메뉴 건너뛰기




Volumn , Issue , 2012, Pages 51-73

Protein networks related to the usher syndrome gain insights in the molecular basis of the disease

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84891979906     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter
Times cited : (16)

References (98)
  • 1
    • 0036021030 scopus 로고    scopus 로고
    • USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
    • Adato, A., Vreugde, S., Joensuu, T. et al. (2002) USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur. J. Hum. Genet. 10, 339-350.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 339-350
    • Adato, A.1    Vreugde, S.2    Joensuu, T.3
  • 2
    • 13544276525 scopus 로고    scopus 로고
    • Interactions in the network of Usher syndrome type 1 proteins
    • Adato, A., Michel, V., Kikkawa, Y. et al. (2005) Interactions in the network of Usher syndrome type 1 proteins. Hum. Mol. Genet. 14, 347-356.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 347-356
    • Adato, A.1    Michel, V.2    Kikkawa, Y.3
  • 3
    • 0034968358 scopus 로고    scopus 로고
    • Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    • Ahmed, Z. M., Riazuddin, S., Bernstein, S. L. et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69, 25-34.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 25-34
    • Ahmed, Z.M.1    Riazuddin, S.2    Bernstein, S.L.3
  • 5
    • 0035421436 scopus 로고    scopus 로고
    • Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    • Alagramam, K. N., Yuan, H., Kuehn, M. H. et al. (2001) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Mol. Genet. 10, 1709-1718.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1709-1718
    • Alagramam, K.N.1    Yuan, H.2    Kuehn, M.H.3
  • 6
    • 0018746314 scopus 로고
    • Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa
    • Arden, G. B. and Fox, B. (1979) Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa. Nature 279, 534-536.
    • (1979) Nature , vol.279 , pp. 534-536
    • Arden, G.B.1    Fox, B.2
  • 7
    • 0028607650 scopus 로고
    • Bronchial asthma in a patient with Usher syndrome: case report
    • Baris, B., Ataman, M., Sener, C., Kalyoncu, F. (1994) Bronchial asthma in a patient with Usher syndrome: case report. J. Asthma 31, 487-490.
    • (1994) J. Asthma , vol.31 , pp. 487-490
    • Baris, B.1    Ataman, M.2    Sener, C.3    Kalyoncu, F.4
  • 9
    • 0002763351 scopus 로고
    • The photoreceptor connecting cilium-a model for the transition zone
    • In: Bloodgood, R. A. (eds.), Plenum, New York
    • Besharse, J. C. and Horst, C. J. (1990) The photoreceptor connecting cilium-a model for the transition zone. In: Bloodgood, R. A. (eds.) Ciliary and flagellar membranes. Plenum, New York, pp. 389-417.
    • (1990) Ciliary and flagellar membranes. , pp. 389-417
    • Besharse, J.C.1    Horst, C.J.2
  • 10
    • 0033822063 scopus 로고    scopus 로고
    • A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
    • Bitner-Glindzicz, M., Lindley, K. J., Rutland, P. et al. (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat. Genet. 26, 56-60.
    • (2000) Nat. Genet. , vol.26 , pp. 56-60
    • Bitner-Glindzicz, M.1    Lindley, K.J.2    Rutland, P.3
  • 11
    • 12244277402 scopus 로고    scopus 로고
    • Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
    • Boëda, B., El Amraoui, A., Bahloul, A. et al. (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 21, 6689-6699.
    • (2002) EMBO J. , vol.21 , pp. 6689-6699
    • Boëda, B.1    El Amraoui, A.2    Bahloul, A.3
  • 12
    • 0035158639 scopus 로고    scopus 로고
    • Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    • Bolz, H., von Brederlow, B., Ramirez, A. et al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat. Genet 27, 108-112.
    • (2001) Nat. Genet , vol.27 , pp. 108-112
    • Bolz, H.1    von Brederlow, B.2    Ramirez, A.3
  • 13
    • 0027409796 scopus 로고
    • Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers
    • Bonneau, D., Raymond, F., Kremer, C., Klossek, J. M., Kaplan, J., Patte, F. (1993) Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. J. Med. Genet. 30, 253-254.
