-
1
-
-
84856290771
-
The centrosome in cells and organisms
-
Bornens, M. (2012) The centrosome in cells and organisms. Science, 335, 422-426.
-
(2012)
Science
, vol.335
, pp. 422-426
-
-
Bornens, M.1
-
2
-
-
84919733129
-
Centrosome dysfunction and senescence: coincidence or causality?
-
Hossain, D. and Tsang, W.Y. (2013) Centrosome dysfunction and senescence: coincidence or causality? Aging Sci., 1, 113.
-
(2013)
Aging Sci.
, vol.1
, pp. 113
-
-
Hossain, D.1
Tsang, W.Y.2
-
3
-
-
80053553994
-
The centrosome cycle: centriole biogenesis, duplication and inherent asymmetries
-
Nigg, E.A. and Stearns, T. (2011) The centrosome cycle: centriole biogenesis, duplication and inherent asymmetries. Nat. Cell Biol., 13, 1154-1160.
-
(2011)
Nat. Cell Biol.
, vol.13
, pp. 1154-1160
-
-
Nigg, E.A.1
Stearns, T.2
-
4
-
-
77954040650
-
Centrioles: active players or passengers during mitosis?
-
Debec, A., Sullivan, W. and Bettencourt-Dias, M. (2010) Centrioles: active players or passengers during mitosis? Cell Mol. Life Sci., 67, 2173-2194.
-
(2010)
Cell Mol. Life Sci.
, vol.67
, pp. 2173-2194
-
-
Debec, A.1
Sullivan, W.2
Bettencourt-dias, M.3
-
6
-
-
84856360903
-
Stages of ciliogenesis and regulation of ciliary length
-
Avasthi, P. and Marshall, W.F. (2012) Stages of ciliogenesis and regulation of ciliary length. Differentiation, 83, S30-S42.
-
(2012)
Differentiation
, vol.83
, pp. S30-S42
-
-
Avasthi, P.1
Marshall, W.F.2
-
7
-
-
84901940697
-
CP110 and its network of partners coordinately regulate cilia assembly
-
Tsang, W.Y. and Dynlacht, B.D. (2013) CP110 and its network of partners coordinately regulate cilia assembly. Cilia, 2, 9.
-
(2013)
Cilia
, vol.2
, pp. 9
-
-
Tsang, W.Y.1
Dynlacht, B.D.2
-
8
-
-
70350771277
-
Centrioles, centrosomes, and cilia in health and disease
-
Nigg, E.A. and Raff, J.W. (2009) Centrioles, centrosomes, and cilia in health and disease. Cell, 139, 663-678.
-
(2009)
Cell
, vol.139
, pp. 663-678
-
-
Nigg, E.A.1
Raff, J.W.2
-
9
-
-
79955138852
-
Ciliopathies
-
Hildebrandt, F., Benzing, T. and Katsanis, N. (2011) Ciliopathies. N. Engl. J. Med., 364, 1533-1543.
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 1533-1543
-
-
Hildebrandt, F.1
Benzing, T.2
Katsanis, N.3
-
10
-
-
84863793883
-
Genotypephenotype correlations in Bardet-Biedl syndrome
-
Daniels, A.B., Sandberg, M.A., Chen, J., Weigel-DiFranco, C., Fielding Hejtmancic, J. and Berson, E.L. (2012) Genotypephenotype correlations in Bardet-Biedl syndrome. Arch. Ophthalmol., 130, 901-907.
-
(2012)
Arch. Ophthalmol.
, vol.130
, pp. 901-907
-
-
Daniels, A.B.1
Sandberg, M.A.2
Chen, J.3
Weigel-diFranco, C.4
Fielding Hejtmancic, J.5
Berson, E.L.6
-
11
-
-
65649147891
-
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
-
Zaghloul, N.A. and Katsanis, N. (2009) Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J. Clin. Invest., 119, 428-437.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 428-437
-
-
Zaghloul, N.A.1
Katsanis, N.2
-
12
-
-
34250012834
-
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
-
Nachury, M.V., Loktev, A.V., Zhang, Q., Westlake, C.J., Peranen, J., Merdes, A., Slusarski, D.C., Scheller, R.H., Bazan, J.F., Sheffield, V.C. et al. (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell, 129, 1201-1213.
