-
1
-
-
17344363489
-
Positional cloning of the gene for X-linked retinitis pigmentosa 2
-
Schwahn, U., Lenzer, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A., Rosenberg, T. et al. (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat. Genet., 19, 327-332.
-
(1998)
Nat. Genet.
, vol.19
, pp. 327-332
-
-
Schwahn, U.1
Lenzer, S.2
Dong, J.3
Feil, S.4
Hinzmann, B.5
van Duijnhoven, G.6
Kirschner, R.7
Hemberger, M.8
Bergen, A.9
Rosenberg, T.10
-
2
-
-
0033361920
-
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study
-
Hardcastle, A.J., Thiselton, D., van Maldergem, L., Saha, B., Jay, M., Plant, C., Taylor, R., Bird, A. and Bhattacharya, S.S. (1999) Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am. Hum. J. Genet., 64, 1210-1215.
-
(1999)
Am. Hum. J. Genet.
, vol.64
, pp. 1210-1215
-
-
Hardcastle, A.J.1
Thiselton, D.2
van Maldergem, L.3
Saha, B.4
Jay, M.5
Plant, C.6
Taylor, R.7
Bird, A.8
Bhattacharya, S.S.9
-
3
-
-
0034903235
-
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
-
Miano, M., Testa, F., Filippini, F., Trujillo, M., Conte, I., Lanzara, C., Millan, J., De Bernardo, C., Grammatico, B., Mangino, M. et al. (2001) Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Hum. Mutat., 18, 109-119.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 109-119
-
-
Miano, M.1
Testa, F.2
Filippini, F.3
Trujillo, M.4
Conte, I.5
Lanzara, C.6
Millan, J.7
De Bernardo, C.8
Grammatico, B.9
Mangino, M.10
-
4
-
-
0034641595
-
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
-
Chapple, J.P., Hardcastle, A.J., Grayson, C., Spackman, L.A., Willison, K.R. and Cheetham, M.E. (2000) Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. Hum. Mol. Genet., 9, 1919-1926.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1919-1926
-
-
Chapple, J.P.1
Hardcastle, A.J.2
Grayson, C.3
Spackman, L.A.4
Willison, K.R.5
Cheetham, M.E.6
-
5
-
-
1842869139
-
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3
-
Grayson, C., Bartolini, F., Chapple, J.P., Willison, K.R., Bhamidipati, A., Lewis, S.A., Luthert, P.J., Hardcastle, A.J., Cowan, N.J. and Cheetham, M.E. (2002) Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum. Mol. Genet., 11, 3065-3074.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3065-3074
-
-
Grayson, C.1
Bartolini, F.2
Chapple, J.P.3
Willison, K.R.4
Bhamidipati, A.5
Lewis, S.A.6
Luthert, P.J.7
Hardcastle, A.J.8
Cowan, N.J.9
Cheetham, M.E.10
-
6
-
-
0035872885
-
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein
-
Schwahn, U., Paland, N., Techritz, S., Lenzner, S. and Berger, W. (2001) Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Hum. Mol. Genet., 10, 1177-1183.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1177-1183
-
-
Schwahn, U.1
Paland, N.2
Techritz, S.3
Lenzner, S.4
Berger, W.5
-
7
-
-
0036276367
-
Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2
-
Chapple, J.P., Hardcastle, A.J., Grayson, C., Willison, K.R. and Cheetham, M.E. (2002) Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2. Invest. Ophthalmol. Vis. Sci., 43, 2015-2020.
-
(2002)
Invest. Ophthalmol. Vis. Sci.
, vol.43
, pp. 2015-2020
-
-
Chapple, J.P.1
Hardcastle, A.J.2
Grayson, C.3
Willison, K.R.4
Cheetham, M.E.5
-
8
-
-
0037177814
-
Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor c
-
Bartolini, F., Bhamidipati, A., Thomas, S., Schwahn, U., Lewis, S.A. and Cowan, N.J. (2002) Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor c. J. Biol. Chem., 277, 14629-14634.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 14629-14634
-
-
Bartolini, F.1
Bhamidipati, A.2
Thomas, S.3
Schwahn, U.4
Lewis, S.A.5
Cowan, N.J.6
-
9
-
-
41649087361
-
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3
-
Veltel, S., Gasper, R., Eisenacher, E. and Wittinghofer, A. (2008) The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. Nat. Struct. Mol. Biol., 15, 373-380.