    • (1993) J. Med. Genet. , vol.30 , pp. 253-254
    • Bonneau, D.1    Raymond, F.2    Kremer, C.3    Klossek, J.M.4    Kaplan, J.5    Patte, F.6
  • 14
    • 0035168168 scopus 로고    scopus 로고
    • Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    • Bork, J. M., Peters, L. M., Riazuddin, S. et al. (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am. J Hum. Genet 68, 26-37.
    • (2001) Am. J Hum. Genet , vol.68 , pp. 26-37
    • Bork, J.M.1    Peters, L.M.2    Riazuddin, S.3
  • 15
    • 0031032971 scopus 로고    scopus 로고
    • A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
    • Chaib, H., Kaplan, J., Gerber, S. et al. (1997) A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum. Mol. Genet. 6, 27-31.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 27-31
    • Chaib, H.1    Kaplan, J.2    Gerber, S.3
  • 16
    • 0000442642 scopus 로고
    • Vertebrate retinal cells and their organization
    • Cohen, A. I. (1963) Vertebrate retinal cells and their organization. Biol. Rev. Cambridge Philos. Soc. 38, 427-459.
    • (1963) Biol. Rev. Cambridge Philos. Soc. , vol.38 , pp. 427-459
    • Cohen, A.I.1
  • 17
    • 33947201782 scopus 로고    scopus 로고
    • The changing face of Usher syndrome: clinical implications
    • Cohen, M., Bitner-Glindzicz, M., Luxon, L. (2007) The changing face of Usher syndrome: clinical implications. Int. J. Audiol. 46, 82-93.
    • (2007) Int. J. Audiol. , vol.46 , pp. 82-93
    • Cohen, M.1    Bitner-Glindzicz, M.2    Luxon, L.3
  • 18
    • 33750607737 scopus 로고    scopus 로고
    • A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity
    • Deretic, D. (2006) A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity. Vision Res. 46, 4427-4433.
    • (2006) Vision Res. , vol.46 , pp. 4427-4433
    • Deretic, D.1
  • 19
    • 0035168151 scopus 로고    scopus 로고
    • Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
    • Di Palma, F., Holme, R. H., Bryda, E. C. et al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat. Genet. 27, 103-107.
    • (2001) Nat. Genet. , vol.27 , pp. 103-107
    • Di Palma, F.1    Holme, R.H.2    Bryda, E.C.3
  • 21
    • 77953207481 scopus 로고    scopus 로고
    • PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
    • Ebermann, I., Phillips, J. B., Liebau, M. C. et al. (2010) PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J. Clin. Invest. 120, 1812-1823
    • (2010) J. Clin. Invest. , vol.120 , pp. 1812-1823
    • Ebermann, I.1    Phillips, J.B.2    Liebau, M.C.3
  • 22
    • 34548457640 scopus 로고    scopus 로고
    • Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome
    • Ebermann, I., Wilke, R., Lauhoff, T., Lubben, D., Zrenner, E., Bolz, H. J. (2007) Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome. Mol. Vis. 13, 1539-1547.
    • (2007) Mol. Vis. , vol.13 , pp. 1539-1547
    • Ebermann, I.1    Wilke, R.2    Lauhoff, T.3    Lubben, D.4    Zrenner, E.5    Bolz, H.J.6
  • 23
    • 27844517356 scopus 로고    scopus 로고
    • Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
    • El-Amraoui, A. and Petit, C. (2005) Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J. Cell Sci. 118, 4593-4603.
    • (2005) J. Cell Sci. , vol.118 , pp. 4593-4603
    • El-Amraoui, A.1    Petit, C.2
  • 24
    • 0032526489 scopus 로고    scopus 로고
    • Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41
    • Eudy, J. D., Yao, S., Weston, M. D. et al. (1998) Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. Genomics 50, 382-384.