-
(2007)
Cell
, vol.129
, pp. 1201-1213
-
-
Nachury, M.V.1
Loktev, A.V.2
Zhang, Q.3
Westlake, C.J.4
Peranen, J.5
Merdes, A.6
Slusarski, D.C.7
Scheller, R.H.8
Bazan, J.F.9
Sheffield, V.C.10
-
13
-
-
57049171416
-
A BBSome subunit links ciliogenesis, microtubule stability, and acetylation
-
Loktev, A.V., Zhang, Q., Beck, J.S., Searby, C.C., Scheetz, T.E., Bazan, J.F., Slusarski, D.C., Sheffield, V.C., Jackson, P.K. and Nachury, M.V. (2008) A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev. Cell, 15, 854-865.
-
(2008)
Dev. Cell
, vol.15
, pp. 854-865
-
-
Loktev, A.V.1
Zhang, Q.2
Beck, J.S.3
Searby, C.C.4
Scheetz, T.E.5
Bazan, J.F.6
Slusarski, D.C.7
Sheffield, V.C.8
Jackson, P.K.9
Nachury, M.V.10
-
14
-
-
76549121983
-
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
-
Seo, S., Baye, L.M., Schulz, N.P., Beck, J.S., Zhang, Q., Slusarski, D.C. and Sheffield, V.C. (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. USA, 107, 1488-1493.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 1488-1493
-
-
Seo, S.1
Baye, L.M.2
Schulz, N.P.3
Beck, J.S.4
Zhang, Q.5
Slusarski, D.C.6
Sheffield, V.C.7
-
15
-
-
84862004139
-
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable Bardet-Biedl syndrome protein complex, the BBSome
-
Zhang, Q., Yu, D., Seo, S., Stone, E.M. and Sheffield, V.C. (2012) Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable Bardet-Biedl syndrome protein complex, the BBSome. J. Biol. Chem., 287, 20625-20635.
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 20625-20635
-
-
Zhang, Q.1
Yu, D.2
Seo, S.3
Stone, E.M.4
Sheffield, V.C.5
-
16
-
-
77953879123
-
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia
-
Jin, H., White, S.R., Shida, T., Schulz, S., Aguiar, M., Gygi, S.P., Bazan, J.F. and Nachury, M.V. (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell, 141, 1208-1219.
-
(2010)
Cell
, vol.141
, pp. 1208-1219
-
-
Jin, H.1
White, S.R.2
Shida, T.3
Schulz, S.4
Aguiar, M.5
Gygi, S.P.6
Bazan, J.F.7
Nachury, M.V.8
-
17
-
-
84865803552
-
The BBSome controls IFT assembly and turnaround in cilia
-
Wei, Q., Zhang, Y., Li, Y., Zhang, Q., Ling, K. and Hu, J. (2012) The BBSome controls IFT assembly and turnaround in cilia. Nat. Cell. Biol., 14, 950-957.
-
(2012)
Nat. Cell. Biol.
, vol.14
, pp. 950-957
-
-
Wei, Q.1
Zhang, Y.2
Li, Y.3
Zhang, Q.4
Ling, K.5
Hu, J.6
-
18
-
-
0027286361
-
A motility in the eukaryotic flagellum unrelated to flagellar beating
-
Kozminski, K.G., Johnson, K.A., Forscher, P. and Rosenbaum, J.L. (1993) A motility in the eukaryotic flagellum unrelated to flagellar beating. Proc. Natl. Acad. Sci. USA, 90, 5519-5523.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 5519-5523
-
-
Kozminski, K.G.1
Johnson, K.A.2
Forscher, P.3
Rosenbaum, J.L.4
-
19
-
-
2942625562
-
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
-
Mykytyn, K., Mullins, R.F., Andrews, M., Chiang, A.P., Swiderski, R.E., Yang, B., Braun, T., Casavant, T., Stone, E.M. and Sheffield, V.C. (2004) Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc. Natl. Acad. Sci. USA, 101, 8664-8669.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 8664-8669
-
-
Mykytyn, K.1
Mullins, R.F.2
Andrews, M.3
Chiang, A.P.4
Swiderski, R.E.5
Yang, B.6
Braun, T.7
Casavant, T.8
Stone, E.M.9
Sheffield, V.C.10
-
20
-
-
33845452416
-
The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport
-
Blacque, O.E., Li, C., Inglis, P.N., Esmail, M.A., Ou, G., Mah, A.K., Baillie, D.L., Scholey, J.M. and Leroux, M.R. (2006) The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport. Mol. Biol. Cell, 17, 5053-5062.
