, pp. 4427-4433
-
-
Deretic, D.1
-
10
-
-
84855969971
-
Tulp1-dependent outer segment protein transport pathways in photoreceptor cells
-
Epub ahead of print
-
Grossman GH, Watson RF, Pauer GJT et al (2011) Tulp1-dependent Outer Segment Protein Transport Pathways in Photoreceptor Cells. Exp Eye Res Aug. 16 (Epub ahead of print)
-
(2011)
Exp Eye Res Aug
, pp. 16
-
-
Grossman, G.H.1
Watson, R.F.2
Gjt, P.3
-
11
-
-
0040386021
-
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa
-
DOI 10.1016/S0140-6736(05)79384-3
-
Gu S, Lennon A, Li Y et al (1998) Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. Lancet 351:1103-1104 (Pubitemid 28162209)
-
(1998)
Lancet
, vol.351
, Issue.9109
, pp. 1103-1104
-
-
Gu, S.1
Lennon, A.2
Li, Y.3
Lorenz, B.4
Fossarello, M.5
North, M.6
Gal, A.7
Wright, A.8
-
12
-
-
0031942582
-
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa
-
DOI 10.1038/ng0298-174
-
Hagstrom SA, North MA, Nishina PL et al (1998) Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet 18:174-176 (Pubitemid 28082468)
-
(1998)
Nature Genetics
, vol.18
, Issue.2
, pp. 174-176
-
-
Hagstrom, S.A.1
North, M.A.2
Nishina, P.M.3
Berson, E.L.4
Dryja, T.P.5
-
14
-
-
0034907947
-
A role for the tubby-like protein 1 in rhodopsin transport
-
Hagstrom SA, Adamian M, Scimeca M et al (2001) A role for the Tubby-like protein 1 in rhodopsin transport. Invest Ophthalmol Vis Sci 42:1955-1962 (Pubitemid 32726024)
-
(2001)
Investigative Ophthalmology and Visual Science
, vol.42
, Issue.9
, pp. 1955-1962
-
-
Hagstrom, S.A.1
Adamian, M.2
Scimeca, M.3
Pawlyk, B.S.4
Yue, G.5
Li, T.6
-
15
-
-
0034734835
-
GFP-tagged expression and immunohistochemical studies to determine the subcellular localization of the tubby gene family members
-
He W, Ikeda S, Bronson RT et al (2000) GFP-tagged expression and immunohistochemical studies to determine the subcellular localization of the tubby gene family members. Brain Res Mol Brain Res 81:109-117
-
(2000)
Brain Res Mol Brain Res
, vol.81
, pp. 109-117
-
-
He, W.1
Ikeda, S.2
Bronson, R.T.3
-
16
-
-
0032884085
-
Cell-specific expression of tubby gene family members (tub, Tulp1, 2, and 3) in the retina
-
Ikeda S, He W, Ikeda A et al (1999) Cell-specifi c expression of tubby gene family members (tub,Tulp1, 2, and 3) in the retina. Invest Ophthalmol Vis Sci 40:2706-2712 (Pubitemid 29455503)
-
(1999)
Investigative Ophthalmology and Visual Science
, vol.40
, Issue.11
, pp. 2706-2712
-
-
Ikeda, S.1
He, W.2
Ikeda, A.3
Naggert, J.K.4
North, M.A.5
Nishina, P.M.6
-
17
-
-
0033978890
-
Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene
-
Ikeda S, Shiva N, Ikeda A et al (2000) Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. Hum Mol Genet 9:155-163 (Pubitemid 30052739)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.2
, pp. 155-163
-
-
Ikeda, S.1
Shiva, N.2
Ikeda, A.3
Smith, R.S.4
Nusinowitz, S.5
Yan, G.6
Lin, T.R.7
Chu, S.8
Heckenlively, J.R.9
North, M.A.10
Naggert, J.K.11
Nishina, P.M.12
Duyao, M.P.13
-
18
-
-
38749148422
-
A model for transport of membrane-associated phototransduction polypeptides in rod and cone photoreceptor inner segments
-
DOI 10.1016/j.visres.2007.08.020, PII S0042698907003744
-
Karan S, Zhang H, Li S et al (2008) A model for transport of membrane-associated phototransduction polypeptides in rod and cone photoreceptor inner segments. Vision Res 48:442-452 (Pubitemid 351179523)
-
(2008)
Vision Research
, vol.48
, Issue.3
, pp. 442-452
-
-
Karan, S.1
Zhang, H.2
Li, S.3
Frederick, J.M.4
Baehr, W.5
-
19
-
-
15844372440
-
Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family
-
DOI 10.1016/S0092-8674(00)81104-6
-
Kleyn PW, Fan W, Kovats SG et al (1996) Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell 85:281-290 (Pubitemid 26118168)
-
(1996)
Cell
, vol.85
, Issue.2
, pp. 281-290
-
-
Kleyn, P.W.1
Fan, W.2
Kovats, S.G.3
Lee, J.J.4
Pulido, J.C.5
Wu, Y.6
Berkemeier, L.R.7
Misumi, D.J.8
Holmgren, L.9
Charlat, O.10
Woolf, E.A.11
Tayber, O.12
Brody, T.13
Shu, P.14
Hawkins, F.15
Kennedy, B.16
Baldini, L.17
Ebeling, C.18
Alperin, G.D.19
Deeds, J.20
Lakey, N.D.21
Culpepper, J.22
Chen, H.23
Glucksmann-Kuis, M.A.24
Carlson, G.A.25
Duyk, G.M.26
Moore, K.J.27
more..