    • (1998) Genomics , vol.50 , pp. 382-384
    • Eudy, J.D.1    Yao, S.2    Weston, M.D.3
  • 25
    • 70149117792 scopus 로고    scopus 로고
    • CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development
    • Geller, S. F., Guerin, K. I., Visel, M. et al. (2009) CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. PLoS. Genet. 5, e1000607
    • (2009) PLoS. Genet. , vol.5
    • Geller, S.F.1    Guerin, K.I.2    Visel, M.3
  • 26
    • 70349448090 scopus 로고    scopus 로고
    • Mechanotransduction by hair cells: models, molecules, and mechanisms
    • Gillespie, P. G. and Muller, U. (2009) Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell 139, 33-44.
    • (2009) Cell , vol.139 , pp. 33-44
    • Gillespie, P.G.1    Muller, U.2
  • 27
    • 34548423620 scopus 로고    scopus 로고
    • MPP1 links the Usher protein network and the Crumbs protein complex in the retina
    • Gosens I., van Wijk E., Kersten F., et al. (2007) MPP1 links the Usher protein network and the Crumbs protein complex in the retina. Hum Mol Genet 16, 1993-2003.
    • (2007) Hum Mol Genet , vol.16 , pp. 1993-2003
    • Gosens, I.1    van Wijk, E.2    Kersten, F.3
  • 28
    • 65549085188 scopus 로고    scopus 로고
    • Harmonin mutations cause mechanotransduction defects in cochlear hair cells
    • Grillet, N., Xiong, W., Reynolds, A. et al. (2009) Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron 62, 375-387.
    • (2009) Neuron , vol.62 , pp. 375-387
    • Grillet, N.1    Xiong, W.2    Reynolds, A.3
  • 29
    • 0022618089 scopus 로고
    • Abnormal sperm and photoreceptor axonemes in Usher's syndrome
    • Hunter, D. G., Fishman, G. A., Mehta, R. S., Kretzer, F. L. (1986) Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch. Ophthalmol. 104, 385-389.
    • (1986) Arch. Ophthalmol. , vol.104 , pp. 385-389
    • Hunter, D.G.1    Fishman, G.A.2    Mehta, R.S.3    Kretzer, F.L.4
  • 30
    • 0038075324 scopus 로고    scopus 로고
    • Characterization of the motor activity of mammalian myosin VIIA
    • Inoue, A. and Ikebe, M. (2003) Characterization of the motor activity of mammalian myosin VIIA. J. Biol. Chem. 278, 5478-5487.
    • (2003) J. Biol. Chem. , vol.278 , pp. 5478-5487
    • Inoue, A.1    Ikebe, M.2
  • 31
    • 48049108714 scopus 로고    scopus 로고
    • Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
    • Jacobson, S. G., Cideciyan, A. V., Aleman, T. S. et al. (2008) Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum. Mol. Genet. 17, 2405-2415.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 2405-2415
    • Jacobson, S.G.1    Cideciyan, A.V.2    Aleman, T.S.3
  • 32
    • 0034835042 scopus 로고    scopus 로고
    • Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
    • Joensuu, T., Hamalainen, R., Yuan, B. et al. (2001) Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am. J. Hum. Genet. 69, 673-684.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 673-684
    • Joensuu, T.1    Hamalainen, R.2    Yuan, B.3
  • 33
    • 0345530996 scopus 로고    scopus 로고
    • Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
    • Johnson, K. R., Gagnon, L. H., Webb, L. S. et al. (2003) Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum. Mol. Genet. 12, 3075-3086.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 3075-3086
    • Johnson, K.R.1    Gagnon, L.H.2    Webb, L.S.3
  • 34
    • 16244371351 scopus 로고    scopus 로고
    • The Mass1(frings) mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC
    • Johnson, K. R., Zheng, Q. Y., Weston, M. D., Ptacek, L. J., Noben-Trauth, K. (2005) The Mass1(frings) mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics 85, 582-590.
    • (2005) Genomics , vol.85 , pp. 582-590
    • Johnson, K.R.1    Zheng, Q.Y.2    Weston, M.D.3    Ptacek, L.J.4    Noben-Trauth, K.5
  • 35
    • 34548509448 scopus 로고    scopus 로고
    • Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
    • Kazmierczak, P., Sakaguchi, H., Tokita, J. et al. (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature 449, 87-91.
