-
1
-
-
0035775666
-
Usher syndrome: from genetics to pathogenesis
-
Petit, C. (2001) Usher syndrome: from genetics to pathogenesis. Annu. Rev. Genomics Hum. Genet., 2, 271-297.
-
(2001)
Annu. Rev. Genomics Hum. Genet.
, vol.2
, pp. 271-297
-
-
Petit, C.1
-
2
-
-
33749019339
-
Usher syndrome: molecular links of pathogenesis, proteins and pathways
-
Kremer, H., van, W.E., Marker, T., Wolfrum, U. and Roepman, R. (2006) Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum. Mol. Genet., 15, R262-R270.
-
(2006)
Hum. Mol. Genet.
, vol.15
-
-
Kremer, H.1
van, W.E.2
Marker, T.3
Wolfrum, U.4
Roepman, R.5
-
3
-
-
33646856845
-
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
-
Reiners, J., Nagel-Wolfrum, K., Jürgens, K., Märker, T. and Wolfrum, U. (2006) Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp. Eye Res., 83, 97-119.
-
(2006)
Exp. Eye Res.
, vol.83
, pp. 97-119
-
-
Reiners, J.1
Nagel-Wolfrum, K.2
Jürgens, K.3
Märker, T.4
Wolfrum, U.5
-
4
-
-
84891979906
-
Protein networks related to the Usher syndrome gain insights in the molecular basis of the disease
-
In Satpal, A. (ed), Nova Science Publishers, New York
-
Wolfrum, U. (2011) Protein networks related to the Usher syndrome gain insights in the molecular basis of the disease. In Satpal, A. (ed), Usher syndrome: pathogenesis, diagnosis and therapy. Nova Science Publishers, New York, pp. 51-73.
-
(2011)
Usher syndrome: pathogenesis, diagnosis and therapy
, pp. 51-73
-
-
Wolfrum, U.1
-
6
-
-
60549091982
-
Update on Usher syndrome
-
Saihan, Z., Webster, A.R., Luxon, L. and Bitner-Glindzicz, M. (2009) Update on Usher syndrome. Curr. Opin. Neurol., 22, 19-27.
-
(2009)
Curr. Opin. Neurol.
, vol.22
, pp. 19-27
-
-
Saihan, Z.1
Webster, A.R.2
Luxon, L.3
Bitner-Glindzicz, M.4
-
7
-
-
77749239813
-
The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins
-
Yan, J., Pan, L., Chen, X., Wu, L. and Zhang, M. (2010) The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc. Natl. Acad. Sci. USA, 107, 4040-4045.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 4040-4045
-
-
Yan, J.1
Pan, L.2
Chen, X.3
Wu, L.4
Zhang, M.5
-
8
-
-
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., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E.J., Kremer, H. and Wolfrum, U. (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.4
McGee, J.5
Goldmann, T.6
Sehn, E.7
Roepman, R.8
Walsh, E.J.9
Kremer, H.10
Wolfrum, U.11
-
9
-
-
38749143961
-
SANS (USH1G) expression in developing and mature mammalian retina
-
Overlack, N., Maerker, T., Latz, M., Nagel-Wolfrum, K. and Wolfrum, U. (2008) SANS (USH1G) expression in developing and mature mammalian retina. Vision Res., 48, 400-412.
-
(2008)
Vision Res.
, vol.48
, pp. 400-412
-
-
Overlack, N.1
Maerker, T.2
Latz, M.3
Nagel-Wolfrum, K.4
Wolfrum, U.5
-
10
-
-
57649205375
-
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
-
van Wijk, E., Kersten, F.F., Kartono, A., Mans, D.A., Brandwijk, K., Letteboer, S.J., Peters, T.A., Marker, T., Yan, X., Cremers, C.W.et al. (2009) Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.Hum.Mol. Genet., 18, 51-64.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 51-64
-
-
van Wijk, E.1
Kersten, F.F.2
Kartono, A.3
Mans, D.A.4
Brandwijk, K.5
Letteboer, S.J.6
Peters, T.A.7
Marker, T.8
Yan, X.9
Cremers C.W.et, al.10
-
11
-
-
77953213409
-
Ablation of whirlin long isoform disrupts theUSH2protein complexand causes vision and hearing loss
-
Yang, J., Liu, X., Zhao, Y., Adamian, M., Pawlyk, B., Sun, X., McMillan, D.R., Liberman, M.C. and Li, T. (2010) Ablation of whirlin long isoform disrupts theUSH2protein complexand causes vision and hearing loss. PLoS. Genet., 6, e1000955.
