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Volumn 27, Issue 1, 2012, Pages 25-42

Structures of usher syndrome 1 proteins and their complexes

Author keywords

[No Author keywords available]

Indexed keywords

NERVE PROTEIN;

EID: 84863063277     PISSN: 15489213     EISSN: 15489221     Source Type: Journal    
DOI: 10.1152/physiol.00037.2011     Document Type: Review
Times cited : (42)

References (131)
  • 5
    • 0043244878 scopus 로고    scopus 로고
    • The molecular genetics of Usher syndrome
    • Ahmed ZM, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet 63: 431-444, 2003.
    • (2003) Clin Genet , vol.63 , pp. 431-444
    • Ahmed, Z.M.1    Riazuddin, S.2    Wilcox, E.R.3
  • 7
    • 0035159856 scopus 로고    scopus 로고
    • The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
    • Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet 27: 99-102, 2001.
    • (2001) Nat Genet , vol.27 , pp. 99-102
    • Alagramam, K.N.1    Murcia, C.L.2    Kwon, H.Y.3    Pawlowski, K.S.4    Wright, C.G.5    Woychik, R.P.6
  • 9
    • 79953070455 scopus 로고    scopus 로고
    • Connecting the ear to the brain: Molecular mechanisms of auditory circuit assembly
    • Appler JM, Goodrich LV. Connecting the ear to the brain: molecular mechanisms of auditory circuit assembly. Prog Neurobiol 93: 488-508, 2011.
    • (2011) Prog Neurobiol , vol.93 , pp. 488-508
    • Appler, J.M.1    Goodrich, L.V.2
  • 11
    • 77956146403 scopus 로고    scopus 로고
    • Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids
    • Bahloul A, Michel V, Hardelin JP, Nouaille S, Hoos S, Houdusse A, England P, Petit C. Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet 19: 3557-3565, 2010.
    • (2010) Hum Mol Genet , vol.19 , pp. 3557-3565
    • Bahloul, A.1    Michel, V.2    Hardelin, J.P.3    Nouaille, S.4    Hoos, S.5    Houdusse, A.6    England, P.7    Petit, C.8
  • 12
    • 0018101150 scopus 로고
    • Models for the specific adhesion of cells to cells
    • Bell GI. Models for the specific adhesion of cells to cells. Science 200: 618-627, 1978.
    • (1978) Science , vol.200 , pp. 618-627
    • Bell, G.I.1
  • 13
    • 65549128486 scopus 로고    scopus 로고
    • Localization of inner hair cell mechanotransducer channels using high-speed calcium imaging
    • Beurg M, Fettiplace R, Nam JH, Ricci AJ. Localization of inner hair cell mechanotransducer channels using high-speed calcium imaging. Nat Neurosci 12: 553-558, 2009.
    • (2009) Nat Neurosci , vol.12 , pp. 553-558
    • Beurg, M.1    Fettiplace, R.2    Nam, J.H.3    Ricci, A.J.4
  • 19
    • 0020619770 scopus 로고
    • Usher syndrome: Definition and estimate of prevalence from two high-risk populations
    • Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 36: 595-603, 1983.
    • (1983) J Chronic Dis , vol.36 , pp. 595-603
    • Boughman, J.A.1    Vernon, M.2    Shaver, K.A.3
  • 21
    • 0020633119 scopus 로고
    • Kinetics of the receptor current in bullfrog saccular hair cells
    • Corey DP, Hudspeth AJ. Kinetics of the receptor current in bullfrog saccular hair cells. J Neurosci 3: 962-976, 1983.
    • (1983) J Neurosci , vol.3 , pp. 962-976
    • Corey, D.P.1    Hudspeth, A.J.2
  • 22
    • 0032524629 scopus 로고    scopus 로고
    • PDZ proteins organize synaptic signaling pathways
    • Craven SE, Bredt DS. PDZ proteins organize synaptic signaling pathways. Cell 93: 495-498, 1998.
    • (1998) Cell , vol.93 , pp. 495-498
    • Craven, S.E.1    Bredt, D.S.2
  • 23
    • 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 RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K. 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.
    • (2001) Nat Genet , vol.27 , pp. 103-107
    • Palma, F.D.1    Holme, R.H.2    Bryda, E.C.3    Belyantseva, I.A.4    Pellegrino, R.5    Kachar, B.6    Steel, K.P.7    Noben-Trauth, K.8
  • 24
    • 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, Petit C. 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.