-
(2008)
Nat. Struct. Mol. Biol.
, vol.15
, pp. 373-380
-
-
Veltel, S.1
Gasper, R.2
Eisenacher, E.3
Wittinghofer, A.4
-
10
-
-
33645455399
-
ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development
-
Schrick, J., Vogel, P., Abuin, A., Hampton, B. and Rice, D. (2006) ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. Am. J. Pathol., 168, 1288-1298.
-
(2006)
Am. J. Pathol.
, vol.168
, pp. 1288-1298
-
-
Schrick, J.1
Vogel, P.2
Abuin, A.3
Hampton, B.4
Rice, D.5
-
11
-
-
22344445826
-
Cilia and the cell cycle?
-
Quarmby, L.M. and Parker, J.D.K. (2005) Cilia and the cell cycle? J. Cell Biol., 169, 707-710.
-
(2005)
J Cell Biol.
, vol.169
, pp. 707-710
-
-
Quarmby, L.M.1
Parker, J.D.K.2
-
12
-
-
27944469172
-
An incredible decade for the primary cilium: a look at a once-forgotten organelle
-
Davenport, J.R. and Yoder, B.K. (2005) An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am. J. Physiol. Renal Physiol., 289, 1159-1169.
-
(2005)
Am. J. Physiol. Renal Physiol.
, vol.289
, pp. 1159-1169
-
-
Davenport, J.R.1
Yoder, B.K.2
-
13
-
-
28844460656
-
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
-
Hildebrandt, F. and Otto, E. (2005) Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat. Rev. Genet., 6, 928-940.
-
(2005)
Nat Rev. Genet.
, vol.6
, pp. 928-940
-
-
Hildebrandt, F.1
Otto, E.2
-
14
-
-
33846211025
-
Sensory cilia and integration of signal transduction in human health and disease
-
Christensen, S.T., Pedersen, L.B., Schneider, L. and Satir, P. (2007) Sensory cilia and integration of signal transduction in human health and disease. Traffic, 8, 97-109.
-
(2007)
Traffic
, vol.8
, pp. 97-109
-
-
Christensen, S.T.1
Pedersen, L.B.2
Schneider, L.3
Satir, P.4
-
15
-
-
35448961665
-
When cilia go bad: cilia defects and ciliopathies
-
Fliegauf, M., Benzing, T. and Omran, H. (2007) When cilia go bad: cilia defects and ciliopathies. Nat. Rev. Mol. Cell Biol., 8, 880-893.
-
(2007)
Nat. Rev. Mol. Cell Biol.
, vol.8
, pp. 880-893
-
-
Fliegauf, M.1
Benzing, T.2
Omran, H.3
-
16
-
-
34848842128
-
The retinal ciliopathies
-
Adams, N., Awadein, A. and Toma, H. (2007) The retinal ciliopathies. Ophthalmic Genet., 28, 113-125.
-
(2007)
Ophthalmic Genet.
, vol.28
, pp. 113-125
-
-
Adams, N.1
Awadein, A.2
Toma, H.3
-
17
-
-
0034697971
-
Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors
-
Marszalek, J.R., Liu, X., Roberts, E.A., Chui, D., Marth, J.D., Williams, D.S. and Goldstein, L.S.B. (2000) Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell, 102, 175-187.
-
(2000)
Cell
, vol.102
, pp. 175-187
-
-
Marszalek, J.R.1
Liu, X.2
Roberts, E.A.3
Chui, D.4
Marth, J.D.5
Williams, D.S.6
Goldstein, L.S.B.7
-
18
-
-
34247099302
-
Analysis of kinesin-2 function in photoreceptor cells using synchronous cre-loxP knockout of Kif3a with RHO-Cre
-
Jimeno, D., Feiner, L., Lillo, C., Teofilo, K., Goldstein, L.S.B., Pierce, E.A. and Williams, D.S. (2006) Analysis of kinesin-2 function in photoreceptor cells using synchronous cre-loxP knockout of Kif3a with RHO-Cre. Invest. Ophthalmol. Vis. Sci., 47, 5039-5046.