-
(2010)
PLoS. Genet.
, vol.6
-
-
Yang, J.1
Liu, X.2
Zhao, Y.3
Adamian, M.4
Pawlyk, B.5
Sun, X.6
McMillan, D.R.7
Liberman, M.C.8
Li, T.9
-
12
-
-
79956020619
-
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors
-
Zou, J., Luo, L., Shen, Z., Chiodo, V.A., Ambati, B.K., Hauswirth,W.W.and Yang, J. (2011) Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest. Ophthalmol. Vis. Sci., 52, 2343-2351.
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 2343-2351
-
-
Zou, J.1
Luo, L.2
Shen, Z.3
Chiodo, V.A.4
Ambati, B.K.5
Hauswirth, W.W.6
Yang, J.7
-
13
-
-
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
-
14
-
-
77952407399
-
The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia
-
Molla-Herman, A., Ghossoub, R., Blisnick, T., Meunier, A., Serres, C., Silbermann, F., Emmerson, C., Romeo, K., Bourdoncle, P., Schmitt, A. et al. (2010) The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia. J. Cell Sci., 123, 1785-1795.
-
(2010)
J. Cell Sci.
, vol.123
, pp. 1785-1795
-
-
Molla-Herman, A.1
Ghossoub, R.2
Blisnick, T.3
Meunier, A.4
Serres, C.5
Silbermann, F.6
Emmerson, C.7
Romeo, K.8
Bourdoncle, P.9
Schmitt, A.10
-
15
-
-
79551712329
-
The ciliary pocket: a once-forgotten membrane domain at the base of cilia
-
Ghossoub, R., Molla-Herman, A., Bastin, P. and Benmerah, A. (2011) The ciliary pocket: a once-forgotten membrane domain at the base of cilia. Biol. Cell, 103, 131-144.
-
(2011)
Biol. Cell
, vol.103
, pp. 131-144
-
-
Ghossoub, R.1
Molla-Herman, A.2
Bastin, P.3
Benmerah, A.4
-
16
-
-
33144483550
-
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
-
van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., te, B.H., Kersten, F.F., Marker, T., Aller, E., Hoefsloot, L.H., Cremers, C.W. et al. (2006) The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet., 15, 751-765.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 751-765
-
-
van Wijk, E.1
van der Zwaag, B.2
Peters, T.3
Zimmermann, U.4
Te, B.H.5
Kersten, F.F.6
Marker, T.7
Aller, E.8
Hoefsloot, L.H.9
Cremers, C.W.10
-
17
-
-
0037341463
-
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
-
Weil, D., El Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Zina, Z.B. et al. (2003) Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum. Mol. Genet., 12, 463-471.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 463-471
-
-
Weil, D.1
El Amraoui, A.2
Masmoudi, S.3
Mustapha, M.4
Kikkawa, Y.5
Laine, S.6
Delmaghani, S.7
Adato, A.8
Nadifi, S.9
Zina, Z.B.10
-
18
-
-
29644441618
-
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
-
Adato, A., Lefevre, G., Delprat, B., Michel, V., Michalski, N., Chardenoux, S., Weil, D., El Amraoui, A. and Petit, C. (2005) Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum. Mol. Genet., 14, 3921-3932.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3921-3932
-
-
Adato, A.1
Lefevre, G.2
Delprat, B.3
Michel, V.4
Michalski, N.5
Chardenoux, S.6
Weil, D.7
El Amraoui, A.8
Petit, C.9
-
19
-
-
81155161016
-
Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina
-
Overlack, N., Kilic, D., Bauss, K., Marker, T., Kremer, H., van Wijk, E. and Wolfrum, U. (2011) Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina. Biochim. Biophys. Acta, 1813, 1883-1892.
-
(2011)
Biochim. Biophys. Acta
, vol.1813
, pp. 1883-1892
-
-
Overlack, N.1
Kilic, D.2
Bauss, K.3
Marker, T.4
Kremer, H.5
van Wijk, E.6
Wolfrum, U.7
-
20
-
-
33745746900
-
CIN85 is localized at synapses and forms a complex with S-SCAM via dendrin
-
Kawata, A., Iida, J., Ikeda, M., Sato, Y., Mori, H., Kansaku, A., Sumita, K., Fujiwara, N., Rokukawa, C., Hamano, M. et al. (2006) CIN85 is localized at synapses and forms a complex with S-SCAM via dendrin. J. Biochem., 139, 931-939.
