-
1
-
-
77951101203
-
The primary cilium: A signalling centre during vertebrate development
-
Goetz SC, Anderson KV (2010) The primary cilium: A signalling centre during vertebrate development. Nat Rev Genet 11(5):331-344.
-
(2010)
Nat Rev Genet
, vol.11
, Issue.5
, pp. 331-344
-
-
Goetz, S.C.1
Anderson, K.V.2
-
2
-
-
33746891890
-
The primary cilium as the cell's antenna: Signaling at a sensory organelle
-
Singla V, Reiter JF (2006) The primary cilium as the cell's antenna: Signaling at a sensory organelle. Science 313(5787):629-633.
-
(2006)
Science
, vol.313
, Issue.5787
, pp. 629-633
-
-
Singla, V.1
Reiter, J.F.2
-
3
-
-
79958087282
-
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies
-
Mockel A, et al. (2011) Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Prog Retin Eye Res 30(4):258-274.
-
(2011)
Prog Retin Eye Res
, vol.30
, Issue.4
, pp. 258-274
-
-
Mockel, A.1
-
4
-
-
84856030268
-
Scrutinizing ciliopathies by unraveling ciliary interaction networks
-
van Reeuwijk J, Arts HH, Roepman R (2011) Scrutinizing ciliopathies by unraveling ciliary interaction networks. Hum Mol Genet 20(R2):R149-R157.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.R2
-
-
Van Reeuwijk, J.1
Arts, H.H.2
Roepman, R.3
-
5
-
-
79955513961
-
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
-
Williams CL, 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(6):1023-1041.
-
(2011)
J Cell Biol
, vol.192
, Issue.6
, pp. 1023-1041
-
-
Williams, C.L.1
-
6
-
-
77956388187
-
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
-
Craige B, et al. (2010) CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J Cell Biol 190(5):927-940.
-
(2010)
J Cell Biol
, vol.190
, Issue.5
, pp. 927-940
-
-
Craige, B.1
-
7
-
-
79960900387
-
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
-
Garcia-Gonzalo FR, et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet 43(8):776-784.
-
(2011)
Nat Genet
, vol.43
, Issue.8
, pp. 776-784
-
-
Garcia-Gonzalo, F.R.1
-
8
-
-
79955808192
-
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
-
Sang L, et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145(4):513-528.
-
(2011)
Cell
, vol.145
, Issue.4
, pp. 513-528
-
-
Sang, L.1
-
9
-
-
84355161803
-
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
-
Chih B, et al. (2012) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol 14(1):61-72.
-
(2012)
Nat Cell Biol
, vol.14
, Issue.1
, pp. 61-72
-
-
Chih, B.1
-
10
-
-
69349094765
-
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
-
Bielas SL, et al. (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet 41(9):1032-1036.
-
(2009)
Nat Genet
, vol.41
, Issue.9
, pp. 1032-1036
-
-
Bielas, S.L.1
-
11
-
-
69349095810
-
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
-
Jacoby M, et al. (2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet 41(9):1027-1031.
-
(2009)
Nat Genet
, vol.41
, Issue.9
, pp. 1027-1031
-
-
Jacoby, M.1
-
12
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
Meindl A, et al. (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 13(1):35-42.
-
(1996)
Nat Genet
, vol.13
, Issue.1
, pp. 35-42
-
-
Meindl, A.1
-
13
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
Roepman R, et al. (1996) Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 5(7):1035-1041.
-
(1996)
Hum Mol Genet
, vol.5
, Issue.7
, pp. 1035-1041
-
-
Roepman, R.1
-
14
-
-
0028789921
-
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
-
Huang SH, et al. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet 11(4):468-471.
-
(1995)
Nat Genet
, vol.11
, Issue.4
, pp. 468-471
-
-
Huang, S.H.1
-
15
-
-
0027270053
-
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
-
McLaughlin ME, Sandberg MA, Berson EL, Dryja TP (1993) Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet 4(2):130-134.
-
(1993)
Nat Genet
, vol.4
, Issue.2
, pp. 130-134
-
-
McLaughlin, M.E.1
Sandberg, M.A.2
Berson, E.L.3
Dryja, T.P.4
-
16
-
-
0031038950
-
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
-
Yamamoto S, Sippel KC, Berson EL, Dryja TP (1997) Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 15(2):175-178.