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 5039-5046
-
-
Jimeno, D.1
Feiner, L.2
Lillo, C.3
Teofilo, K.4
Goldstein, L.S.B.5
Pierce, E.A.6
Williams, D.S.7
-
19
-
-
0036544554
-
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
-
Pazour, G.J., Baker, S.A., Deane, J.A., Cole, D.G., Dickert, B.L., Rosenbaum, J.L., Witman, G.B. and Besharse, J.C. (2002) The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance. J. Cell Biol., 157, 103-114.
-
(2002)
J. Cell Biol.
, vol.157
, pp. 103-114
-
-
Pazour, G.J.1
Baker, S.A.2
Deane, J.A.3
Cole, D.G.4
Dickert, B.L.5
Rosenbaum, J.L.6
Witman, G.B.7
Besharse, J.C.8
-
20
-
-
38449090748
-
Protein networks and complexes in photoreceptor cilia
-
Roepman, R. and Wolfrum, U. (2007) Protein networks and complexes in photoreceptor cilia. Subcell. Biochem., 43, 209-235.
-
(2007)
Subcell. Biochem.
, vol.43
, pp. 209-235
-
-
Roepman, R.1
Wolfrum, U.2
-
21
-
-
37549042393
-
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
-
Maerker, T., van Wijk, E., Overlack, N., Kersten, F.F.J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E.J., Kremer, H. et al. (2008) A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum. Mol. Genet., 17, 71-86.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 71-86
-
-
Maerker, T.1
van Wijk, E.2
Overlack, N.3
Kersten, F.F.J.4
McGee, J.5
Goldmann, T.6
Sehn, E.7
Roepman, R.8
Walsh, E.J.9
Kremer, H.10
-
22
-
-
0036901166
-
Intraflagellar transport and cilia-dependent diseases
-
Pazour, G.J. and Rosenbaum, J.L. (2002) Intraflagellar transport and cilia-dependent diseases. Trends Cell Biol., 12, 551-555.
-
(2002)
Trends Cell Biol.
, vol.12
, pp. 551-555
-
-
Pazour, G.J.1
Rosenbaum, J.L.2
-
24
-
-
0030602820
-
Pathway leading to correctly folded b-tubulin
-
Tian, G., Huang, Y., Rommelaere, H., Vandekerckhove, J., Ampe, C. and Cowan, N.J. (1996) Pathway leading to correctly folded b-tubulin. Cell, 86, 287-296.
-
(1996)
Cell
, vol.86
, pp. 287-296
-
-
Tian, G.1
Huang, Y.2
Rommelaere, H.3
Vandekerckhove, J.4
Ampe, C.5
Cowan, N.J.6
-
25
-
-
34548572834
-
An essential quality control mechanism at the eukaryotic basal body prior to intraflagellar transport
-
Stephan, A., Vaughan, S., Shaw, M., Gull, K. and McKean, P. (2007) An essential quality control mechanism at the eukaryotic basal body prior to intraflagellar transport. Traffic, 8, 1323-1330.
-
(2007)
Traffic
, vol.8
, pp. 1323-1330
-
-
Stephan, A.1
Vaughan, S.2
Shaw, M.3
Gull, K.4
McKean, P.5
-
26
-
-
67650976329
-
ASQ2 encodes a TBCC-like protein required for mother-daughter centriole linkage and mitotic spindle orientation
-
Feldman, J.L. and Marshall, W.F. (2009) ASQ2 encodes a TBCC-like protein required for mother-daughter centriole linkage and mitotic spindle orientation. Curr. Biol., 19, 1238-1243.
-
(2009)
Curr. Biol.
, vol.19
, pp. 1238-1243
-
-
Feldman, J.L.1
Marshall, W.F.2
-
27
-
-
43049179984
-
Centrin function in vertebrate photoreceptor cells
-
Trojan, P., Giessl, A., Choe, H.W., Krauss, N., Pulvermuller, A. and Wolfrum, U. (2008) Centrin function in vertebrate photoreceptor cells. Prog. Ret. Res., 28, 237-259.
-
(2008)
Prog. Ret. Res.
, vol.28
, pp. 237-259
-
-
Trojan, P.1
Giessl, A.2
Choe, H.W.3
Krauss, N.4
Pulvermuller, A.5
Wolfrum, U.6
-
28
-
-
31044439907
-
Focus on molecules: X-linked retinitis pigmentosa 2 protein, RP2.
