-
1
-
-
79956193249
-
Regulating the transition from centriole to basal body
-
Kobayashi T, Dynlacht BD. Regulating the transition from centriole to basal body. J Cell Biol. 2011;193(3):435-444.
-
(2011)
J Cell Biol
, vol.193
, Issue.3
, pp. 435-444
-
-
Kobayashi, T.1
Dynlacht, B.D.2
-
2
-
-
34548490748
-
Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease
-
Davenport JR, et al. Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr Biol. 2007;17(18):1586-1594.
-
(2007)
Curr Biol
, vol.17
, Issue.18
, pp. 1586-1594
-
-
Davenport, J.R.1
-
3
-
-
69949166247
-
Dual and opposing roles of primary cilia in medulloblastoma development
-
Han Y-G, et al. Dual and opposing roles of primary cilia in medulloblastoma development. Nat Med. 2009;15(9):1062-1065.
-
(2009)
Nat Med
, vol.15
, Issue.9
, pp. 1062-1065
-
-
Han, Y.-G.1
-
4
-
-
69949136621
-
Primary cilia can both mediate and suppress Hedgehog pathway-dependent tumorigenesis
-
Wong SY, et al. Primary cilia can both mediate and suppress Hedgehog pathway-dependent tumorigenesis. Nat Med. 2009;15(9):1055-1061.
-
(2009)
Nat Med
, vol.15
, Issue.9
, pp. 1055-1061
-
-
Wong, S.Y.1
-
5
-
-
80052446941
-
Ciliopathies: An expanding disease spectrum
-
Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol. 2011;26(7):1039-1056.
-
(2011)
Pediatr Nephrol
, vol.26
, Issue.7
, pp. 1039-1056
-
-
Waters, A.M.1
Beales, P.L.2
-
6
-
-
70449646115
-
The dynamic cilium in human diseases
-
D'Angelo A, Franco B. The dynamic cilium in human diseases. Pathogenetics. 2009;2(1):3.
-
(2009)
Pathogenetics
, vol.2
, Issue.1
, pp. 3
-
-
D'Angelo, A.1
Franco, B.2
-
7
-
-
34247886003
-
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
-
Perrault I, et al. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007;28(4):416.
-
(2007)
Hum Mutat
, vol.28
, Issue.4
, pp. 416
-
-
Perrault, I.1
-
8
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
Den Hollander AI, Roepman R, Koenekoop RK, Cremers FPM. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27(4):391-419.
-
(2008)
Prog Retin Eye Res
, vol.27
, Issue.4
, pp. 391-419
-
-
Den Hollander, A.I.1
Roepman, R.2
Koenekoop, R.K.3
Cremers, F.P.M.4
-
9
-
-
33745230448
-
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
-
Sayer JA, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006;38(6):674-681.
-
(2006)
Nat Genet
, vol.38
, Issue.6
, pp. 674-681
-
-
Sayer, J.A.1
-
10
-
-
33745225873
-
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
-
Valente EM, et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006;38(6):623-625.
-
(2006)
Nat Genet
, vol.38
, Issue.6
, pp. 623-625
-
-
Valente, E.M.1
-
11
-
-
34347225615
-
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
-
Brancati F, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007;81(1):104-113.
-
(2007)
Am J Hum Genet
, vol.81
, Issue.1
, pp. 104-113
-
-
Brancati, F.1
-
12
-
-
35348816684
-
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome
-
Helou J, et al. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet. 2007;44(10):657-663.
-
(2007)
J Med Genet
, vol.44
, Issue.10
, pp. 657-663
-
-
Helou, J.1
-
13
-
-
34347224779
-
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
-
Baala L, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007;81(1):170-179.
-
(2007)
Am J Hum Genet
, vol.81
, Issue.1
, pp. 170-179
-
-
Baala, L.1
-
14
-
-
33744757686
-
In-frame 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, et al. In-frame 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. 2006;15(11):1847-1857.