-
(2006)
J. Biochem.
, vol.139
, pp. 931-939
-
-
Kawata, A.1
Iida, J.2
Ikeda, M.3
Sato, Y.4
Mori, H.5
Kansaku, A.6
Sumita, K.7
Fujiwara, N.8
Rokukawa, C.9
Hamano, M.10
-
21
-
-
77949357099
-
Synaptic localization and function of Sidekick recognition molecules require MAGI scaffolding proteins
-
Yamagata, M. and Sanes, J.R. (2010) Synaptic localization and function of Sidekick recognition molecules require MAGI scaffolding proteins. J. Neurosci., 30, 3579-3588.
-
(2010)
J. Neurosci.
, vol.30
, pp. 3579-3588
-
-
Yamagata, M.1
Sanes, J.R.2
-
22
-
-
0032516885
-
A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins
-
Hirao, K., Hata, Y., Ide, N., Takeuchi, M., Irie, M., Yao, I., Deguchi, M., Toyoda, A., Sudhof, T.C. and Takai, Y. (1998) A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins. J. Biol. Chem., 273, 21105-21110.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 21105-21110
-
-
Hirao, K.1
Hata, Y.2
Ide, N.3
Takeuchi, M.4
Irie, M.5
Yao, I.6
Deguchi, M.7
Toyoda, A.8
Sudhof, T.C.9
Takai, Y.10
-
23
-
-
0035798618
-
beta 1-adrenergic receptor association with the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 (MAGI-2). Differential regulation of receptor internalization by MAGI-2 and PSD-95
-
Xu, J., Paquet, M., Lau, A.G., Wood, J.D., Ross, C.A. and Hall, R.A. (2001) beta 1-adrenergic receptor association with the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 (MAGI-2). Differential regulation of receptor internalization by MAGI-2 and PSD-95. J. Biol. Chem., 276, 41310-41317.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 41310-41317
-
-
Xu, J.1
Paquet, M.2
Lau, A.G.3
Wood, J.D.4
Ross, C.A.5
Hall, R.A.6
-
24
-
-
0037458274
-
PKC regulates the delta2 glutamate receptor interaction with S-SCAM/MAGI-2 protein
-
Yap, C.C., Muto, Y., Kishida, H., Hashikawa, T. and Yano, R. (2003) PKC regulates the delta2 glutamate receptor interaction with S-SCAM/MAGI-2 protein. Biochem. Biophys. Res. Commun., 301, 1122-1128.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.301
, pp. 1122-1128
-
-
Yap, C.C.1
Muto, Y.2
Kishida, H.3
Hashikawa, T.4
Yano, R.5
-
25
-
-
84861121293
-
S-SCAM/MAGI-2 is an essential synaptic scaffolding molecule for the GluA2-containing maintenance pool of AMPA receptors
-
Danielson, E., Zhang, N., Metallo, J., Kaleka, K., Shin, S.M., Gerges, N. and Lee, S.H. (2012) S-SCAM/MAGI-2 is an essential synaptic scaffolding molecule for the GluA2-containing maintenance pool of AMPA receptors. J. Neurosci., 32, 6967-6980.
-
(2012)
J. Neurosci.
, vol.32
, pp. 6967-6980
-
-
Danielson, E.1
Zhang, N.2
Metallo, J.3
Kaleka, K.4
Shin, S.M.5
Gerges, N.6
Lee, S.H.7
-
26
-
-
80051631299
-
Four-year follow-up of diagnostic service in USH1 patients
-
Roux, A.F., Faugere, V., Vache, C., Baux, D., Besnard, T., Leonard, S., Blanchet, C., Hamel, C., Mondain, M., Gilbert-Dussardier, B. et al. (2011) Four-year follow-up of diagnostic service in USH1 patients. Invest. Ophthalmol. Vis. Sci., 52, 4063-4071.
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 4063-4071
-
-
Roux, A.F.1
Faugere, V.2
Vache, C.3
Baux, D.4
Besnard, T.5
Leonard, S.6
Blanchet, C.7
Hamel, C.8
Mondain, M.9
Gilbert-Dussardier, B.10
-
27
-
-
0036556270
-
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25
-
Mustapha, M., Chouery, E., Torchard-Pagnez, D., Nouaille, S., Khrais, A., Sayegh, F.N., Megarbane, A., Loiselet, J., Lathrop, M., Petit, C. and Weil, D. (2002) A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum. Genet., 110, 348-350.
-
(2002)
Hum. Genet.