-
(2006)
Mol. Biol. Cell
, vol.17
, pp. 5053-5062
-
-
Blacque, O.E.1
Li, C.2
Inglis, P.N.3
Esmail, M.A.4
Ou, G.5
Mah, A.K.6
Baillie, D.L.7
Scholey, J.M.8
Leroux, M.R.9
-
21
-
-
76149101303
-
The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella
-
Lechtreck, K.F., Johnson, E.C., Sakai, T., Cochran, D., Ballif, B. A., Rush, J., Pazour, G.J., Ikebe, M. and Witman, G.B. (2009) The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella. J. Cell. Biol., 187, 1117-1132.
-
(2009)
J. Cell. Biol.
, vol.187
, pp. 1117-1132
-
-
Lechtreck, K.F.1
Johnson, E.C.2
Sakai, T.3
Cochran, D.4
Ballif, B.A.5
Rush, J.6
Pazour, G.J.7
Ikebe, M.8
Witman, G.B.9
-
22
-
-
81755177811
-
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened
-
e1002358
-
Seo, S., Zhang, Q., Bugge, K., Breslow, D.K., Searby, C.C., Nachury, M.V. and Sheffield, V.C. (2011) A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet., 7, e1002358.
-
(2011)
PLoS Genet.
, vol.7
-
-
Seo, S.1
Zhang, Q.2
Bugge, K.3
Breslow, D.K.4
Searby, C.C.5
Nachury, M.V.6
Sheffield, V.C.7
-
23
-
-
84863327175
-
The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization
-
Reiter, J.F., Blacque, O.E. and Leroux, M.R. (2012) The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization. EMBO Rep., 13, 608-618.
-
(2012)
EMBO Rep.
, vol.13
, pp. 608-618
-
-
Reiter, J.F.1
Blacque, O.E.2
Leroux, M.R.3
-
24
-
-
79955808192
-
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
-
Sang, L., Miller, J.J., Corbit, K.C., Giles, R.H., Brauer, M.J., Otto, E.A., Baye, L.M., Wen, X., Scales, S.J., Kwong, M. et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell, 145, 513-528.
-
(2011)
Cell
, vol.145
, pp. 513-528
-
-
Sang, L.1
Miller, J.J.2
Corbit, K.C.3
Giles, R.H.4
Brauer, M.J.5
Otto, E.A.6
Baye, L.M.7
Wen, X.8
Scales, S.J.9
Kwong, M.10
-
25
-
-
84878478625
-
Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis
-
Barbelanne, M., Song, J., Ahmadzai, M. and Tsang, W.Y. (2013) Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. Hum. Mol. Genet., 22, 2482-2494.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2482-2494
-
-
Barbelanne, M.1
Song, J.2
Ahmadzai, M.3
Tsang, W.Y.4
-
26
-
-
56049117868
-
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
-
Schafer, T., Putz, M., Lienkamp, S., Ganner, A., Bergbreiter, A., Ramachandran, H., Gieloff, V., Gerner, M., Mattonet, C., Czarnecki, P.G. et al. (2008) Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum. Mol. Genet., 17, 3655-3662.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3655-3662
-
-
Schafer, T.1
Putz, M.2
Lienkamp, S.3
Ganner, A.4
Bergbreiter, A.5
Ramachandran, H.6
Gieloff, V.7
Gerner, M.8
Mattonet, C.9
Czarnecki, P.G.10
-
27
-
-
79955513961
-
MKS and NPHP modules cooperate to establish basal body/ transition zone membrane associations and ciliary gate function during ciliogenesis
-
Williams, C.L., Li, C., Kida, K., Inglis, P.N., Mohan, S., Semenec, L., Bialas, N.J., Stupay, R.M., Chen, N., Blacque, O.E. et al. (2011) MKS and NPHP modules cooperate to establish basal body/ transition zone membrane associations and ciliary gate function during ciliogenesis. J. Cell. Biol., 192, 1023-1041.