-
Evans, R.J., Hardcastle, A.J. and Cheetham, M.E. (2007) Focus on molecules: X-linked retinitis pigmentosa 2 protein, RP2. Exp. Eye Res., 82, 543-544.
-
(2007)
Exp. Eye Res.
, vol.82
, pp. 543-544
-
-
Evans, R.J.1
Hardcastle, A.J.2
Cheetham, M.E.3
-
29
-
-
0032754379
-
Photoreceptor localization of the KIF3A and KIF3B subunits of the heterotrimeric microtubule motor Kinesin II in vertebrate retina
-
Whitehead, J.L., Wang, S.Y., Bost-Usinger, L., Hoang, E., Frazer, K.A. and Burnside, B. (1999) Photoreceptor localization of the KIF3A and KIF3B subunits of the heterotrimeric microtubule motor Kinesin II in vertebrate retina. Exp. Eye Res., 69, 491-503.
-
(1999)
Exp. Eye Res.
, vol.69
, pp. 491-503
-
-
Whitehead, J.L.1
Wang, S.Y.2
Bost-Usinger, L.3
Hoang, E.4
Frazer, K.A.5
Burnside, B.6
-
30
-
-
33750932783
-
A role for Kinesin-2 in COPI-dependent recycling between the ER and the Golgi complex
-
Stauber, T., Simpson, J.C., Pepperkok, R. and Vernos, I. (2006) A role for Kinesin-2 in COPI-dependent recycling between the ER and the Golgi complex. Curr. Biol., 16, 2245-2251.
-
(2006)
Curr. Biol.
, vol.16
, pp. 2245-2251
-
-
Stauber, T.1
Simpson, J.C.2
Pepperkok, R.3
Vernos, I.4
-
31
-
-
33745752819
-
Arl2 and Arl3 regulate different microtubule-dependent processes
-
Zhou, C., Cunningham, L., Marcus, A., Li, Y. and Kahn, R.A. (2006) Arl2 and Arl3 regulate different microtubule-dependent processes. Mol. Biol. Cell, 17, 2476-2487.
-
(2006)
Mol. Biol. Cell
, vol.17
, pp. 2476-2487
-
-
Zhou, C.1
Cunningham, L.2
Marcus, A.3
Li, Y.4
Kahn, R.A.5
-
32
-
-
38149099884
-
A Golgi fragmentation pathway in neurodegeneration
-
Nakagomi, S., Barsoum, M.J., Bossy-Wetzel, E., Sntterlin, C., Malhotra, V. and Lipton, S.A. (2008) A Golgi fragmentation pathway in neurodegeneration. Neurobiol. Dis., 29, 221-231.
-
(2008)
Neurobiol. Dis.
, vol.29
, pp. 221-231
-
-
Nakagomi, S.1
Barsoum, M.J.2
Bossy-Wetzel, E.3
Sntterlin, C.4
Malhotra, V.5
Lipton, S.A.6
-
34
-
-
33748327050
-
The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly
-
Follit, J.A., Tuft, R.A., Fogarty, K.E. and Pazour, G.J. (2006) The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly. Mol. Biol. Cell, 17, 3781-3792.
-
(2006)
Mol. Biol. Cell
, vol.17
, pp. 3781-3792
-
-
Follit, J.A.1
Tuft, R.A.2
Fogarty, K.E.3
Pazour, G.J.4
-
35
-
-
0033560770
-
Flagellar protein localization mediated by a calcium-myristoyl/palmitoyl switch mechanism
-
Godsel, L.M. and Engman, D.M. (1999) Flagellar protein localization mediated by a calcium-myristoyl/palmitoyl switch mechanism. EMBO J., 18, 2057-2065.
-
(1999)
EMBO J.
, vol.18
, pp. 2057-2065
-
-
Godsel, L.M.1
Engman, D.M.2
-
36
-
-
6344268939
-
SMP-1, a member of a new family of small myristoylated proteins in kinetoplastid parasites, is targeted to the flagellum membrane in Leishmania
-
Tull, D., Vince, J.E., Callaghan, J.M., Naderer, T., Spurck, T., McFadden, G.I., Currie, G., Ferguson, K., Bacic, A. and McConville, M.J. (2004) SMP-1, a member of a new family of small myristoylated proteins in kinetoplastid parasites, is targeted to the flagellum membrane in Leishmania. Mol. Biol. Cell, 15, 4775-4786.