    • (2005) J Cell Sci , vol.118 , pp. 4593-4603
    • El-Amraoui, A.1    Petit, C.2
  • 25
    • 77953759704 scopus 로고    scopus 로고
    • Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members
    • Elledge HM, Kazmierczak P, Clark P, Joseph JS, Kolatkar A, Kuhn P, Muller U. Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members. Proc Natl Acad Sci USA 107: 10708-10712, 2010.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 10708-10712
    • Elledge, H.M.1    Kazmierczak, P.2    Clark, P.3    Joseph, J.S.4    Kolatkar, A.5    Kuhn, P.6    Muller, U.7
  • 27
    • 34548599699 scopus 로고    scopus 로고
    • Shroom2, a myosin-VIIaand actin-binding protein, directly interacts with ZO-1 at tight junctions
    • Etournay R, Zwaenepoel I, Perfettini I, Legrain P, Petit C, El-Amraoui A. Shroom2, a myosin-VIIaand actin-binding protein, directly interacts with ZO-1 at tight junctions. J Cell Sci 120: 2838-2850, 2007.
    • (2007) J Cell Sci , vol.120 , pp. 2838-2850
    • Etournay, R.1    Zwaenepoel, I.2    Perfettini, I.3    Legrain, P.4    Petit, C.5    El-Amraoui, A.6
  • 29
    • 58549092371 scopus 로고    scopus 로고
    • Organization and dynamics of PDZ-domain-related supramodules in the postsynaptic density
    • Feng W, Zhang M. Organization and dynamics of PDZ-domain-related supramodules in the postsynaptic density. Nat Rev Neurosci 10: 87-99, 2009.
    • (2009) Nat Rev Neurosci , vol.10 , pp. 87-99
    • Feng, W.1    Zhang, M.2
  • 30
    • 29244448344 scopus 로고    scopus 로고
    • The sensory and motor roles of auditory hair cells
    • Fettiplace R, Hackney CM. The sensory and motor roles of auditory hair cells. Nat Rev Neurosci 7: 19-29, 2006.
    • (2006) Nat Rev Neurosci , vol.7 , pp. 19-29
    • Fettiplace, R.1    Hackney, C.M.2
  • 33
    • 36049032213 scopus 로고    scopus 로고
    • Molecular evolution of the vertebrate mechanosensory cell and ear
    • Fritzsch B, Beisel KW, Pauley S, Soukup G. Molecular evolution of the vertebrate mechanosensory cell and ear. Int J Dev Biol 51: 663-678, 2007.
    • (2007) Int J Dev Biol , vol.51 , pp. 663-678
    • Fritzsch, B.1    Beisel, K.W.2    Pauley, S.3    Soukup, G.4
  • 35
    • 0021831105 scopus 로고
    • Cross-links between stereocilia in the guinea pig cochlea
    • Furness DN, Hackney CM. Cross-links between stereocilia in the guinea pig cochlea. Hear Res 18: 177-188, 1985.
    • (1985) Hear Res , vol.18 , pp. 177-188
    • Furness, D.N.1    Hackney, C.M.2
  • 36
    • 46749092031 scopus 로고    scopus 로고
    • The dimensions and composition of stereociliary rootlets in mammalian cochlear hair cells: Comparison between highand low-frequency cells and evidence for a connection to the lateral membrane
    • Furness DN, Mahendrasingam S, Ohashi M, Fettiplace R, Hackney CM. The dimensions and composition of stereociliary rootlets in mammalian cochlear hair cells: comparison between highand low-frequency cells and evidence for a connection to the lateral membrane. J Neurosci 28: 6342-6353, 2008.
    • (2008) J Neurosci , vol.28 , pp. 6342-6353
    • Furness, D.N.1    Mahendrasingam, S.2    Ohashi, M.3    Fettiplace, R.4    Hackney, C.M.5
  • 37
    • 0141765843 scopus 로고    scopus 로고
    • Developmental acquisition of sensory transduction in hair cells of the mouse inner ear
    • Geleoc GS, Holt JR. Developmental acquisition of sensory transduction in hair cells of the mouse inner ear. Nat Neurosci 6: 1019-1020, 2003.
    • (2003) Nat Neurosci , vol.6 , pp. 1019-1020
    • Geleoc, G.S.1    Holt, J.R.2
  • 38
    • 70349448090 scopus 로고    scopus 로고
    • Mechanotransduction by hair cells: Models, molecules, and mechanisms
    • Gillespie PG, Muller U. Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell 139: 33-44, 2009.
    • (2009) Cell , vol.139 , pp. 33-44
    • Gillespie, P.G.1    Muller, U.2
  • 39
    • 0035855845 scopus 로고    scopus 로고