-
(2011)
J. Cell. Biol.
, vol.192
, pp. 1023-1041
-
-
Williams, C.L.1
Li, C.2
Kida, K.3
Inglis, P.N.4
Mohan, S.5
Semenec, L.6
Bialas, N.J.7
Stupay, R.M.8
Chen, N.9
Blacque, O.E.10
-
28
-
-
84913573348
-
Nephrocystin-4 controls ciliary trafficking of membrane and large soluble proteins at the transition zone
-
Awata, J., Takada, S., Standley, C., Lechtreck, K.F., Bellve, K.D., Pazour, G.J., Fogarty, K.E. and Witman, G.B. (2014) Nephrocystin-4 controls ciliary trafficking of membrane and large soluble proteins at the transition zone. J. Cell. Sci, 127, 4714-4727.
-
(2014)
J. Cell. Sci
, vol.127
, pp. 4714-4727
-
-
Awata, J.1
Takada, S.2
Standley, C.3
Lechtreck, K.F.4
Bellve, K.D.5
Pazour, G.J.6
Fogarty, K.E.7
Witman, G.B.8
-
29
-
-
84355161803
-
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
-
Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L.G., Hass, P. E., Sandoval, W. and Peterson, A.S. (2012) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat. Cell. Biol., 14, 61-72.
-
(2012)
Nat. Cell. Biol.
, vol.14
, pp. 61-72
-
-
Chih, B.1
Liu, P.2
Chinn, Y.3
Chalouni, C.4
Komuves, L.G.5
Hass, P.E.6
Sandoval, W.7
Peterson, A.S.8
-
30
-
-
79960900387
-
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
-
Garcia-Gonzalo, F.R., Corbit, K.C., Sirerol-Piquer, M.S., Ramaswami, G., Otto, E.A., Noriega, T.R., Seol, A.D., Robinson, J.F., Bennett, C.L., Josifova, D.J. et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet., 43, 776-784.
-
(2011)
Nat. Genet.
, vol.43
, pp. 776-784
-
-
Garcia-gonzalo, F.R.1
Corbit, K.C.2
Sirerol-piquer, M.S.3
Ramaswami, G.4
Otto, E.A.5
Noriega, T.R.6
Seol, A.D.7
Robinson, J.F.8
Bennett, C.L.9
Josifova, D.J.10
-
31
-
-
84862780073
-
A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia
-
Kee, H.L., Dishinger, J.F., Blasius, T.L., Liu, C.J., Margolis, B. and Verhey, K.J. (2012) A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia. Nat. Cell. Biol., 14, 431-437.
-
(2012)
Nat. Cell. Biol.
, vol.14
, pp. 431-437
-
-
Kee, H.L.1
Dishinger, J.F.2
Blasius, T.L.3
Liu, C.J.4
Margolis, B.5
Verhey, K.J.6
-
32
-
-
40549121923
-
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
-
Otto, E.A., Helou, J., Allen, S.J., O'Toole, J.F., Wise, E.L., Ashraf, S., Attanasio, M., Zhou, W., Wolf, M.T. and Hildebrandt, F. (2008) Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum. Mutat., 29, 418-426.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 418-426
-
-
Otto, E.A.1
Helou, J.2
Allen, S.J.3
O'Toole, J.F.4
Wise, E.L.5
Ashraf, S.6
Attanasio, M.7
Zhou, W.8
Wolf, M.T.9
Hildebrandt, F.10
-
33
-
-
20144375842
-
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
-
Otto, E.A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J.F., Helou, J., Attanasio, M. et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet., 37, 282-288.
-
(2005)
Nat. Genet.
, vol.37
, pp. 282-288
-
-
Otto, E.A.1
Loeys, B.2
Khanna, H.3
Hellemans, J.4
Sudbrak, R.5
Fan, S.6
Muerb, U.7
O'Toole, J.F.8
Helou, J.9
Attanasio, M.10
-
34
-
-
78651271750
-
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome
-
Stone, E.M., Cideciyan, A.V., Aleman, T.S., Scheetz, T.E., Sumaroka, A., Ehlinger, M.A., Schwartz, S.B., Fishman, G.A., Traboulsi, E.I., Lam, B.L. et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch. Ophthalmol., 129, 81-87.