    • (2007) Nature , vol.449 , pp. 87-91
    • Kazmierczak, P.1    Sakaguchi, H.2    Tokita, J.3
  • 37
    • 77649114893 scopus 로고    scopus 로고
    • Deafness and retinal degeneration in a novel USH1C knock-in mouse model
    • Lentz, J. J., Gordon, W. C., Farris, H. E. et al. (2010) Deafness and retinal degeneration in a novel USH1C knock-in mouse model. Dev. Neurobiol. 70, 253-267.
    • (2010) Dev. Neurobiol. , vol.70 , pp. 253-267
    • Lentz, J.J.1    Gordon, W.C.2    Farris, H.E.3
  • 38
    • 44449102085 scopus 로고    scopus 로고
    • A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation, and differential growth
    • Lefèvre G., Michel V., Weil D., et al. (2008) A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation, and differential growth. Development 135, 1427-1437
    • (2008) Development , vol.135 , pp. 1427-1437
    • Lefèvre, G.1    Michel, V.2    Weil, D.3
  • 39
    • 0002318769 scopus 로고
    • Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa
    • Liebreich, R. (1861) Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa. Dtsch. Klin. 13, 53-55.
    • (1861) Dtsch. Klin. , vol.13 , pp. 53-55
    • Liebreich, R.1
  • 40
    • 0030811605 scopus 로고    scopus 로고
    • Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells
    • Liu, X., Vansant, G., Udovichenko, I. P., Wolfrum, U., Williams, D. S. (1997) Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil. Cytoskeleton 37, 240-252.
    • (1997) Cell Motil. Cytoskeleton , vol.37 , pp. 240-252
    • Liu, X.1    Vansant, G.2    Udovichenko, I.P.3    Wolfrum, U.4    Williams, D.S.5
  • 41
    • 0033178341 scopus 로고    scopus 로고
    • Myosin VIIa participates in opsin transport through the photoreceptor cilium
    • Liu, X., Udovichenko, I. P., Brown, S. D., Steel, K. P., Williams, D. S. (1999) Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci. 19, 6267-6274.
    • (1999) J. Neurosci. , vol.19 , pp. 6267-6274
    • Liu, X.1    Udovichenko, I.P.2    Brown, S.D.3    Steel, K.P.4    Williams, D.S.5
  • 42
    • 34248353947 scopus 로고    scopus 로고
    • Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
    • Liu, X., Bulgakov, O. V., Darrow, K. N. et al. (2007) Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc. Natl. Acad. Sci. U.S.A 104, 4413-4418.
    • (2007) Proc. Natl. Acad. Sci. U.S.A , vol.104 , pp. 4413-4418
    • Liu, X.1    Bulgakov, O.V.2    Darrow, K.N.3
  • 43
    • 84892072233 scopus 로고    scopus 로고
    • SANS (USH1G) in USH-Proteinnetzwerken von Photorezeptorzellen der Vertebratenretina
    • Dissertation Johannes Gutenberg-Universität, Mainz, Germany
    • Maerker, T. (2007) SANS (USH1G) in USH-Proteinnetzwerken von Photorezeptorzellen der Vertebratenretina. Dissertation Johannes Gutenberg-Universität, Mainz, Germany.
    • (2007)
    • Maerker, T.1
  • 44
    • 37549042393 scopus 로고    scopus 로고
    • 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. et al. (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
  • 45
    • 33745787321 scopus 로고    scopus 로고
    • The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles
    • McGee, J., Goodyear, R. J., McMillan, D. R. et al. (2006) The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J. Neurosci. 26, 6543-6553.
    • (2006) J. Neurosci. , vol.26 , pp. 6543-6553
    • McGee, J.1    Goodyear, R.J.2    McMillan, D.R.3
  • 46
    • 34250377309 scopus 로고    scopus 로고
    • Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
    • Michalski, N., Michel, V., Bahloul, A. et al. (2007) Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J. Neurosci. 27, 6478-6488.
