-
1
-
-
0035462382
-
Re-evaluating centrosome function
-
Doxsey S. Re-evaluating centrosome function. Nat Rev Mol Cell Biol. 2001;2:688–698.
-
(2001)
Nat Rev Mol Cell Biol
, vol.2
, pp. 688-698
-
-
Doxsey, S.1
-
2
-
-
49449101281
-
Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors
-
Insinna C, Besharse JC. Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors. Dev Dyn. 2008; 237:1982–1992.
-
(2008)
Dev Dyn
, vol.237
, pp. 1982-1992
-
-
Insinna, C.1
Besharse, J.C.2
-
3
-
-
59649128407
-
Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf 4
-
Mazelova J, Astuto-Gribble L, Inoue H, et al. Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf 4. EMBO J. 2009;28:183–192.
-
(2009)
EMBO J
, vol.28
, pp. 183-192
-
-
Mazelova, J.1
Astuto-Gribble, L.2
Inoue, H.3
-
4
-
-
77953895859
-
Trafficking to the ciliary membrane: How to get across the periciliary diffusion barrier?
-
Nachury MV, Seeley ES, Jin H. Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? Annu Rev Cell Dev Biol. 2010;26:59–87.
-
(2010)
Annu Rev Cell Dev Biol
, vol.26
, pp. 59-87
-
-
Nachury, M.V.1
Seeley, E.S.2
Jin, H.3
-
5
-
-
70350771277
-
Centrioles, centrosomes, and cilia in health and disease
-
Nigg EA, Raff JW. Centrioles, centrosomes, and cilia in health and disease. Cell. 2009;139:663–678.
-
(2009)
Cell
, vol.139
, pp. 663-678
-
-
Nigg, E.A.1
Raff, J.W.2
-
6
-
-
80053531148
-
Modeling human disease in humans: The ciliopathies
-
Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell. 2011;147:70–79.
-
(2011)
Cell
, vol.147
, pp. 70-79
-
-
Novarino, G.1
Akizu, N.2
Gleeson, J.G.3
-
7
-
-
0348162558
-
Photoreceptor intersegmental transport and retinal degeneration: A conserved pathway common to motile and sensory cilia
-
Besharse JC, Baker SA, Luby-Phelps K, Pazour GJ. Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia. Adv Exp Med Biol. 2003;533:157–164.
-
(2003)
Adv Exp Med Biol
, vol.533
, pp. 157-164
-
-
Besharse, J.C.1
Baker, S.A.2
Luby-Phelps, K.3
Pazour, G.J.4
-
8
-
-
34548429735
-
The proteome of the mouse photoreceptor sensory cilium complex
-
Liu Q, Tan G, Levenkova N, et al. The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics. 2007;6:1299–1317.
-
(2007)
Mol Cell Proteomics
, vol.6
, pp. 1299-1317
-
-
Liu, Q.1
Tan, G.2
Levenkova, N.3
-
9
-
-
79959600015
-
Multiprotein complexes of retinitis pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in x-linked retinitis pigmentosa (XLRP)
-
Murga-Zamalloa C, Swaroop A, Khanna H. Multiprotein complexes of retinitis pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in x-linked retinitis pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105–114.
-
(2010)
Adv Exp Med Biol
, vol.664
, pp. 105-114
-
-
Murga-Zamalloa, C.1
Swaroop, A.2
Khanna, H.3
-
10
-
-
84871730850
-
Ciliary signaling cascades in photoreceptors
-
Yildiz O, Khanna H. Ciliary signaling cascades in photoreceptors. Vision Res. 2012;75:112–116.
-
(2012)
Vision Res
, vol.75
, pp. 112-116
-
-
Yildiz, O.1
Khanna, H.2
-
11
-
-
0017223931
-
Renewal of normal and degenerating photoreceptor outer segments in the Ozark cave salamander
-
Besharse JC, Hollyfield JG. Renewal of normal and degenerating photoreceptor outer segments in the Ozark cave salamander. J Exp Zool. 1976;198:287–302.
-
(1976)
J Exp Zool
, vol.198
, pp. 287-302
-
-
Besharse, J.C.1
Hollyfield, J.G.2
-
12
-
-
0017599008
-
Photoreceptor outer segments: Accelerated membrane renewal in rods after exposure to light
-
Besharse JC, Hollyfield JG, Rayborn ME. Photoreceptor outer segments: accelerated membrane renewal in rods after exposure to light. Science. 1977;196:536–538.