-
(2011)
Arch. Ophthalmol.
, vol.129
, pp. 81-87
-
-
Stone, E.M.1
Cideciyan, A.V.2
Aleman, T.S.3
Scheetz, T.E.4
Sumaroka, A.5
Ehlinger, M.A.6
Schwartz, S.B.7
Fishman, G.A.8
Traboulsi, E.I.9
Lam, B.L.10
-
35
-
-
79953279282
-
IQCB1 mutations in patients with leber congenital amaurosis
-
Estrada-Cuzcano, A., Koenekoop, R.K., Coppieters, F., Kohl, S., Lopez, I., Collin, R.W., De Baere, E.B., Roeleveld, D., Marek, J., Bernd, A. et al. (2011) IQCB1 mutations in patients with leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci., 52, 834-839.
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 834-839
-
-
Estrada-cuzcano, A.1
Koenekoop, R.K.2
Coppieters, F.3
Kohl, S.4
Lopez, I.5
Collin, R.W.6
De Baere, E.B.7
Roeleveld, D.8
Marek, J.9
Bernd, A.10
-
36
-
-
33646562887
-
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
-
Chiang, A.P., Beck, J.S., Yen, H.J., Tayeh, M.K., Scheetz, T.E., Swiderski, R.E., Nishimura, D.Y., Braun, T.A., Kim, K.Y., Huang, J. et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc. Natl. Acad. Sci. USA, 103, 6287-6292.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 6287-6292
-
-
Chiang, A.P.1
Beck, J.S.2
Yen, H.J.3
Tayeh, M.K.4
Scheetz, T.E.5
Swiderski, R.E.6
Nishimura, D.Y.7
Braun, T.A.8
Kim, K.Y.9
Huang, J.10
-
37
-
-
28244502271
-
Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers
-
Luo, X., He, Q., Huang, Y. and Sheikh, M.S. (2005) Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers. Cancer Res., 65, 10725-10733.
-
(2005)
Cancer Res.
, vol.65
, pp. 10725-10733
-
-
Luo, X.1
He, Q.2
Huang, Y.3
Sheikh, M.S.4
-
38
-
-
33751252292
-
Direct observation of individual endogenous protein complexes in situ by proximity ligation
-
Soderberg, O., Gullberg, M., Jarvius, M., Ridderstrale, K., Leuchowius, K.J., Jarvius, J., Wester, K., Hydbring, P., Bahram, F., Larsson, L.G. et al. (2006) Direct observation of individual endogenous protein complexes in situ by proximity ligation. Nat. Methods, 3, 995-1000.
-
(2006)
Nat. Methods
, vol.3
, pp. 995-1000
-
-
Soderberg, O.1
Gullberg, M.2
Jarvius, M.3
Ridderstrale, K.4
Leuchowius, K.J.5
Jarvius, J.6
Wester, K.7
Hydbring, P.8
Bahram, F.9
Larsson, L.G.10
-
39
-
-
84890369088
-
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
-
Zhang, Y., Seo, S., Bhattarai, S., Bugge, K., Searby, C.C., Zhang, Q., Drack, A.V., Stone, E.M. and Sheffield, V.C. (2014) BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum. Mol. Genet., 23, 40-51.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 40-51
-
-
Zhang, Y.1
Seo, S.2
Bhattarai, S.3
Bugge, K.4
Searby, C.C.5
Zhang, Q.6
Drack, A.V.7
Stone, E.M.8
Sheffield, V.C.9
-
40
-
-
77952351554
-
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling
-
Wiens, C.J., Tong, Y., Esmail, M.A., Oh, E., Gerdes, J.M., Wang, J., Tempel, W., Rattner, J.B., Katsanis, N., Park, H.W. et al. (2010) Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. J. Biol. Chem., 285, 16218-16230.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 16218-16230
-
-
Wiens, C.J.1
Tong, Y.2
Esmail, M.A.3
Oh, E.4
Gerdes, J.M.5
Wang, J.6
Tempel, W.7
Rattner, J.B.8
Katsanis, N.9
Park, H.W.10
-
41
-
-
33846646986
-
The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
-