    • (2007) J. Neurosci. , vol.27 , pp. 6478-6488
    • Michalski, N.1    Michel, V.2    Bahloul, A.3
  • 47
    • 73949146587 scopus 로고    scopus 로고
    • Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells
    • Michalski, N., Michel, V., Caberlotto, E. et al. (2009) Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells. Pflugers Arch. 459, 115-130.
    • (2009) Pflugers Arch. , vol.459 , pp. 115-130
    • Michalski, N.1    Michel, V.2    Caberlotto, E.3
  • 48
    • 84892135987 scopus 로고    scopus 로고
    • Expression of Usher syndrome-related proteins in the olfactory epithelium
    • University of Silesia, Katowice, Poland
    • Mikosz, M. (2005) Expression of Usher syndrome-related proteins in the olfactory epithelium. Bachelor thesis, University of Silesia, Katowice, Poland.
    • (2005) Bachelor thesis
    • Mikosz, M.1
  • 49
    • 50849144332 scopus 로고    scopus 로고
    • Cadherins and mechanotransduction by hair cells
    • Muller, U. (2008) Cadherins and mechanotransduction by hair cells. Curr. Opin. Cell Biol. 20, 557-566.
    • (2008) Curr. Opin. Cell Biol. , vol.20 , pp. 557-566
    • Muller, U.1
  • 50
    • 0036556270 scopus 로고    scopus 로고
    • A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25
    • Mustapha, M., Chouery, E., Torchard-Pagnez, D. et al. (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
  • 51
    • 34250012834 scopus 로고    scopus 로고
    • A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
    • Nachury, M. V., Loktev, A. V., Zhang, Q. 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
  • 52
    • 0022479906 scopus 로고
    • The teleost cone cytoskeleton. Localization of actin, microtubules, and intermediate filaments
    • Nagle, B. W., Okamoto, C., Taggart, B., Burnside, B. (1986) The teleost cone cytoskeleton. Localization of actin, microtubules, and intermediate filaments. Invest Ophthalmol. Vis. Sci. 27, 689-701.
    • (1986) Invest Ophthalmol. Vis. Sci. , vol.27 , pp. 689-701
    • Nagle, B.W.1    Okamoto, C.2    Taggart, B.3    Burnside, B.4
  • 53
  • 55
    • 65249180705 scopus 로고    scopus 로고
    • Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23
    • Pan, L., Yan, J., Wu, L., Zhang, M. (2009) Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. Proc. Natl. Acad. Sci. U.S.A 106, 5575-5580.
    • (2009) Proc. Natl. Acad. Sci. U.S.A , vol.106 , pp. 5575-5580
    • Pan, L.1    Yan, J.2    Wu, L.3    Zhang, M.4
  • 56
    • 0036241296 scopus 로고    scopus 로고
    • The birth and death of photoreceptors: the Friedenwald Lecture
    • Papermaster, D. S. (2002) The birth and death of photoreceptors: the Friedenwald Lecture. Invest Ophthalmol. Vis. Sci. 43, 1300-1309.
    • (2002) Invest Ophthalmol. Vis. Sci. , vol.43 , pp. 1300-1309
    • Papermaster, D.S.1
  • 57
    • 0020678847 scopus 로고
    • Fine structure of a periciliary ridge complex of frog retinal rod cells revealed by ultrahigh resolution scanning electron microscopy
    • Peters, K. R., Palade, G. E., Schneider, B. G., Papermaster, D. S. (1983) Fine structure of a periciliary ridge complex of frog retinal rod cells revealed by ultrahigh resolution scanning electron microscopy. J. Cell Biol. 96, 265-276.
    • (1983) J. Cell Biol. , vol.96 , pp. 265-276
    • Peters, K.R.1    Palade, G.E.2    Schneider, B.G.3    Papermaster, D.S.4
  • 58
    • 0035775666 scopus 로고    scopus 로고
    • 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
  • 59
    • 0035819066 scopus 로고    scopus 로고
    • A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival
    • Rattner, A., Smallwood, P. M., Williams, J. et al. (2001) A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival. Neuron 32, 775-786.