-
(1977)
Science
, vol.196
, pp. 536-538
-
-
Besharse, J.C.1
Hollyfield, J.G.2
Rayborn, M.E.3
-
13
-
-
0032168064
-
Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA
-
Deretic D, Schmerl S, Hargrave PA, Arendt A, McDowell JH. Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA. Proc Natl Acad Sci U S A. 1998;95:10620–10625.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 10620-10625
-
-
Deretic, D.1
Schmerl, S.2
Hargrave, P.A.3
Arendt, A.4
McDowell, J.H.5
-
14
-
-
84879610890
-
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration
-
Li L, Khan N, Hurd T, et al. Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2013;54:4503–4511.
-
(2013)
Invest Ophthalmol Vis Sci
, vol.54
, pp. 4503-4511
-
-
Li, L.1
Khan, N.2
Hurd, T.3
-
15
-
-
0014292478
-
Passage of newly formed protein through the connecting cilium of retina rods in the frog
-
Young RW. Passage of newly formed protein through the connecting cilium of retina rods in the frog. J Ultrastruct Res. 1968;23:462–473.
-
(1968)
J Ultrastruct Res
, vol.23
, pp. 462-473
-
-
Young, R.W.1
-
16
-
-
84861317543
-
Ciliary transition zone (TZ) proteins RPGR and CEP290: Role in photoreceptor cilia and degenerative diseases
-
Anand M, Khanna H. Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases. Exp Opin Ther Tar. 2012;16:541–551.
-
(2012)
Exp Opin Ther Tar
, vol.16
, pp. 541-551
-
-
Anand, M.1
Khanna, H.2
-
17
-
-
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;17:3796–3805.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3796-3805
-
-
Kim, J.1
Krishnaswami, S.R.2
Gleeson, J.G.3
-
18
-
-
80051511867
-
Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies
-
Murga-Zamalloa CA, Ghosh AK, Patil SB, et al. Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies. J Biol Chem. 2011;286:28276–28286.
-
(2011)
J Biol Chem
, vol.286
, pp. 28276-28286
-
-
Murga-Zamalloa, C.A.1
Ghosh, A.K.2
Patil, S.B.3
-
19
-
-
48549102438
-
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease
-
Tsang WY, Bossard C, Khanna H, et al. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell. 2008;15: 187–197.
-
(2008)
Dev Cell
, vol.15
, pp. 187-197
-
-
Tsang, W.Y.1
Bossard, C.2
Khanna, H.3
-
20
-
-
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, Khanna H, Hawes N, 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: 1847–1857.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
-
21
-
-
77956388187
-
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
-
Craige B, Tsao CC, Diener DR, et al. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J Cell Biol. 2010;190:927–940.
-
(2010)
J Cell Biol
, vol.190
, pp. 927-940
-
-
Craige, B.1
Tsao, C.C.2
Diener, D.R.3
-
22
-
-
84859731666
-
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
-
Rachel RA, May-Simera HL, Veleri S, et al. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest. 2012;122:1233–1245.
-
(2012)
J Clin Invest
, vol.122
, pp. 1233-1245
-
-
Rachel, R.A.1
May-Simera, H.L.2
Veleri, S.3
-
23
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
-
den Hollander AI, Koenekoop RK, Yzer S, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006;79:556–561.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 556-561
-
-
Den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
-
24
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27:391–419.
-
(2008)
Prog Retin Eye Res
, vol.27
, pp. 391-419
-
-
Den Hollander, A.I.1
Roepman, R.2
Koenekoop, R.K.3
Cremers, F.P.4
-
25
-
-
84867112903
-
Non-syndromic retinal ciliopathies: Translating gene discovery into therapy
-
Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA. Non-syndromic retinal ciliopathies: translating gene discovery into therapy. Hum Mol Genet. 2012;21:R111–R124.
-
(2012)
Hum Mol Genet
, vol.21
, pp. R111-R124
-
-
Estrada-Cuzcano, A.1
Roepman, R.2
Cremers, F.P.3
Den Hollander, A.I.4
Mans, D.A.5
-
26
-
-
3042651223
-
An overview of Leber congenital amaurosis: A model to understand human retinal development
-
Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol. 2004;49:379–398.
-
(2004)
Surv Ophthalmol
, vol.49
, pp. 379-398
-
-
Koenekoop, R.K.1
-
28
-
-
34548356698
-
Mutation in CEP290 discovered for cat model of human retinal degeneration
-
Menotti-Raymond M, David VA, Schaffer AA, et al. Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered. 2007;98:211–220.
-
(2007)
J Hered
, vol.98
, pp. 211-220
-
-
Menotti-Raymond, M.1
David, V.A.2
Schaffer, A.A.3
-
29
-
-
33846846675
-
Raf kinase inhibitory protein knockout mice: expression in the brain and olfaction deficit
-
Theroux S, Pereira M, Casten KS, et al. Raf kinase inhibitory protein knockout mice: expression in the brain and olfaction deficit. Brain Res Bull. 2007;71:559–567.