-
(2006)
Hum Mol Genet
, vol.15
, Issue.11
, pp. 1847-1857
-
-
Chang, B.1
-
15
-
-
48549102438
-
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease
-
Tsang WY, et al. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell. 2008;15(2):187-197.
-
(2008)
Dev Cell
, vol.15
, Issue.2
, pp. 187-197
-
-
Tsang, W.Y.1
-
16
-
-
34547939469
-
Cep97 and CP110 suppress a cilia assembly program
-
Spektor A, Tsang WY, Khoo D, Dynlacht BD. Cep97 and CP110 suppress a cilia assembly program. Cell. 2007;130(4):678-690.
-
(2007)
Cell
, vol.130
, Issue.4
, pp. 678-690
-
-
Spektor, A.1
Tsang, W.Y.2
Khoo, D.3
Dynlacht, B.D.4
-
17
-
-
84869069719
-
The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis
-
Goetz SC, Liem KF Jr, Anderson KV. The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. Cell. 2012;151(4):847-858.
-
(2012)
Cell
, vol.151
, Issue.4
, pp. 847-858
-
-
Goetz, S.C.1
Liem Jr., K.F.2
Anderson, K.V.3
-
18
-
-
58149326846
-
Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling
-
Pedersen LB, Rosenbaum JL. Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling. Curr Top Dev Biol. 2008;85:23-61.
-
(2008)
Curr Top Dev Biol
, vol.85
, pp. 23-61
-
-
Pedersen, L.B.1
Rosenbaum, J.L.2
-
19
-
-
77956388187
-
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
-
Craige B, et al. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J Cell Biol. 2010;190(5):927-940.
-
(2010)
J Cell Biol
, vol.190
, Issue.5
, pp. 927-940
-
-
Craige, B.1
-
20
-
-
56049117628
-
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
-
Kim J, Krishnaswami SR, Gleeson JG. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet. 2008;17(23):3796-3805.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.23
, pp. 3796-3805
-
-
Kim, J.1
Krishnaswami, S.R.2
Gleeson, J.G.3
-
21
-
-
84865709186
-
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium
-
Stowe TR, Wilkinson CJ, Iqbal A, Stearns T. The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. Mol Biol Cell. 2012;23(17):3322-3335.
-
(2012)
Mol Biol Cell
, vol.23
, Issue.17
, pp. 3322-3335
-
-
Stowe, T.R.1
Wilkinson, C.J.2
Iqbal, A.3
Stearns, T.4
-
22
-
-
79955513961
-
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
-
Williams CL, et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol. 2011;192(6):1023-1041.
-
(2011)
J Cell Biol
, vol.192
, Issue.6
, pp. 1023-1041
-
-
Williams, C.L.1
-
23
-
-
79959342286
-
Ciliary diffusion barrier: The gatekeeper for the primary cilium compartment
-
Hu Q, Nelson WJ. Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment. Cytoskeleton (Hoboken). 2011;68(6):313-324.
-
(2011)
Cytoskeleton (Hoboken)
, vol.68
, Issue.6
, pp. 313-324
-
-
Hu, Q.1
Nelson, W.J.2
-
24
-
-
84862780073
-
A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia
-
Kee HL, et al. A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia. Nat Cell Biol. 2012;14(4):431-437.
-
(2012)
Nat Cell Biol
, vol.14
, Issue.4
, pp. 431-437
-
-
Kee, H.L.1
-
25
-
-
55249102622
-
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
-
Gorden NT, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet. 2008;83(5):559-571.
-
(2008)
Am J Hum Genet
, vol.83
, Issue.5
, pp. 559-571
-
-
Gorden, N.T.1
-
26
-
-
56049117868
-
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
-
Schäfer T, et al. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet. 2008;17(23):3655-3662.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.23
, pp. 3655-3662
-
-
Schäfer, T.1
-
27
-
-
79951551589
-
Focus on molecules: Centrosomal protein 290 (CEP290)
-
Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT. Focus on molecules: centrosomal protein 290 (CEP290). Exp Eye Res. 2011;92(5):316-317.