Dawe, H.R., Smith, U.M., Cullinane, A.R., Gerrelli, D., Cox, P., Badano, J.L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T. et al. (2007) The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet., 16, 173-186.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 173-186
-
-
Dawe, H.R.1
Smith, U.M.2
Cullinane, A.R.3
Gerrelli, D.4
Cox, P.5
Badano, J.L.6
Blair-reid, S.7
Sriram, N.8
Katsanis, N.9
Attie-bitach, T.10
-
42
-
-
42149164885
-
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia
-
Shah, A.S., Farmen, S.L., Moninger, T.O., Businga, T.R., Andrews, M.P., Bugge, K., Searby, C.C., Nishimura, D., Brogden, K.A., Kline, J.N. et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc. Natl. Acad. Sci. USA, 105, 3380-3385.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 3380-3385
-
-
Shah, A.S.1
Farmen, S.L.2
Moninger, T.O.3
Businga, T.R.4
Andrews, M.P.5
Bugge, K.6
Searby, C.C.7
Nishimura, D.8
Brogden, K.A.9
Kline, J.N.10
-
43
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley, S.J., Badano, J.L., Blacque, O.E., Hill, J., Hoskins, B.E., Leitch, C.C., Kim, J.C., Ross, A.J., Eichers, E.R., Teslovich, T.M. et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature, 425, 628-633.
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
Hill, J.4
Hoskins, B.E.5
Leitch, C.C.6
Kim, J.C.7
Ross, A.J.8
Eichers, E.R.9
Teslovich, T.M.10
-
44
-
-
20244381625
-
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
-
Kim, J.C., Badano, J.L., Sibold, S., Esmail, M.A., Hill, J., Hoskins, B.E., Leitch, C.C., Venner, K., Ansley, S.J., Ross, A.J. et al. (2004) The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat. Genet., 36, 462-470.
-
(2004)
Nat. Genet.
, vol.36
, pp. 462-470
-
-
Kim, J.C.1
Badano, J.L.2
Sibold, S.3
Esmail, M.A.4
Hill, J.5
Hoskins, B.E.6
Leitch, C.C.7
Venner, K.8
Ansley, S.J.9
Ross, A.J.10
-
45
-
-
20144386878
-
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
-
Kim, J.C., Ou, Y.Y., Badano, J.L., Esmail, M.A., Leitch, C.C., Fiedrich, E., Beales, P.L., Archibald, J.M., Katsanis, N., Rattner, J.B. et al. (2005) MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J. Cell. Sci., 118, 1007-1020.
-
(2005)
J. Cell. Sci.
, vol.118
, pp. 1007-1020
-
-
Kim, J.C.1
Ou, Y.Y.2
Badano, J.L.3
Esmail, M.A.4
Leitch, C.C.5
Fiedrich, E.6
Beales, P.L.7
Archibald, J.M.8
Katsanis, N.9
Rattner, J.B.10
-
46
-
-
56049117628
-
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
-
Kim, J., Krishnaswami, S.R. and Gleeson, J.G. (2008) CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum. Mol. Genet., 17, 3796-3805.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3796-3805
-
-
Kim, J.1
Krishnaswami, S.R.2
Gleeson, J.G.3
-
47
-
-
33744757686
-
Inframe deletion in a novel centrosomal/ciliary protein CEP290/ NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
-
Chang, B., Khanna, H., Hawes, N., Jimeno, D., He, S., Lillo, C., Parapuram, S.K., Cheng, H., Scott, A., Hurd, R.E. et al. (2006) Inframe deletion in a novel centrosomal/ciliary protein CEP290/ NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet., 15, 1847-1857.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
Jimeno, D.4
He, S.5
Lillo, C.6
Parapuram, S.K.7
Cheng, H.8
Scott, A.9
Hurd, R.E.10
-
48
-
-
48549102438
-
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease
-
Tsang, W.Y., Bossard, C., Khanna, H., Peranen, J., Swaroop, A., Malhotra, V. and Dynlacht, B.D. (2008) CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev. Cell, 15, 187-197.