, vol.110
, pp. 348-350
-
-
Mustapha, M.1
Chouery, E.2
Torchard-Pagnez, D.3
Nouaille, S.4
Khrais, A.5
Sayegh, F.N.6
Megarbane, A.7
Loiselet, J.8
Lathrop, M.9
Petit, C.10
Weil, D.11
-
28
-
-
28544450594
-
A novel D458 V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
-
Kalay, E., de Brouwer, A.P., Caylan, R., Nabuurs, S.B., Wollnik, B., Karaguzel, A., Heister, J.G., Erdol, H., Cremers, F.P., Cremers, C.W. et al. (2005) A novel D458 V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J. Mol. Med., 83, 1025-1032.
-
(2005)
J. Mol. Med.
, vol.83
, pp. 1025-1032
-
-
Kalay, E.1
de Brouwer, A.P.2
Caylan, R.3
Nabuurs, S.B.4
Wollnik, B.5
Karaguzel, A.6
Heister, J.G.7
Erdol, H.8
Cremers, F.P.9
Cremers, C.W.10
-
29
-
-
14044278263
-
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
-
Ouyang, X.M., Yan, D., Du, L.L., Hejtmancik, J.F., Jacobson, S.G., Nance, W.E., Li, A.R., Angeli, S., Kaiser, M., Newton, V. et al. (2005) Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum. Genet., 116, 292-299.
-
(2005)
Hum. Genet.
, vol.116
, pp. 292-299
-
-
Ouyang, X.M.1
Yan, D.2
Du, L.L.3
Hejtmancik, J.F.4
Jacobson, S.G.5
Nance, W.E.6
Li, A.R.7
Angeli, S.8
Kaiser, M.9
Newton, V.10
-
30
-
-
78149266656
-
A frameshift mutation in SANS results in atypical Usher syndrome
-
Bashir, R., Fatima, A. and Naz, S. (2010) A frameshift mutation in SANS results in atypical Usher syndrome. Clin. Genet., 78, 601-603.
-
(2010)
Clin. Genet.
, vol.78
, pp. 601-603
-
-
Bashir, R.1
Fatima, A.2
Naz, S.3
-
31
-
-
79955761322
-
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
-
Bonnet, C., Grati, M., Marlin, S., Levilliers, J., Hardelin, J.P., Parodi, M., Niasme-Grare, M., Zelenika, D., Delepine, M., Feldmann, D. et al. (2011) Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet. J. Rare Dis., 6, 21.
-
(2011)
Orphanet. J. Rare Dis.
, vol.6
, pp. 21
-
-
Bonnet, C.1
Grati, M.2
Marlin, S.3
Levilliers, J.4
Hardelin, J.P.5
Parodi, M.6
Niasme-Grare, M.7
Zelenika, D.8
Delepine, M.9
Feldmann, D.10
-
32
-
-
84856162108
-
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
-
Rizel, L., Safieh, C., Shalev, S.A., Mezer, E., Jabaly-Habib, H., Ben Neriah, Z., Chervinsky, E., Briscoe, D. and Ben Yosef, T. (2011) Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Mol. Vis., 17, 3548-3555.
-
(2011)
Mol. Vis.
, vol.17
, pp. 3548-3555
-
-
Rizel, L.1
Safieh, C.2
Shalev, S.A.3
Mezer, E.4
Jabaly-Habib, H.5
Ben Neriah, Z.6
Chervinsky, E.7
Briscoe, D.8
Ben Yosef, T.9
-
33
-
-
84865829122
-
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis
-
Imtiaz, F., Taibah, K., Bin-Khamis, G., Kennedy, S., Hemidan, A., Al Qahtani, F., Tabbara, K., Al Mubarak, B., Ramzan, K., Meyer, B.F. and Al Owain, M. (2012) USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis. Mol. Vis., 18, 1885-1894.
-
(2012)
Mol. Vis.
, vol.18
, pp. 1885-1894
-
-
Imtiaz, F.1
Taibah, K.2
Bin-Khamis, G.3
Kennedy, S.4
Hemidan, A.5
Al Qahtani, F.6
Tabbara, K.7
Al Mubarak, B.8
Ramzan, K.9
Meyer, B.F.10
Al Owain, M.11
-
34
-
-
3142748248
-
Synaptic scaffolding molecule interacts with axin
-
Hirabayashi, S., Nishimura, W., Iida, J., Kansaku, A., Kishida, S., Kikuchi, A., Tanaka, N. and Hata, Y. (2004) Synaptic scaffolding molecule interacts with axin. J. Neurochem., 90, 332-339.