    • (2001) Neuron , vol.32 , pp. 775-786
    • Rattner, A.1    Smallwood, P.M.2    Williams, J.3
  • 60
    • 0142200818 scopus 로고    scopus 로고
    • Differential distribution of harmonin isoforms and their possible role in Usher 1 protein complexes in mammalian photoreceptor cells
    • Reiners, J., Reidel, B., El-Amraoui, A., Boëda, B., Huber, I., Petit, C., Wolfrum, U. (2003) Differential distribution of harmonin isoforms and their possible role in Usher 1 protein complexes in mammalian photoreceptor cells. Invest. Ophthalmol. Visual. Sci. 44, 5006-5015.
    • (2003) Invest. Ophthalmol. Visual. Sci. , vol.44 , pp. 5006-5015
    • Reiners, J.1    Reidel, B.2    El-Amraoui, A.3    Boëda, B.4    Huber, I.5    Petit, C.6    Wolfrum, U.7
  • 61
    • 84892011179 scopus 로고    scopus 로고
    • Molekulare Analyse des Gerüstproteins Harmonin in der Retina und seine zentrale Rolle im Usher Syndrom
    • Dissertation Johannes-Gutenberg-Universität Mainz, Germany
    • Reiners, J. (2004). Molekulare Analyse des Gerüstproteins Harmonin in der Retina und seine zentrale Rolle im Usher Syndrom. Dissertation Johannes-Gutenberg-Universität Mainz, Germany.
    • (2004)
    • Reiners, J.1
  • 62
    • 25444448312 scopus 로고    scopus 로고
    • Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)
    • Reiners, J., Marker, T., Jurgens, K., Reidel, B., Wolfrum, U. (2005a) Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol. Vis. 11, 347-355.
    • (2005) Mol. Vis. , vol.11 , pp. 347-355
    • Reiners, J.1    Marker, T.2    Jurgens, K.3    Reidel, B.4    Wolfrum, U.5
  • 63
    • 29644447271 scopus 로고    scopus 로고
    • Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
    • Reiners, J., van Wijk, E., Marker, T. et al. (2005b) Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum. Mol. Genet. 14, 3933-3943.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3933-3943
    • Reiners, J.1    van Wijk, E.2    Marker, T.3
  • 64
    • 33646856845 scopus 로고    scopus 로고
    • 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., 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
  • 65
    • 0033927821 scopus 로고    scopus 로고
    • Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
    • Rivolta, C., Sweklo, E. A., Berson, E. L., Dryja, T. P. (2000) Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66, 1975-1978.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1975-1978
    • Rivolta, C.1    Sweklo, E.A.2    Berson, E.L.3    Dryja, T.P.4
  • 66
    • 38449090748 scopus 로고    scopus 로고
    • 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
  • 68
    • 58949083733 scopus 로고    scopus 로고
    • Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment
    • Schneider, E., Marker, T., Daser, A. et al. (2009) Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum. Mol. Genet. 18, 655-666.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 655-666
    • Schneider, E.1    Marker, T.2    Daser, A.3
  • 69
    • 77950589400 scopus 로고    scopus 로고
    • Intraflagellar transport molecules in ciliary and nonciliary cells of the retina
    • Sedmak, T. and Wolfrum, U. (2010) Intraflagellar transport molecules in ciliary and nonciliary cells of the retina. J. Cell Biol. 189, 171-186.
    • (2010) J. Cell Biol. , vol.189 , pp. 171-186
    • Sedmak, T.1    Wolfrum, U.2
  • 70
    • 0033008616 scopus 로고    scopus 로고
    • Comparative study of visual, auditory, and olfactory function in Usher syndrome
    • Seeliger, M., Pfister, M., Gendo, K. et al. (1999) Comparative study of visual, auditory, and olfactory function in Usher syndrome. Graefes Arch. Clin. Exp. Ophthalmol. 237, 301-307.