-
(2008)
Dev. Cell
, vol.15
, pp. 187-197
-
-
Tsang, W.Y.1
Bossard, C.2
Khanna, H.3
Peranen, J.4
Swaroop, A.5
Malhotra, V.6
Dynlacht, B.D.7
-
49
-
-
62149117660
-
Localization of Inv in a distinctive intraciliary compartment requires the C-terminal nineinhomolog-containing region
-
Shiba, D., Yamaoka, Y., Hagiwara, H., Takamatsu, T., Hamada, H. and Yokoyama, T. (2009) Localization of Inv in a distinctive intraciliary compartment requires the C-terminal nineinhomolog-containing region. J. Cell. Sci., 122, 44-54.
-
(2009)
J. Cell. Sci.
, vol.122
, pp. 44-54
-
-
Shiba, D.1
Yamaoka, Y.2
Hagiwara, H.3
Takamatsu, T.4
Hamada, H.5
Yokoyama, T.6
-
50
-
-
77951895173
-
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia
-
Shiba, D., Manning, D.K., Koga, H., Beier, D.R. and Yokoyama, T. (2010) Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton (Hoboken), 67, 112-119.
-
(2010)
Cytoskeleton (Hoboken)
, vol.67
, pp. 112-119
-
-
Shiba, D.1
Manning, D.K.2
Koga, H.3
Beier, D.R.4
Yokoyama, T.5
-
51
-
-
84867678037
-
A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia
-
Dorn, K.V., Hughes, C.E. and Rohatgi, R. (2012) A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia. Dev. Cell, 23, 823-835.
-
(2012)
Dev. Cell
, vol.23
, pp. 823-835
-
-
Dorn, K.V.1
Hughes, C.E.2
Rohatgi, R.3
-
52
-
-
84901742708
-
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome
-
e1004083
-
Chamling, X., Seo, S., Searby, C.C., Kim, G., Slusarski, D.C. and Sheffield, V.C. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet., 10, e1004083.
-
(2014)
PLoS Genet.
, vol.10
-
-
Chamling, X.1
Seo, S.2
Searby, C.C.3
Kim, G.4
Slusarski, D.C.5
Sheffield, V.C.6
-
53
-
-
35548974826
-
Cep164, a novel centriole appendage protein required for primary cilium formation
-
Graser, S., Stierhof, Y.D., Lavoie, S.B., Gassner, O.S., Lamla, S., Le Clech, M. and Nigg, E.A. (2007) Cep164, a novel centriole appendage protein required for primary cilium formation. J. Cell Biol., 179, 321-330.
-
(2007)
J. Cell Biol.
, vol.179
, pp. 321-330
-
-
Graser, S.1
Stierhof, Y.D.2
Lavoie, S.B.3
Gassner, O.S.4
Lamla, S.5
Le Clech, M.6
Nigg, E.A.7
-
54
-
-
84865709186
-
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium
-
Stowe, T.R., Wilkinson, C.J., Iqbal, A. and Stearns, T. (2012) The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. Mol. Biol. Cell, 23, 3322-3335.
-
(2012)
Mol. Biol. Cell
, vol.23
, pp. 3322-3335
-
-
Stowe, T.R.1
Wilkinson, C.J.2
Iqbal, A.3
Stearns, T.4
-
55
-
-
84859219770
-
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
-
Zhang, Q., Seo, S., Bugge, K., Stone, E.M. and Sheffield, V.C. (2012) BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum. Mol. Genet., 21, 1945-1953.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1945-1953
-
-
Zhang, Q.1
Seo, S.2
Bugge, K.3
Stone, E.M.4
Sheffield, V.C.5
-
56
-
-
41949116864
-
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
-
Berbari, N.F., Lewis, J.S., Bishop, G.A., Askwith, C.C. and Mykytyn, K. (2008) Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc. Natl. Acad. Sci. USA, 105, 4242-4246.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 4242-4246
-
-
Berbari, N.F.1
Lewis, J.S.2
Bishop, G.A.3
Askwith, C.C.4
Mykytyn, K.5
-
57
-
-
84897630786
-
Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia
-
Soetedjo, L., Glover, D.A. and Jin, H. (2013) Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia. Biol. Open., 2, 686-694.