-
(1997)
Nat Genet
, vol.15
, Issue.2
, pp. 175-178
-
-
Yamamoto, S.1
Sippel, K.C.2
Berson, E.L.3
Dryja, T.P.4
-
17
-
-
0033985972
-
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
-
Sohocki MM, et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 24(1):79-83.
-
(2000)
Nat Genet
, vol.24
, Issue.1
, pp. 79-83
-
-
Sohocki, M.M.1
-
18
-
-
79957771203
-
RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments
-
Christiansen JR, Kolandaivelu S, Bergo MO, Ramamurthy V (2011) RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments. Proc Natl Acad Sci USA 108(21):8862-8866.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, Issue.21
, pp. 8862-8866
-
-
Christiansen, J.R.1
Kolandaivelu, S.2
Bergo, M.O.3
Ramamurthy, V.4
-
19
-
-
59649128407
-
Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4
-
Mazelova J, et al. (2009) Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4. EMBO J 28(3):183-192.
-
(2009)
EMBO J
, vol.28
, Issue.3
, pp. 183-192
-
-
Mazelova, J.1
-
20
-
-
80052827000
-
A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1
-
Ward HH, et al. (2011) A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1. Mol Biol Cell 22(18):3289-3305.
-
(2011)
Mol Biol Cell
, vol.22
, Issue.18
, pp. 3289-3305
-
-
Ward, H.H.1
-
21
-
-
33646764178
-
Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif
-
Geng L, et al. (2006) Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif. J Cell Sci 119(Pt 7):1383-1395.
-
(2006)
J Cell Sci
, vol.119
, Issue.PART 7
, pp. 1383-1395
-
-
Geng, L.1
-
22
-
-
0347052881
-
Photoreceptor cGMP phosphodiesterase delta subunit (PDEdelta) functions as a prenyl-binding protein
-
Zhang H, et al. (2004) Photoreceptor cGMP phosphodiesterase delta subunit (PDEdelta) functions as a prenyl-binding protein. J Biol Chem 279(1):407-413.
-
(2004)
J Biol Chem
, vol.279
, Issue.1
, pp. 407-413
-
-
Zhang, H.1
-
23
-
-
81355127367
-
Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo
-
Ismail SA, et al. (2011) Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo. Nat Chem Biol 7(12):942-949.
-
(2011)
Nat Chem Biol
, vol.7
, Issue.12
, pp. 942-949
-
-
Ismail, S.A.1
-
24
-
-
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, 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(1):55-59.
-
(1999)
FEBS Lett
, vol.458
, Issue.1
, pp. 55-59
-
-
Linari, M.1
Hanzal-Bayer, M.2
Becker, J.3
-
25
-
-
81255195351
-
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium
-
Wright KJ, et al. (2011) An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes Dev 25(22):2347-2360.
-
(2011)
Genes Dev
, vol.25
, Issue.22
, pp. 2347-2360
-
-
Wright, K.J.1
-
26
-
-
48349109103
-
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
-
International Joubert Syndrome Related Disorders Study Group
-
Cantagrel V, et al.; International Joubert Syndrome Related Disorders Study Group (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 83(2):170-179.
-
(2008)
Am J Hum Genet
, vol.83
, Issue.2
, pp. 170-179
-
-
Cantagrel, V.1
-
27
-
-
34247558062
-
The graded response to Sonic Hedgehog depends on cilia architecture
-
Caspary T, Larkins CE, Anderson KV (2007) The graded response to Sonic Hedgehog depends on cilia architecture. Dev Cell 12(5):767-778.
-
(2007)
Dev Cell
, vol.12
, Issue.5
, pp. 767-778
-
-
Caspary, T.1
Larkins, C.E.2
Anderson, K.V.3
-
28
-
-
70450176073
-
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion
-
Duldulao NA, Lee S, Sun Z (2009) Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 136(23):4033-4042.