    • Molecular basis of mechanosensory transduction
    • Gillespie PG, Walker RG. Molecular basis of mechanosensory transduction. Nature 413: 194-202, 2001.
    • (2001) Nature , vol.413 , pp. 194-202
    • Gillespie, P.G.1    Walker, R.G.2
  • 40
    • 77957918022 scopus 로고    scopus 로고
    • Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells
    • Goodyear RJ, Forge A, Legan PK, Richardson GP. Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells. J Comp Neurol 518: 4288-4297, 2010.
    • (2010) J Comp Neurol , vol.518 , pp. 4288-4297
    • Goodyear, R.J.1    Forge, A.2    Legan, P.K.3    Richardson, G.P.4
  • 41
    • 16844368993 scopus 로고    scopus 로고
    • Development and properties of stereociliary link types in hair cells of the mouse cochlea
    • Goodyear RJ, Marcotti W, Kros CJ, Richardson GP. Development and properties of stereociliary link types in hair cells of the mouse cochlea. J Comp Neurol 485: 75-85, 2005.
    • (2005) J Comp Neurol , vol.485 , pp. 75-85
    • Goodyear, R.J.1    Marcotti, W.2    Kros, C.J.3    Richardson, G.P.4
  • 42
    • 79960999113 scopus 로고    scopus 로고
    • Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction
    • Grati M, Kachar B. Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proc Natl Acad Sci USA 108: 11476-11481, 2011.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 11476-11481
    • Grati, M.1    Kachar, B.2
  • 49
    • 69449106560 scopus 로고    scopus 로고
    • Function and expression pattern of nonsyndromic deafness genes
    • Hilgert N, Smith RJ, Van Camp G. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med 9: 546-564, 2009.
    • (2009) Curr Mol Med , vol.9 , pp. 546-564
    • Hilgert, N.1    Smith, R.J.2    van Camp, G.3
  • 51
    • 0024002893 scopus 로고
    • Compliance of the hair bundle associated with gating of mechanoelectrical transduction channels in the bullfrog's saccular hair cell
    • Howard J, Hudspeth AJ. Compliance of the hair bundle associated with gating of mechanoelectrical transduction channels in the bullfrog's saccular hair cell. Neuron 1: 189-199, 1988.
    • (1988) Neuron , vol.1 , pp. 189-199
    • Howard, J.1    Hudspeth, A.J.2
  • 52
    • 0024433313 scopus 로고
    • How the ear's works work
    • Hudspeth AJ. How the ear's works work. Nature 341: 397-404, 1989.
    • (1989) Nature , vol.341 , pp. 397-404
    • Hudspeth, A.J.1
  • 53
    • 49849096118 scopus 로고    scopus 로고
    • Making an effort to listen: Mechanical amplification in the ear
    • Hudspeth AJ. Making an effort to listen: mechanical amplification in the ear. Neuron 59: 530-545, 2008.
    • (2008) Neuron , vol.59 , pp. 530-545
    • Hudspeth, A.J.1
  • 54
    • 0038075324 scopus 로고    scopus 로고
    • Characterization of the motor activity of mammalian myosin VIIA
    • Inoue A, Ikebe M. Characterization of the motor activity of mammalian myosin VIIA. J Biol Chem 278: 5478-5487, 2003.
    • (2003) J Biol Chem , vol.278 , pp. 5478-5487
    • Inoue, A.1    Ikebe, M.2
  • 56
    • 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 KR, Gagnon LH, Webb LS, Peters LL, Hawes NL, Chang B, Zheng QY. 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.
    • (2003) Hum Mol Genet , vol.12 , pp. 3075-3086
    • Johnson, K.R.1    Gagnon, L.H.2    Webb, L.S.3    Peters, L.L.4    Hawes, N.L.5    Chang, B.6    Zheng, Q.Y.7
  • 58
    • 36048968147 scopus 로고    scopus 로고
    • Shaping the mammalian auditory sensory organ by the planar cell polarity pathway
    • Kelly M, Chen P. Shaping the mammalian auditory sensory organ by the planar cell polarity pathway. Int J Dev Biol 51: 535-547, 2007.
    • (2007) Int J Dev Biol , vol.51 , pp. 535-547
    • Kelly, M.1    Chen, P.2
  • 62
    • 79959252972 scopus 로고    scopus 로고
    • Forces between clustered stereocilia minimize friction in the ear on a subnanometre scale
    • Kozlov AS, Baumgart J, Risler T, Versteegh CP, Hudspeth AJ. Forces between clustered stereocilia minimize friction in the ear on a subnanometre scale. Nature 474: 376-379, 2011.