-
(2013)
Biol. Open.
, vol.2
, pp. 686-694
-
-
Soetedjo, L.1
Glover, D.A.2
Jin, H.3
-
58
-
-
80051798889
-
Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins
-
Domire, J.S., Green, J.A., Lee, K.G., Johnson, A.D., Askwith, C.C. and Mykytyn, K. (2011) Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins. Cell. Mol. Life Sci., 68, 2951-2960.
-
(2011)
Cell. Mol. Life Sci.
, vol.68
, pp. 2951-2960
-
-
Domire, J.S.1
Green, J.A.2
Lee, K.G.3
Johnson, A.D.4
Askwith, C.C.5
Mykytyn, K.6
-
59
-
-
84880005129
-
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking
-
Zhang, Q., Nishimura, D., Vogel, T., Shao, J., Swiderski, R., Yin, T., Searby, C., Carter, C.S., Kim, G., Bugge, K. et al. (2013) BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J. Cell Sci., 126, 2372-2380.
-
(2013)
J. Cell Sci.
, vol.126
, pp. 2372-2380
-
-
Zhang, Q.1
Nishimura, D.2
Vogel, T.3
Shao, J.4
Swiderski, R.5
Yin, T.6
Searby, C.7
Carter, C.S.8
Kim, G.9
Bugge, K.10
-
60
-
-
77956388187
-
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
-
Craige, B., Tsao, C.C., Diener, D.R., Hou, Y., Lechtreck, K.F., Rosenbaum, J.L. and Witman, G.B. (2010) CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J. Cell Biol., 190, 927-940.
-
(2010)
J. Cell Biol.
, vol.190
, pp. 927-940
-
-
Craige, B.1
Tsao, C.C.2
Diener, D.R.3
Hou, Y.4
Lechtreck, K.F.5
Rosenbaum, J.L.6
Witman, G.B.7
-
61
-
-
84885034719
-
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
-
Drivas, T.G., Holzbaur, E.L. and Bennett, J. (2013) Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. J. Clin. Invest., 123, 4525-4539.
-
(2013)
J. Clin. Invest.
, vol.123
, pp. 4525-4539
-
-
Drivas, T.G.1
Holzbaur, E.L.2
Bennett, J.3
-
62
-
-
55249102622
-
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
-
Gorden, N.T., Arts, H.H., Parisi, M.A., Coene, K.L., Letteboer, S.J., van Beersum, S.E., Mans, D.A., Hikida, A., Eckert, M., Knutzen, D. et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am. J. Hum. Genet., 83, 559-571.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 559-571
-
-
Gorden, N.T.1
Arts, H.H.2
Parisi, M.A.3
Coene, K.L.4
Letteboer, S.J.5
van Beersum, S.E.6
Mans, D.A.7
Hikida, A.8
Eckert, M.9
Knutzen, D.10
-
63
-
-
84904012713
-
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis
-
Hynes, A.M., Giles, R.H., Srivastava, S., Eley, L., Whitehead, J., Danilenko, M., Raman, S., Slaats, G.G., Colville, J.G., Ajzenberg, H. et al. (2014) Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. Proc. Natl. Acad. Sci. USA, 111, 9893-9898.
-
(2014)
Proc. Natl. Acad. Sci. USA
, vol.111
, pp. 9893-9898
-
-
Hynes, A.M.1
Giles, R.H.2
Srivastava, S.3
Eley, L.4
Whitehead, J.5
Danilenko, M.6
Raman, S.7
Slaats, G.G.8
Colville, J.G.9
Ajzenberg, H.10
-
64
-
-
0029819793
-
Rab8 promotes polarized membrane transport through reorganization of actin and microtubules in fibroblasts
-
Peranen, J., Auvinen, P., Virta, H., Wepf, R. and Simons, K. (1996) Rab8 promotes polarized membrane transport through reorganization of actin and microtubules in fibroblasts. J. Cell Biol., 135, 153-167.
-
(1996)
J. Cell Biol.
, vol.135
, pp. 153-167
-
-
Peranen, J.1
Auvinen, P.2
Virta, H.3
Wepf, R.4
Simons, K.5
|