    • (1999) Graefes Arch. Clin. Exp. Ophthalmol. , vol.237 , pp. 301-307
    • Seeliger, M.1    Pfister, M.2    Gendo, K.3
  • 71
    • 33644537736 scopus 로고    scopus 로고
    • Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
    • Senften, M., Schwander, M., Kazmierczak, P. et al. (2006) Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J. Neurosci. 26, 2060-2071.
    • (2006) J. Neurosci. , vol.26 , pp. 2060-2071
    • Senften, M.1    Schwander, M.2    Kazmierczak, P.3
  • 72
    • 4344578456 scopus 로고    scopus 로고
    • Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
    • Seyedahmadi, B. J., Rivolta, C., Keene, J. A., Berson, E. L., Dryja, T. P. (2004) Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res. 79, 167-173.
    • (2004) Exp Eye Res. , vol.79 , pp. 167-173
    • Seyedahmadi, B.J.1    Rivolta, C.2    Keene, J.A.3    Berson, E.L.4    Dryja, T.P.5
  • 74
    • 0027058291 scopus 로고
    • Localization of two genes for Usher syndrome type I to chromosome 11
    • Smith, R. J., Lee, E. C., Kimberling, W. J. et al. (1992) Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14, 995-1002.
    • (1992) Genomics , vol.14 , pp. 995-1002
    • Smith, R.J.1    Lee, E.C.2    Kimberling, W.J.3
  • 75
    • 59449084437 scopus 로고    scopus 로고
    • Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses
    • Specht, D., Wu, S. B., Turner, P. et al. (2009) Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses. Invest Ophthalmol. Vis. Sci. 50, 505-515.
    • (2009) Invest Ophthalmol. Vis. Sci. , vol.50 , pp. 505-515
    • Specht, D.1    Wu, S.B.2    Turner, P.3
  • 76
    • 0033603239 scopus 로고    scopus 로고
    • Rhodopsińs carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding the dynein light chain Tctex-1
    • Tai, A. W., Chuang, J.-Z., Bode, C., Wolfrum, U., Sung, C.-H. (1999) Rhodopsińs carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding the dynein light chain Tctex-1. Cell 97, 877-887.
    • (1999) Cell , vol.97 , pp. 877-887
    • Tai, A.W.1    Chuang, J.-Z.2    Bode, C.3    Wolfrum, U.4    Sung, C.-H.5
  • 77
    • 0037081618 scopus 로고    scopus 로고
    • Actin-based motor properties of native myosin VIIa
    • Udovichenko, I. P., Gibbs, D., Williams, D. S. (2002) Actin-based motor properties of native myosin VIIa. J. Cell Sci. 115, 445-450.
    • (2002) J. Cell Sci. , vol.115 , pp. 445-450
    • Udovichenko, I.P.1    Gibbs, D.2    Williams, D.S.3
  • 79
    • 1842592042 scopus 로고    scopus 로고
    • Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
    • van Wijk, E., Pennings, R. J., te, B. H. et al. (2004) Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am. J. Hum. Genet. 74, 738-744.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 738-744
    • van Wijk, E.1    Pennings, R.J.2    Te, B.H.3
  • 80
    • 33144483550 scopus 로고    scopus 로고
    • 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. 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
  • 81
    • 57649205375 scopus 로고    scopus 로고
    • 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. 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
  • 82
    • 0014561109 scopus 로고
    • Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey
    • Vernon, M. (1969) Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J. Chronic. Dis. 22, 133-151.
    • (1969) J. Chronic. Dis. , vol.22 , pp. 133-151
    • Vernon, M.1
  • 83
    • 0033816925 scopus 로고    scopus 로고
    • A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
    • Verpy, E., Leibovici, M., Zwaenepoel, I. et al. (2000) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat. Genet. 26, 51-55.
    • (2000) Nat. Genet. , vol.26 , pp. 51-55
    • Verpy, E.1    Leibovici, M.2    Zwaenepoel, I.3
  • 84
    • 0001645884 scopus 로고
    • Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut
    • von Graefe, A. (1858) Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Archiv für Ophthalmologie 4, 250-253.