-
(2007)
Brain Res Bull
, vol.71
, pp. 559-567
-
-
Theroux, S.1
Pereira, M.2
Casten, K.S.3
-
30
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001;28:92–95.
-
(2001)
Nat Genet
, vol.28
, pp. 92-95
-
-
Acland, G.M.1
Aguirre, G.D.2
Ray, J.3
-
31
-
-
70349105559
-
Human RPE65 gene therapy for Leber congenital amaurosis: Persistence of early visual improvements and safety at 1 year
-
Cideciyan AV, Hauswirth WW, Aleman TS, et al. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther. 2009;20:999–1004.
-
(2009)
Hum Gene Ther
, vol.20
, pp. 999-1004
-
-
Cideciyan, A.V.1
Hauswirth, W.W.2
Aleman, T.S.3
-
32
-
-
70350620424
-
Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: A phase 1 dose-escalation trial
-
Maguire AM, High KA, Auricchio A, et al. Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009;374:1597–1605.
-
(2009)
Lancet
, vol.374
, pp. 1597-1605
-
-
Maguire, A.M.1
High, K.A.2
Auricchio, A.3
-
33
-
-
77955332214
-
Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis
-
Pawlyk BS, Bulgakov OV, Liu X, et al. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Hum Gene Ther. 2010;21:993–1004.
-
(2010)
Hum Gene Ther
, vol.21
, pp. 993-1004
-
-
Pawlyk, B.S.1
Bulgakov, O.V.2
Liu, X.3
-
34
-
-
84867129125
-
Antisense oligonucleotide (AON)-based therapy for Leber Congenital Amaurosis caused by a frequent mutation in CEP 290
-
Collin RW, den Hollander AI, van der Velde-Visser SD, Bennicelli J, Bennett J, Cremers FP. Antisense oligonucleotide (AON)-based therapy for Leber Congenital Amaurosis caused by a frequent mutation in CEP 290. Mol Ther Nucleic Acids. 2012;1:e14.
-
(2012)
Mol Ther Nucleic Acids
, vol.1
, pp. e14
-
-
Collin, R.W.1
Den Hollander, A.I.2
van der Velde-Visser, S.D.3
Bennicelli, J.4
Bennett, J.5
Cremers, F.P.6
-
35
-
-
84890369088
-
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
-
Zhang Y, Seo S, Bhattarai S, et al. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet. 2014;23:40–51.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 40-51
-
-
Zhang, Y.1
Seo, S.2
Bhattarai, S.3
-
37
-
-
35648970061
-
Centrosomalciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis
-
Cideciyan AV, Aleman TS, Jacobson SG, et al. Centrosomalciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat. 2007;28:1074–1083.
-
(2007)
Hum Mutat
, vol.28
, pp. 1074-1083
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Jacobson, S.G.3
-
38
-
-
84879131073
-
Gene methylation in gastric cancer
-
Qu Y, Dang S, Hou P. Gene methylation in gastric cancer. Clin Chim Acta. 2013;424:53–65.
-
(2013)
Clin Chim Acta
, vol.424
, pp. 53-65
-
-
Qu, Y.1
Dang, S.2
Hou, P.3
-
39
-
-
35648985644
-
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
-
Gerdes JM, Liu Y, Zaghloul NA, et al. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet. 2007;39:1350–1360.
-
(2007)
Nat Genet
, vol.39
, pp. 1350-1360
-
-
Gerdes, J.M.1
Liu, Y.2
Zaghloul, N.A.3
-
40
-
-
84899758669
-
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators
-
Liu YP, Tsai IC, Morleo M, et al. Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest. 2014;124:2059–2070.
-
(2014)
J Clin Invest
, vol.124
, pp. 2059-2070
-
-
Liu, Y.P.1
Tsai, I.C.2
Morleo, M.3
-
41
-
-
84878999228
-
Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration
-
Lobanova ES, Finkelstein S, Skiba NP, Arshavsky VY. Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration. Proc Natl Acad Sci U S A. 2013; 110:9986–9991.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 9986-9991
-
-
Lobanova, E.S.1
Finkelstein, S.2
Skiba, N.P.3
Arshavsky, V.Y.4
-
42
-
-
0038825621
-
GRK1- dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina
-
Zhu X, Brown B, Li A, Mears AJ, Swaroop A, Craft CM. GRK1- dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina. J Neurosci. 2003;23:6152–6160.
-
(2003)
J Neurosci
, vol.23
, pp. 6152-6160
-
-
Zhu, X.1
Brown, B.2
Li, A.3
Mears, A.J.4
Swaroop, A.5
Craft, C.M.6
|