-
(2009)
Development
, vol.136
, Issue.23
, pp. 4033-4042
-
-
Duldulao, N.A.1
Lee, S.2
Sun, Z.3
-
29
-
-
77949716057
-
Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans
-
Cevik S, et al. (2010) Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. J Cell Biol 188(6):953-969.
-
(2010)
J Cell Biol
, vol.188
, Issue.6
, pp. 953-969
-
-
Cevik, S.1
-
30
-
-
77953565925
-
The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis
-
Li Y, Wei Q, Zhang Y, Ling K, Hu J (2010) The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis. J Cell Biol 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
-
31
-
-
45849096066
-
Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation
-
Hori Y, Kobayashi T, Kikko Y, Kontani K, Katada T (2008) Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation. Biochem Biophys Res Commun 373(1):119-124.
-
(2008)
Biochem Biophys Res Commun
, vol.373
, Issue.1
, pp. 119-124
-
-
Hori, Y.1
Kobayashi, T.2
Kikko, Y.3
Kontani, K.4
Katada, T.5
-
32
-
-
35548974826
-
Cep164, a novel centriole appendage protein required for primary cilium formation
-
Graser S, et al. (2007) Cep164, a novel centriole appendage protein required for primary cilium formation. J Cell Biol 179(2):321-330.
-
(2007)
J Cell Biol
, vol.179
, Issue.2
, pp. 321-330
-
-
Graser, S.1
-
33
-
-
81255160747
-
Assessing the localization of centrosomal proteins by PALM/STORM nanoscopy
-
Hoboken
-
Sillibourne JE, et al. (2011) Assessing the localization of centrosomal proteins by PALM/STORM nanoscopy. Cytoskeleton (Hoboken) 68(11):619-627.
-
(2011)
Cytoskeleton
, vol.68
, Issue.11
, pp. 619-627
-
-
Sillibourne, J.E.1
-
34
-
-
40349087260
-
Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1
-
Sivasubramaniam S, Sun X, Pan YR, Wang S, Lee EY (2008) Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. Genes Dev 22(5):587-600.
-
(2008)
Genes Dev
, vol.22
, Issue.5
, pp. 587-600
-
-
Sivasubramaniam, S.1
Sun, X.2
Pan, Y.R.3
Wang, S.4
Lee, E.Y.5
-
35
-
-
61449223621
-
UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity
-
Pan YR, Lee EY (2009) UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. Cell Cycle 8(4):655-664.
-
(2009)
Cell Cycle
, vol.8
, Issue.4
, pp. 655-664
-
-
Pan, Y.R.1
Lee, E.Y.2
-
36
-
-
84864584531
-
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
-
Chaki M, et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150(3):533-548.
-
(2012)
Cell
, vol.150
, Issue.3
, pp. 533-548
-
-
Chaki, M.1
-
37
-
-
34548429735
-
The proteome of the mouse photoreceptor sensory cilium complex
-
Liu Q, et al. (2007) The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics 6(8):1299-1317.
-
(2007)
Mol Cell Proteomics
, vol.6
, Issue.8
, pp. 1299-1317
-
-
Liu, Q.1
-
38
-
-
84863403706
-
Proteomic analysis of mammalian primary cilia
-
Ishikawa H, Thompson J, Yates JR, 3rd, Marshall WF (2012) Proteomic analysis of mammalian primary cilia. Curr Biol 22:414-419.
-
(2012)
Curr Biol
, vol.22
, pp. 414-419
-
-
Ishikawa, H.1
Thompson, J.2
Yates III, J.R.3
Marshall, W.F.4
-
39
-
-
4344659154
-
Polarity proteins control ciliogenesis via kinesin motor interactions
-
Fan S, et al. (2004) Polarity proteins control ciliogenesis via kinesin motor interactions. Curr Biol 14:1451-1461.
-
(2004)
Curr Biol
, vol.14
, pp. 1451-1461
-
-
Fan, S.1
-
40
-
-
33845307154
-
Identification of EPI64 as a GTPase-activating protein specific for Rab27A
-
Itoh T, Fukuda M (2006) Identification of EPI64 as a GTPase-activating protein specific for Rab27A. J Biol Chem 281(42):31823-31831.