    • (1858) Archiv für Ophthalmologie , vol.4 , pp. 250-253
    • von Graefe, A.1
  • 85
    • 0031048269 scopus 로고    scopus 로고
    • Presynaptic bodies ("ribbons"): from ultrastructural observations to molecular perspectives
    • Wagner, H. J. (1997) Presynaptic bodies ("ribbons"): from ultrastructural observations to molecular perspectives. Cell Tissue Res. 287, 435-446.
    • (1997) Cell Tissue Res. , vol.287 , pp. 435-446
    • Wagner, H.J.1
  • 86
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • Weil, D., Blanchard, S., Kaplan, J. et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374, 60-61.
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1    Blanchard, S.2    Kaplan, J.3
  • 87
    • 0037341463 scopus 로고    scopus 로고
    • 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. 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    Amraoui, E.A.2    Masmoudi, S.3
  • 88
    • 0842328857 scopus 로고    scopus 로고
    • Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
    • Weston, M. D., Luijendijk, M. W., Humphrey, K. D., Moller, C., Kimberling, W. J. (2004) Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am. J. Hum. Genet. 74, 357-366.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 357-366
    • Weston, M.D.1    Luijendijk, M.W.2    Humphrey, K.D.3    Moller, C.4    Kimberling, W.J.5
  • 89
    • 38749124706 scopus 로고    scopus 로고
    • Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy
    • Williams, D. S. (2008) Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 48, 433-441.
    • (2008) Vision Res. , vol.48 , pp. 433-441
    • Williams, D.S.1
  • 91
    • 0348162563 scopus 로고    scopus 로고
    • The cellular function of the Usher gene product myosin VIIa is specified by its ligands
    • Wolfrum, U. (2003) The cellular function of the Usher gene product myosin VIIa is specified by its ligands. Adv. Exp. Med. Biol. 533, 133-142.
    • (2003) Adv. Exp. Med. Biol. , vol.533 , pp. 133-142
    • Wolfrum, U.1
  • 92
    • 0033938995 scopus 로고    scopus 로고
    • Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells
    • Wolfrum, U. and Schmitt, A. (2000) Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells. Cell Motil. Cytoskeleton 46, 95-107.
    • (2000) Cell Motil. Cytoskeleton , vol.46 , pp. 95-107
    • Wolfrum, U.1    Schmitt, A.2
  • 94
    • 77749239813 scopus 로고    scopus 로고
    • 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., 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. U.S.A 107, 4040-4045.
    • (2010) Proc. Natl. Acad. Sci. U.S.A , vol.107 , pp. 4040-4045
    • Yan, J.1    Pan, L.2    Chen, X.3    Wu, L.4    Zhang, M.5
  • 95
    • 77953213409 scopus 로고    scopus 로고
    • Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss
    • doi:10.1371/journal.pgen.1000955
    • Yang J., Liu X., Zhao Y. et al. (2010) Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet 6, e1000955. doi:10.1371/journal.pgen.1000955
    • (2010) PLoS Genet , vol.6
    • Yang, J.1    Liu, X.2    Zhao, Y.3
  • 96
    • 0017177041 scopus 로고
    • Visual cells and the concept of renewal
    • Young, R. W. (1976) Visual cells and the concept of renewal. Invest Ophthalmol. Vis. Sci. 15, 700-725.
    • (1976) Invest Ophthalmol. Vis. Sci. , vol.15 , pp. 700-725
    • Young, R.W.1
  • 97
    • 0030572505 scopus 로고    scopus 로고
    • Olfactory loss in Usher syndrome: another sensory deficit?
    • Zrada, S. E., Braat, K., Doty, R. L., Laties, A. M. (1996) Olfactory loss in Usher syndrome: another sensory deficit? Am. J. Med. Genet. 64, 602-603.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 602-603
    • Zrada, S.E.1    Braat, K.2    Doty, R.L.3    Laties, A.M.4
  • 98
    • 0033614037 scopus 로고    scopus 로고
    • The path to specificity
    • Zuker, C. S. and Ranganathan, R. (1999) The path to specificity. Science 283, 650-651.
    • (1999) Science , vol.283 , pp. 650-651
    • Zuker, C.S.1    Ranganathan, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.