-
(2004)
J. Neurochem.
, vol.90
, pp. 332-339
-
-
Hirabayashi, S.1
Nishimura, W.2
Iida, J.3
Kansaku, A.4
Kishida, S.5
Kikuchi, A.6
Tanaka, N.7
Hata, Y.8
-
35
-
-
42049105550
-
AIP1 recruits phosphatase PP2A to ASK1in tumor necrosis factor-induced ASK1-JNK activation
-
Min, W., Lin, Y., Tang, S., Yu, L., Zhang, H., Wan, T., Luhn, T., Fu, H. and Chen, H. (2008) AIP1 recruits phosphatase PP2A to ASK1in tumor necrosis factor-induced ASK1-JNK activation. Circ. Res., 102, 840-848.
-
(2008)
Circ. Res.
, vol.102
, pp. 840-848
-
-
Min, W.1
Lin, Y.2
Tang, S.3
Yu, L.4
Zhang, H.5
Wan, T.6
Luhn, T.7
Fu, H.8
Chen, H.9
-
36
-
-
43549117287
-
Light-dependentCK2-mediated phosphorylation of centrins regulates complex formation with visual G-protein
-
Trojan, P., Rausch, S., Giessl, A., Klemm, C., Krause, E., Pulvermuller, A. and Wolfrum, U. (2008) Light-dependentCK2-mediated phosphorylation of centrins regulates complex formation with visual G-protein. Biochim. Biophys. Acta, 1783, 1248-1260.
-
(2008)
Biochim. Biophys. Acta
, vol.1783
, pp. 1248-1260
-
-
Trojan, P.1
Rausch, S.2
Giessl, A.3
Klemm, C.4
Krause, E.5
Pulvermuller, A.6
Wolfrum, U.7
-
37
-
-
33747069994
-
Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain
-
Deng, F., Price, M.G., Davis, C.F., Mori, M. and Burgess, D.L. (2006) Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain. J. Neurosci., 26, 7875-7884.
-
(2006)
J. Neurosci.
, vol.26
, pp. 7875-7884
-
-
Deng, F.1
Price, M.G.2
Davis, C.F.3
Mori, M.4
Burgess, D.L.5
-
38
-
-
80155141553
-
Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms
-
Paciorkowski, A.R., Shafrir, Y., Hrivnak, J., Patterson, M.C., Tennison, M.B., Clark, H.B. and Gomez, C.M. (2011) Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology, 77, 1055-1060.
-
(2011)
Neurology
, vol.77
, pp. 1055-1060
-
-
Paciorkowski, A.R.1
Shafrir, Y.2
Hrivnak, J.3
Patterson, M.C.4
Tennison, M.B.5
Clark, H.B.6
Gomez, C.M.7
-
39
-
-
45549100234
-
Use of dynasore, the small molecule inhibitor of dynamin, in the regulation of endocytosis
-
Kirchhausen, T., Macia, E. and Pelish, H.E. (2008) Use of dynasore, the small molecule inhibitor of dynamin, in the regulation of endocytosis. Methods Enzymol., 438, 77-93.
-
(2008)
Methods Enzymol.
, vol.438
, pp. 77-93
-
-
Kirchhausen, T.1
Macia, E.2
Pelish, H.E.3
-
40
-
-
77951128108
-
Functional genomic screen for modulators of ciliogenesis and cilium length
-
Kim, J., Lee, J.E., Heynen-Genel, S., Suyama, E., Ono, K., Lee, K., Ideker, T., Aza-Blanc, P. and Gleeson, J.G. (2010) Functional genomic screen for modulators of ciliogenesis and cilium length. Nature, 464, 1048-1051.
-
(2010)
Nature
, vol.464
, pp. 1048-1051
-
-
Kim, J.1
Lee, J.E.2
Heynen-Genel, S.3
Suyama, E.4
Ono, K.5
Lee, K.6
Ideker, T.7
Aza-Blanc, P.8
Gleeson, J.G.9
-
41
-
-
77953895859
-
Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?
-
Nachury, M.V., Seeley, E.S. and Jin, H. (2010) Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? Annu. Rev. Cell Dev. Biol., 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
-
42
-
-
79958076359
-
Evolutionarily conserved bias of amino-acid usage refines the definition of PDZ-binding motif
-
Chimura, T., Launey, T. and Ito, M. (2011) Evolutionarily conserved bias of amino-acid usage refines the definition of PDZ-binding motif. BMC Genomics, 12, 300.
-
(2011)
BMC Genomics
, vol.12
, pp. 300
-
-
Chimura, T.1
Launey, T.2
Ito, M.3
-
43
-
-
84864615365
-
Plasticity of PDZ domains in ligand recognition and signaling
-
Ivarsson, Y. (2012) Plasticity of PDZ domains in ligand recognition and signaling. FEBS Lett., 586, 2638-2647.