-
(2006)
J Biol Chem
, vol.281
, Issue.42
, pp. 31823-31831
-
-
Itoh, T.1
Fukuda, M.2
-
41
-
-
77951183654
-
Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A-C
-
Hsu C, et al. (2010) Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A-C. J Cell Biol 189(2):223-232.
-
(2010)
J Cell Biol
, vol.189
, Issue.2
, pp. 223-232
-
-
Hsu, C.1
-
42
-
-
77954244487
-
Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-beta2 and RanGTP
-
Dishinger JF, et al. (2010) Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-beta2 and RanGTP. Nat Cell Biol 12(7):703-710.
-
(2010)
Nat Cell Biol
, vol.12
, Issue.7
, pp. 703-710
-
-
Dishinger, J.F.1
-
43
-
-
79952798372
-
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2
-
Hurd TW, Fan S, Margolis BL (2011) Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2. J Cell Sci 124(Pt 5):718-726.
-
(2011)
J Cell Sci
, vol.124
, Issue.PART 5
, pp. 718-726
-
-
Hurd, T.W.1
Fan, S.2
Margolis, B.L.3
-
44
-
-
78149259013
-
Primary cilia regulate mTORC1 activity and cell size through Lkb1
-
Boehlke C, et al. (2010) Primary cilia regulate mTORC1 activity and cell size through Lkb1. Nat Cell Biol 12(11):1115-1122.
-
(2010)
Nat Cell Biol
, vol.12
, Issue.11
, pp. 1115-1122
-
-
Boehlke, C.1
-
45
-
-
27144529532
-
PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts
-
Schneider L, et al. (2005) PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts. Curr Biol 15:1861-1866.
-
(2005)
Curr Biol
, vol.15
, pp. 1861-1866
-
-
Schneider, L.1
-
46
-
-
82755161774
-
Primary cilia and coordination of receptor tyrosine kinase (RTK) signalling
-
Christensen ST, Clement CA, Satir P, Pedersen LB (2012) Primary cilia and coordination of receptor tyrosine kinase (RTK) signalling. J Pathol 226(2):172-184.
-
(2012)
J Pathol
, vol.226
, Issue.2
, pp. 172-184
-
-
Christensen, S.T.1
Clement, C.A.2
Satir, P.3
Pedersen, L.B.4
-
47
-
-
0037191046
-
Assembly of centrosomal proteins and microtubule organization depends on PCM-1
-
Dammermann A, Merdes A (2002) Assembly of centrosomal proteins and microtubule organization depends on PCM-1. J Cell Biol 159(2):255-266.
-
(2002)
J Cell Biol
, vol.159
, Issue.2
, pp. 255-266
-
-
Dammermann, A.1
Merdes, A.2
-
48
-
-
79951829447
-
Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1
-
Lopes CA, et al. (2011) Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. J Cell Sci 124(Pt 4):600-612.
-
(2011)
J Cell Sci
, vol.124
, Issue.PART 4
, pp. 600-612
-
-
Lopes, C.A.1
-
49
-
-
81755177811
-
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened
-
Seo S, et al. (2011) A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet 7(11):e1002358.
-
(2011)
PLoS Genet
, vol.7
, Issue.11
-
-
Seo, S.1
-
50
-
-
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 (2008) CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet 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
-
51
-
-
77958021483
-
CCAAT/enhancer binding protein delta (C/EBPdelta, CEBPD)-mediated nuclear import of FANCD2 by IPO4 augments cellular response to DNA damage
-
Wang J, et al. (2010) CCAAT/enhancer binding protein delta (C/EBPdelta, CEBPD)-mediated nuclear import of FANCD2 by IPO4 augments cellular response to DNA damage. Proc Natl Acad Sci USA 107(37):16131-16136.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.37
, pp. 16131-16136
-
-
Wang, J.1
-
52
-
-
34249947699
-
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage
-
Matsuoka S, et al. (2007) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316(5828):1160-1166.
-
(2007)
Science
, vol.316
, Issue.5828
, pp. 1160-1166
-
-
Matsuoka, S.1
-
53
-
-
76549121983
-
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
-
Seo S, et al. (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci USA 107(4):1488-1493.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.4
, pp. 1488-1493
-
-
Seo, S.1
|