-
(2011)
Exp Eye Res
, vol.92
, Issue.5
, pp. 316-317
-
-
Moradi, P.1
Davies, W.L.2
Mackay, D.S.3
Cheetham, M.E.4
Moore, A.T.5
-
28
-
-
78149296423
-
CEP290, a gene with many faces: Mutation overview and presentation of CEP290base
-
Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010;31(10):1097-1108.
-
(2010)
Hum Mutat
, vol.31
, Issue.10
, pp. 1097-1108
-
-
Coppieters, F.1
Lefever, S.2
Leroy, B.P.3
De Baere, E.4
-
29
-
-
84871834183
-
Arl13b regulates endocytic recycling traffic
-
Barral DC, et al. Arl13b regulates endocytic recycling traffic. Proc Natl Acad Sci U S A. 2012;109(52):21354-21359.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, Issue.52
, pp. 21354-21359
-
-
Barral, D.C.1
-
30
-
-
77949716057
-
Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans
-
Cevik S, et al. Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. J Cell Biol. 2010;188(6):953-969.
-
(2010)
J Cell Biol
, vol.188
, Issue.6
, pp. 953-969
-
-
Cevik, S.1
-
31
-
-
77953565925
-
The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis
-
Li Y, Wei Q, Zhang Y, Ling K, Hu J. The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis. J Cell Biol. 2010;189(6):1039-1051.
-
(2010)
J Cell Biol
, vol.189
, Issue.6
, pp. 1039-1051
-
-
Li, Y.1
Wei, Q.2
Zhang, Y.3
Ling, K.4
Hu, J.5
-
32
-
-
0029030937
-
EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif
-
Mu FT, et al. EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif. J Biol Chem. 1995;270(22):13503-13511.
-
(1995)
J Biol Chem
, vol.270
, Issue.22
, pp. 13503-13511
-
-
Mu, F.T.1
-
33
-
-
0029795180
-
Cytosolic and membrane-associated proteins involved in the recruitment of AP-1 adaptors onto the trans-Golgi network
-
Seaman MN, Sowerby PJ, Robinson MS. Cytosolic and membrane-associated proteins involved in the recruitment of AP-1 adaptors onto the trans-Golgi network. J Biol Chem. 1996;271(41):25446-25451.
-
(1996)
J Biol Chem
, vol.271
, Issue.41
, pp. 25446-25451
-
-
Seaman, M.N.1
Sowerby, P.J.2
Robinson, M.S.3
-
34
-
-
0023821674
-
Ca2+-dependent phospholipid-(and membrane-) binding proteins
-
Klee CB. Ca2+-dependent phospholipid-(and membrane-) binding proteins. Biochemistry. 1988;27(18):6645-6653.
-
(1988)
Biochemistry
, vol.27
, Issue.18
, pp. 6645-6653
-
-
Klee, C.B.1
-
35
-
-
33845350971
-
Amphipathic helices as mediators of the membrane interaction of amphitropic proteins, and as modulators of bilayer physical properties
-
Cornell RB, Taneva SG. Amphipathic helices as mediators of the membrane interaction of amphitropic proteins, and as modulators of bilayer physical properties. Curr Protein Pept Sci. 2006;7(6):539-552.
-
(2006)
Curr Protein Pept Sci
, vol.7
, Issue.6
, pp. 539-552
-
-
Cornell, R.B.1
Taneva, S.G.2
-
36
-
-
0028027088
-
Domains of tau protein and interactions with microtubules
-
Gustke N, Trinczek B, Biernat J, Mandelkow EM, Mandelkow E. Domains of tau protein and interactions with microtubules. Biochemistry. 1994;33(32):9511-9522.
-
(1994)
Biochemistry
, vol.33
, Issue.32
, pp. 9511-9522
-
-
Gustke, N.1
Trinczek, B.2
Biernat, J.3
Mandelkow, E.M.4
Mandelkow, E.5
-
37
-
-
0034695259
-
15 A resolution model of the monomeric kinesin motor, KIF1A
-
Kikkawa M, Okada Y, Hirokawa N. 15 A resolution model of the monomeric kinesin motor, KIF1A. Cell. 2000;100(2):241-252.