-
(2012)
FEBS Lett.
, vol.586
, pp. 2638-2647
-
-
Ivarsson, Y.1
-
44
-
-
30344442873
-
The many faces of SAM
-
Qiao, F. and Bowie, J.U. (2005) The many faces of SAM. Sci. STKE, 2005, (286):re7.
-
(2005)
Sci. STKE
, vol.2005
, Issue.286
-
-
Qiao, F.1
Bowie, J.U.2
-
45
-
-
77952705907
-
PDZ domains and their binding partners:structure, specificity, and modification
-
Lee, H.J. and Zheng, J.J. (2010) PDZ domains and their binding partners:structure, specificity, and modification. Cell Commun. Signal., 8, 8.
-
(2010)
Cell Commun. Signal.
, vol.8
, pp. 8
-
-
Lee, H.J.1
Zheng, J.J.2
-
46
-
-
79954994430
-
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia
-
Caberlotto, E., Michel, V., Foucher, I., Bahloul, A., Goodyear, R.J., Pepermans, E., Michalski, N., Perfettini, I., Alegria-Prevot, O., Chardenoux, S. et al. (2011) Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc. Natl. Acad. Sci. USA, 108, 5825-5830.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 5825-5830
-
-
Caberlotto, E.1
Michel, V.2
Foucher, I.3
Bahloul, A.4
Goodyear, R.J.5
Pepermans, E.6
Michalski, N.7
Perfettini, I.8
Alegria-Prevot, O.9
Chardenoux, S.10
-
47
-
-
84879797561
-
TGF-beta signaling is associated with endocytosis at the pocket region of the primary cilium
-
Clement, C.A., Ajbro, K.D., Koefoed, K., Vestergaard, M.L., Veland, I.R., Henriques de Jesus, M.P., Pedersen, L.B., Benmerah, A., Andersen, C.Y., Larsen, L.A. and Christensen, S.T. (2013) TGF-beta signaling is associated with endocytosis at the pocket region of the primary cilium. Cell Rep., 3, 1806-1814.
-
(2013)
Cell Rep.
, vol.3
, pp. 1806-1814
-
-
Clement, C.A.1
Ajbro, K.D.2
Koefoed, K.3
Vestergaard, M.L.4
Veland, I.R.5
Henriques de Jesus, M.P.6
Pedersen, L.B.7
Benmerah, A.8
Andersen, C.Y.9
Larsen, L.A.10
Christensen, S.T.11
-
48
-
-
84879848538
-
Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length
-
Ghossoub, R., Hu, Q., Failler, M., Rouyez, M.C., Spitzbarth, B., Mostowy, S., Wolfrum, U., Saunier, S., Cossart, P., Jamesnelson,W.and Benmerah,A. (2013) Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length. J. Cell Sci., 126, 2583-2594.
-
(2013)
J. Cell Sci.
, vol.126
, pp. 2583-2594
-
-
Ghossoub, R.1
Hu, Q.2
Failler, M.3
Rouyez, M.C.4
Spitzbarth, B.5
Mostowy, S.6
Wolfrum, U.7
Saunier, S.8
Cossart, P.9
Jamesnelson, W.10
Benmerah, A.11
-
49
-
-
84858701070
-
Endocytosis genes facilitate protein and membrane transport in C. elegans Sensory Cilia
-
Kaplan, O.I., Doroquez, D.B., Cevik, S., Bowie, R.V., Clarke, L., Sanders, A.A., Kida, K., Rappoport, J.Z., Sengupta, P. and Blacque, O.E. (2012) Endocytosis genes facilitate protein and membrane transport in C. elegans Sensory Cilia. Curr. Biol., 22, 451-460.
-
(2012)
Curr. Biol.
, vol.22
, pp. 451-460
-
-
Kaplan, O.I.1
Doroquez, D.B.2
Cevik, S.3
Bowie, R.V.4
Clarke, L.5
Sanders, A.A.6
Kida, K.7
Rappoport, J.Z.8
Sengupta, P.9
Blacque, O.E.10
-
50
-
-
78650753565
-
Local clustering of transferrin receptors promotes clathrin-coated pit initiation
-
Liu, A.P., Aguet, F., Danuser, G. and Schmid, S.L. (2010) Local clustering of transferrin receptors promotes clathrin-coated pit initiation. J. Cell Biol., 191, 1381-1393.