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 4775-4786
-
-
Tull, D.1
Vince, J.E.2
Callaghan, J.M.3
Naderer, T.4
Spurck, T.5
McFadden, G.I.6
Currie, G.7
Ferguson, K.8
Bacic, A.9
McConville, M.J.10
-
37
-
-
22244458310
-
Proteomic analysis of a eukaryotic cilium
-
Pazour, G.J., Agrin, N., Leszyk, J. and Witman, G.B. (2005) Proteomic analysis of a eukaryotic cilium. J. Cell Biol., 170, 103-113.
-
(2005)
J. Cell Biol.
, vol.170
, pp. 103-113
-
-
Pazour, G.J.1
Agrin, N.2
Leszyk, J.3
Witman, G.B.4
-
38
-
-
72049130317
-
Cystin localizes to primary cilia via membrane microdomains and a targeting motif
-
Tao, B., Bu, S., Yang, Z., Siroky, B., Kappes, J.C., Kispert, A. and Guay-Woodford, L.M. (2009) Cystin localizes to primary cilia via membrane microdomains and a targeting motif. J. AM. Soc. Nephrol., 20, 2570-2580.
-
(2009)
J. AM. Soc. Nephrol.
, vol.20
, pp. 2570-2580
-
-
Tao, B.1
Bu, S.2
Yang, Z.3
Siroky, B.4
Kappes, J.C.5
Kispert, A.6
Guay-Woodford, L.M.7
-
39
-
-
0028238885
-
ADP-ribosylation factor (ARF)-like 3, a new member of the ARF family of GTP-binding proteins cloned from human and rat tissues
-
Cavenagh, M.M., Breiner, M., Schurmann, A., Rosenwald, A.G., Terui, T., Zhang, C., Randazzo, P.A., Adams, M., Joost, H.G. and Kahn, R.A. (1994) ADP-ribosylation factor (ARF)-like 3, a new member of the ARF family of GTP-binding proteins cloned from human and rat tissues. J. Biol. Chem., 26, 18937-18942.
-
(1994)
J. Biol. Chem.
, vol.26
, pp. 18937-18942
-
-
Cavenagh, M.M.1
Breiner, M.2
Schurmann, A.3
Rosenwald, A.G.4
Terui, T.5
Zhang, C.6
Randazzo, P.A.7
Adams, M.8
Joost, H.G.9
Kahn, R.A.10
-
40
-
-
39149115385
-
Conversion of plasma membrane topology during epithelial tube connection requires Arf-like 3 small GTPase in Drosophila
-
Kakihara, K., Shinmyozu, K., Kato, K., Wada, H. and Hayashi, S. (2003) Conversion of plasma membrane topology during epithelial tube connection requires Arf-like 3 small GTPase in Drosophila. Mech. Dev., 125, 325-336.
-
(2003)
Mech. Dev.
, vol.125
, pp. 325-336
-
-
Kakihara, K.1
Shinmyozu, K.2
Kato, K.3
Wada, H.4
Hayashi, S.5
-
41
-
-
0032884119
-
The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE [delta], interacts with the Arf-like protein Arl3 in a GTP specific manner
-
Linari, M., Hanzal-Bayer, M. and Becker, J. (1999) The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE [delta], interacts with the Arf-like protein Arl3 in a GTP specific manner. FEBS Lett., 458, 55-59.
-
(1999)
FEBS Lett.
, vol.458
, pp. 55-59
-
-
Linari, M.1
Hanzal-Bayer, M.2
Becker, J.3
-
42
-
-
0026017301
-
Distribution of F-actin in the compound eye of Calliphora erythrocephala (Diptera, Insecta)
-
Wolfrum, U. (1991) Distribution of F-actin in the compound eye of Calliphora erythrocephala (Diptera, Insecta). Cell Tiss. Res., 263, 399-403.
-
(1991)
Cell Tiss. Res.
, vol.263
, pp. 399-403
-
-
Wolfrum, U.1
|