-
(2000)
Cell
, vol.100
, Issue.2
, pp. 241-252
-
-
Kikkawa, M.1
Okada, Y.2
Hirokawa, N.3
-
38
-
-
79952578905
-
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: Generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
-
Cideciyan AV, et al. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet. 2011;20(7):1411-1423.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.7
, pp. 1411-1423
-
-
Cideciyan, A.V.1
-
39
-
-
84890369088
-
BBS mutations modify phenotypic expression of CEP290-related ciliopathies [published online ahead of print August 20
-
doi:10. 1093/hmg/ddt394
-
Zhang Y, et al. BBS mutations modify phenotypic expression of CEP290-related ciliopathies [published online ahead of print August 20, 2013]. Hum Mol Genet. doi:10. 1093/hmg/ddt394.
-
(2013)
Hum Mol Genet
-
-
Zhang, Y.1
-
40
-
-
4644326930
-
A microtubule-binding myosin required for nuclear anchoring and spindle assembly
-
Weber KL, Sokac AM, Berg JS, Cheney RE, Bement WM. A microtubule-binding myosin required for nuclear anchoring and spindle assembly. Nature. 2004;431(7006):325-329.
-
(2004)
Nature
, vol.431
, Issue.7006
, pp. 325-329
-
-
Weber, K.L.1
Sokac, A.M.2
Berg, J.S.3
Cheney, R.E.4
Bement, W.M.5
-
41
-
-
80053299693
-
Characterization of a myosin VII MyTH/FERM domain
-
Moen RJ, Johnsrud DO, Thomas DD, Titus MA. Characterization of a myosin VII MyTH/FERM domain. J Mol Biol. 2011;413(1):17-23.
-
(2011)
J Mol Biol
, vol.413
, Issue.1
, pp. 17-23
-
-
Moen, R.J.1
Johnsrud, D.O.2
Thomas, D.D.3
Titus, M.A.4
-
42
-
-
0032324482
-
Experimental model for studying the primary cilia in tissue culture cells
-
Alieva IB, Gorgidze LA, Komarova YA, Chernobelskaya OA, Vorobjev IA. Experimental model for studying the primary cilia in tissue culture cells. Membr Cell Biol. 1999;12(6):895-905.
-
(1999)
Membr Cell Biol
, vol.12
, Issue.6
, pp. 895-905
-
-
Alieva, I.B.1
Gorgidze, L.A.2
Komarova, Y.A.3
Chernobelskaya, O.A.4
Vorobjev, I.A.5
-
43
-
-
77954240714
-
SCF (Cyclin F) controls centrosome homeostasis and mitotic fidelity through CP110 degradation
-
D'Angiolella V, et al. SCF (Cyclin F) controls centrosome homeostasis and mitotic fidelity through CP110 degradation. Nature. 2010;466(7302):138-142.
-
(2010)
Nature
, vol.466
, Issue.7302
, pp. 138-142
-
-
D'Angiolella, V.1
-
44
-
-
0038136972
-
Structure of the active N-terminal domain of Ezrin. Conformational and mobility changes identify keystone interactions
-
Smith WJ, Nassar N, Bretscher A, Cerione RA, Karplus PA. Structure of the active N-terminal domain of Ezrin. Conformational and mobility changes identify keystone interactions. J Biol Chem. 2003;278(7):4949-4956.
-
(2003)
J Biol Chem
, vol.278
, Issue.7
, pp. 4949-4956
-
-
Smith, W.J.1
Nassar, N.2
Bretscher, A.3
Cerione, R.A.4
Karplus, P.A.5
-
45
-
-
84868550895
-
A novel membrane-dependent on/off switch mechanism of talin FERM domain at sites of cell adhesion
-
Song X, et al. A novel membrane-dependent on/off switch mechanism of talin FERM domain at sites of cell adhesion. Cell Res. 2012;22(11):1533-1545.
-
(2012)
Cell Res
, vol.22
, Issue.11
, pp. 1533-1545
-
-
Song, X.1
|