-
(2010)
J. Cell Biol.
, vol.191
, pp. 1381-1393
-
-
Liu, A.P.1
Aguet, F.2
Danuser, G.3
Schmid, S.L.4
-
51
-
-
0027259012
-
Transferrin is made and bound by photoreceptor cells
-
Davis, A.A. and Hunt, R.C. (1993) Transferrin is made and bound by photoreceptor cells. J. Cell Physiol., 156, 280-285.
-
(1993)
J. Cell Physiol.
, vol.156
, pp. 280-285
-
-
Davis, A.A.1
Hunt, R.C.2
-
52
-
-
0032964289
-
Cellular iron metabolism
-
Ponka, P. (1999) Cellular iron metabolism. Kidney Int. Suppl., 69, S2-11.
-
(1999)
Kidney Int. Suppl.
, vol.69
-
-
Ponka, P.1
-
53
-
-
0036152131
-
Impaired retinal iron homeostasis associated with defective phagocytosis in Royal College of Surgeons rats
-
Yefimova, M.G., Jeanny, J.C., Keller, N., Sergeant, C., Guillonneau, X., Beaumont, C. and Courtois, Y. (2002) Impaired retinal iron homeostasis associated with defective phagocytosis in Royal College of Surgeons rats. Invest. Ophthalmol. Vis. Sci., 43, 537-545.
-
(2002)
Invest. Ophthalmol. Vis. Sci.
, vol.43
, pp. 537-545
-
-
Yefimova, M.G.1
Jeanny, J.C.2
Keller, N.3
Sergeant, C.4
Guillonneau, X.5
Beaumont, C.6
Courtois, Y.7
-
54
-
-
35348944706
-
Iron homeostasis and toxicity in retinal degeneration
-
He, X., Hahn, P., Iacovelli, J., Wong, R., King, C., Bhisitkul, R., Massaro-Giordano, M. and Dunaief, J.L. (2007) Iron homeostasis and toxicity in retinal degeneration. Prog. Retin. Eye Res., 26, 649-673.
-
(2007)
Prog. Retin. Eye Res.
, vol.26
, pp. 649-673
-
-
He, X.1
Hahn, P.2
Iacovelli, J.3
Wong, R.4
King, C.5
Bhisitkul, R.6
Massaro-Giordano, M.7
Dunaief, J.L.8
-
55
-
-
0031935652
-
Iron-induced apoptosis in the photoreceptor cells of rats
-
Wang, Z.J., Lam, K.W., Lam, T.T. and Tso, M.O. (1998) Iron-induced apoptosis in the photoreceptor cells of rats. Invest. Ophthalmol. Vis. Sci., 39, 631-633.
-
(1998)
Invest. Ophthalmol. Vis. Sci.
, vol.39
, pp. 631-633
-
-
Wang, Z.J.1
Lam, K.W.2
Lam, T.T.3
Tso, M.O.4
-
56
-
-
79955931286
-
Light-induced retinal degeneration correlates with changes in iron metabolism gene expression, ferritin level, and aging
-
Picard, E., Ranchon-Cole, I., Jonet, L., Beaumont, C., Behar-Cohen, F., Courtois, Y. and Jeanny, J.C. (2011) Light-induced retinal degeneration correlates with changes in iron metabolism gene expression, ferritin level, and aging. Invest. Ophthalmol. Vis. Sci., 52, 1261-1274.
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 1261-1274
-
-
Picard, E.1
Ranchon-Cole, I.2
Jonet, L.3
Beaumont, C.4
Behar-Cohen, F.5
Courtois, Y.6
Jeanny, J.C.7
-
57
-
-
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
-
58
-
-
84903966711
-
Retinal Degenerative Diseases
-
In Ash, J., Hollyfield, J.G., LaVail, M.M., Anderson, R.E., Grimm, C. and Rickman, C. (eds), NewYork, Springer, in press
-
Sorusch, N., Wunderlich, K., Bauß, K., Nagel-Wolfrum, K. and Wolfrum, U. (2014) In Ash, J., Hollyfield, J.G., LaVail, M.M., Anderson, R.E., Grimm, C. and Rickman, C. (eds), Retinal Degenerative Diseases.NewYork, Springer, in press.
-
(2014)
-
-
Sorusch, N.1
Wunderlich, K.2
Bauß, K.3
Nagel-Wolfrum, K.4
Wolfrum, U.5
-
59
-
-
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
-
60
-
-
0033041024
-
Linkage of a nucleolin-related protein and casein kinase II with the detergent-stable photoreceptor cytoskeleton
-
Hollander, B.A., Liang, M.-Y. and Besharse, J.C. (1999) Linkage of a nucleolin-related protein and casein kinase II with the detergent-stable photoreceptor cytoskeleton. Cell Motil. Cytoskel., 43, 114-127.