-
20
-
-
38449104764
-
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration
-
DOI 10.1167/iovs.06-1013
-
Mataftsi A, Schorderet DF, Chachoua L et al (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. Invest Ophthalmol Vis Sci 48:5160-5167 (Pubitemid 351260927)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.11
, pp. 5160-5167
-
-
Mataftsi, A.1
Schorderet, D.F.2
Chachoua, L.3
Boussalah, M.4
Nouri, M.T.5
Barthelmes, D.6
Borruat, F.-X.7
Munier, F.L.8
-
21
-
-
0032402244
-
Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans
-
DOI 10.1006/geno.1998.5567
-
Nishina PM, North MA, Ikeda A et al (1998) Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans. Genomics 54:215-220 (Pubitemid 28553630)
-
(1998)
Genomics
, vol.54
, Issue.2
, pp. 215-220
-
-
Nishina, P.M.1
North, M.A.2
Ikeda, A.3
Yan, Y.4
Naggert, J.K.5
-
22
-
-
0031004576
-
Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases
-
DOI 10.1073/pnas.94.7.3128
-
North MA, Naggert JK, Yan Y et al (1997) Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc Natl Acad Sci USA 94:3128-3133 (Pubitemid 27157275)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.7
, pp. 3128-3133
-
-
North, M.A.1
Naggert, J.K.2
Yan, Y.3
Noben-Trauth, K.4
Nishina, P.M.5
-
23
-
-
12544255192
-
Evaluation of the 17-kDa prenyl-binding protein as a regulatory protein for phototransduction in retinal photoreceptors
-
Norton AW, Hosier S, Terew JM et al (2005) Evaluation of the 17-kDa prenyl-binding protein as a regulatory protein for phototransduction in retinal photoreceptors. J Biol Chem 280:1248-1256
-
(2005)
J Biol Chem
, vol.280
, pp. 1248-1256
-
-
Norton, A.W.1
Hosier, S.2
Terew, J.M.3
-
24
-
-
0034015974
-
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa
-
Paloma E, Hjelmqvist L, Bayes M et al (2000) Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 41:656-659 (Pubitemid 30158872)
-
(2000)
Investigative Ophthalmology and Visual Science
, vol.41
, Issue.3
, pp. 656-659
-
-
Paloma, E.1
Hjelmqvist, L.2
Bayes, M.3
Garcia-Sandoval, B.4
Ayuso, C.5
Balcells, S.6
Gonzalez-Duarte, R.7
-
25
-
-
7344266882
-
Prominent neuronal-specific tub gene expression in cellular targets of tubby mice mutation
-
DOI 10.1093/hmg/7.9.1437
-
Sahly I, Gogat K, Kobetz A et al (1998) Prominent neuronal-specifi c tub gene expression in cellular targets of tubby mice mutation. Hum Mol Genet 7:1437-1447 (Pubitemid 28429925)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.9
, pp. 1437-1447
-
-
Sahly, I.1
Gogat, K.2
Kobetz, A.3
Marchant, D.4
Menasche, M.5
Castel, M.-N.6
Revah, F.7
Dufier, J.-L.8
Guerre-Millo, M.9
Abitbol, M.M.10
-
26
-
-
42949171611
-
Mechanism of light-induced translocation of arrestin and transducin in photoreceptors: Interaction-restricted diffusion
-
Slepak VZ, Hurley JB (2008). Mechanism of light-induced translocation of arrestin and transducin in photoreceptors: interaction-restricted diffusion. IUBMB Life 60:2-9
-
(2008)
IUBMB Life
, vol.60
, pp. 2-9
-
-
Slepak, V.Z.1
Hurley, J.B.2
-
27
-
-
33644789436
-
Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells
-
DOI 10.1167/iovs.05-0693
-
Xi Q, Pauer GJ, Marmorstein AD et al (2005) Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells. Invest Ophthalmol Vis Sci 46:4754-4761 (Pubitemid 44264581)
-
(2005)
Investigative Ophthalmology and Visual Science
, vol.46
, Issue.12
, pp. 4754-4761
-
-
Xi, Q.1
Pauer, G.J.T.2
Marmorstein, A.D.3
Crabb, J.W.4
Hagstrom, S.A.5
-
28
-
-
34347241366
-
Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1
-
DOI 10.1167/iovs.06-0059
-
Xi Q, Pauer GJ, Ball SL et al (2007) Interaction between the photoreceptor-specifi c tubby-like protein 1 and the neuronal-specifi c GTPase dynamin-1. Invest Ophthalmol Vis Sci 48:2837-2844 (Pubitemid 351261241)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.6
, pp. 2837-2844
-
-
Xi, Q.1
Pauer, G.J.T.2
Ball, S.L.3
Rayborn, M.4
Hollyfield, J.G.5
Peachey, N.S.6
Crabb, J.W.7
Hagstrom, S.A.8
-
29
-
-
0033565767
-
Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior
-
Yang RB, Robinson SW, Xiong WH et al (1999) Disruption of a retinal guanylyl cyclase gene leads to cone-specifi c dystrophy and paradoxical rod behavior. J Neurosci 19:5889-5897 (Pubitemid 29327924)
-
(1999)
Journal of Neuroscience
, vol.19
, Issue.14
, pp. 5889-5897
-
-
Yang, R.-B.1
Robinson, S.W.2
Xiong, W.-H.3
Yau, K.-W.4
Birch, D.G.5
Garbers, D.L.6
-
30
-
-
34547480479
-
Deletion of PrBP/δ impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments
-
DOI 10.1073/pnas.0701681104
-
Zhang H, Li S, Dhoan T et al (2007) Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments. Proc Natl Acad Sci USA 104:8857-8862 (Pubitemid 47175401)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.21
, pp. 8857-8862
-
-
Zhang, H.1
Li, S.2
Doan, T.3
Rieke, F.4
Detwiler, P.B.5
Frederick, J.M.6
Baehr, W.7
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