-
(1999)
Cell Motil. Cytoskel.
, vol.43
, pp. 114-127
-
-
Hollander, B.A.1
Liang, M.-Y.2
Besharse, J.C.3
-
61
-
-
10944265315
-
Differential expression and interaction with the visual G-protein transducin of centrin isoforms in mammalian photoreceptor cells
-
Giessl, A., Pulvermüller, A., Trojan, P., Park, J.K., Choe, H.W., Ernst, O.P., Hofmann, K.P. and Wolfrum, U. (2004) Differential expression and interaction with the visual G-protein transducin of centrin isoforms in mammalian photoreceptor cells. J. Biol. Chem., 279, 51472-51481.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 51472-51481
-
-
Giessl, A.1
Pulvermüller, A.2
Trojan, P.3
Park, J.K.4
Choe, H.W.5
Ernst, O.P.6
Hofmann, K.P.7
Wolfrum, U.8
-
62
-
-
0037402872
-
Arrestin migrates in photoreceptors in response to light: a study of arrestin localization using an arrestin-GFP fusion protein in transgenic frogs
-
Peterson, J.J., Tam, B.M., Moritz, O.L., Shelamer, C.L., Dugger, D.R., McDowell, J.H., Hargrave, P.A., Papermaster, D.S. and Smith, W.C. (2003) Arrestin migrates in photoreceptors in response to light: a study of arrestin localization using an arrestin-GFP fusion protein in transgenic frogs. Exp. Eye Res., 76, 553-563.
-
(2003)
Exp. Eye Res.
, vol.76
, pp. 553-563
-
-
Peterson, J.J.1
Tam, B.M.2
Moritz, O.L.3
Shelamer, C.L.4
Dugger, D.R.5
McDowell, J.H.6
Hargrave, P.A.7
Papermaster, D.S.8
Smith, W.C.9
-
63
-
-
60349116453
-
Versatile screening for binary protein-protein interactions by yeast two-hybrid mating
-
Letteboer, S.J. and Roepman, R. (2008) Versatile screening for binary protein-protein interactions by yeast two-hybrid mating. Methods Mol. Biol., 484, 145-159.
-
(2008)
Methods Mol. Biol.
, vol.484
, pp. 145-159
-
-
Letteboer, S.J.1
Roepman, R.2
-
64
-
-
0037780971
-
A genetically encoded fluorescent reporter reveals oscillatory phosphorylation by protein kinase C
-
Violin, J.D., Zhang, J., Tsien, R.Y. and Newton, A.C. (2003) A genetically encoded fluorescent reporter reveals oscillatory phosphorylation by protein kinase C. J. Cell Biol., 161, 899-909.
-
(2003)
J. Cell Biol.
, vol.161
, pp. 899-909
-
-
Violin, J.D.1
Zhang, J.2
Tsien, R.Y.3
Newton, A.C.4
-
65
-
-
0026072715
-
Centrin-and a-actinin-like immunoreactivity in the ciliary rootlets of insect sensilla
-
Wolfrum, U. (1991) Centrin-and a-actinin-like immunoreactivity in the ciliary rootlets of insect sensilla. Cell Tissue Res., 266, 231-238.
-
(1991)
Cell Tissue Res.
, vol.266
, pp. 231-238
-
-
Wolfrum, U.1
-
66
-
-
77953578193
-
Proximity ligation assays: a recent addition to the proteomics toolbox
-
Weibrecht, I., Leuchowius, K.J., Clausson, C.M., Conze, T., Jarvius, M., Howell, W.M., Kamali-Moghaddam, M. and Soderberg, O. (2010) Proximity ligation assays: a recent addition to the proteomics toolbox. Expert. Rev. Proteomics, 7, 401-409.
-
(2010)
Expert. Rev. Proteomics
, vol.7
, pp. 401-409
-
-
Weibrecht, I.1
Leuchowius, K.J.2
Clausson, C.M.3
Conze, T.4
Jarvius, M.5
Howell, W.M.6
Kamali-Moghaddam, M.7
Soderberg, O.8
-
67
-
-
77950588006
-
Immunoelectron microscopy of vesicle transport to the primary cilium of photoreceptor cells
-
Sedmak, T., Sehn, E. and Wolfrum, U. (2009) Immunoelectron microscopy of vesicle transport to the primary cilium of photoreceptor cells. Methods Cell Biol., 94, 259-272.
-
(2009)
Methods Cell Biol.
, vol.94
, pp. 259-272
-
-
Sedmak, T.1
Sehn, E.2
Wolfrum, U.3
|