    • (2011) Nature , vol.474 , pp. 376-379
    • Kozlov, A.S.1    Baumgart, J.2    Risler, T.3    Versteegh, C.P.4    Hudspeth, A.J.5
  • 63
    • 33845877441 scopus 로고    scopus 로고
    • Coherent motion of stereocilia assures the concerted gating of hair-cell transduction channels
    • Kozlov AS, Risler T, Hudspeth AJ. Coherent motion of stereocilia assures the concerted gating of hair-cell transduction channels. Nat Neurosci 10: 87-92, 2007.
    • (2007) Nat Neurosci , vol.10 , pp. 87-92
    • Kozlov, A.S.1    Risler, T.2    Hudspeth, A.J.3
  • 64
    • 33749019339 scopus 로고    scopus 로고
    • Usher syndrome: Molecular links of pathogenesis, proteins and pathways
    • Spec
    • Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R. Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 15, Spec No 2: R262-R270, 2006.
    • (2006) Hum Mol Genet , vol.15 , Issue.2
    • Kremer, H.1    van Wijk, E.2    Marker, T.3    Wolfrum, U.4    Roepman, R.5
  • 66
    • 23044506137 scopus 로고    scopus 로고
    • Functional analysis of Slac2-c/MyRIP as a linker protein between melanosomes and myosin VIIa
    • Kuroda TS, Fukuda M. Functional analysis of Slac2-c/MyRIP as a linker protein between melanosomes and myosin VIIa. J Biol Chem 280: 28015-28022, 2005.
    • (2005) J Biol Chem , vol.280 , pp. 28015-28022
    • Kuroda, T.S.1    Fukuda, M.2
  • 67
    • 18844448958 scopus 로고    scopus 로고
    • Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development
    • Lagziel A, Ahmed ZM, Schultz JM, Morell RJ, Belyantseva IA, Friedman TB. Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol 280: 295-306, 2005.
    • (2005) Dev Biol , vol.280 , pp. 295-306
    • Lagziel, A.1    Ahmed, Z.M.2    Schultz, J.M.3    Morell, R.J.4    Belyantseva, I.A.5    Friedman, T.B.6
  • 68
    • 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
    • Lefevre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, Hardelin JP, Petit C. 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.
    • (2008) Development , vol.135 , pp. 1427-1437
    • Lefevre, G.1    Michel, V.2    Weil, D.3    Lepelletier, L.4    Bizard, E.5    Wolfrum, U.6    Hardelin, J.P.7    Petit, C.8
  • 69
    • 33845934490 scopus 로고    scopus 로고
    • Ankyrin repeat: A unique motif mediating protein-protein interactions
    • Li J, Mahajan A, Tsai MD. Ankyrin repeat: a unique motif mediating protein-protein interactions. Biochemistry 45: 15168-15178, 2006.
    • (2006) Biochemistry , vol.45 , pp. 15168-15178
    • Li, J.1    Mahajan, A.2    Tsai, M.D.3
  • 71
    • 0035901599 scopus 로고    scopus 로고
    • Cell adhesion: Ushering in a new understanding of myosin VII
    • Maniak M. Cell adhesion: ushering in a new understanding of myosin VII. Curr Biol 11: R315-R317, 2001.
    • (2001) Curr Biol , vol.11
    • Maniak, M.1
  • 76
    • 50849144332 scopus 로고    scopus 로고
    • Cadherins and mechanotransduction by hair cells
    • Muller U. Cadherins and mechanotransduction by hair cells. Curr Opin Cell Biol 20: 557-566, 2008.
    • (2008) Curr Opin Cell Biol , vol.20 , pp. 557-566
    • Muller, U.1
  • 79
    • 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. Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. Proc Natl Acad Sci USA 106: 5575-5580, 2009.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 5575-5580
    • Pan, L.1    Yan, J.2    Wu, L.3    Zhang, M.4
  • 81
    • 0037038867 scopus 로고    scopus 로고
    • From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)
    • Pennings RJ, Kremer H, Deutman AF, Kimberling WJ, Cremers CW. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)]. Ned Tijdschr Geneeskd 146: 2354-2358, 2002.
    • (2002) Ned Tijdschr Geneeskd , vol.146 , pp. 2354-2358
    • Pennings, R.J.1    Kremer, H.2    Deutman, A.F.3    Kimberling, W.J.4    Cremers, C.W.5
  • 82
    • 0035775666 scopus 로고    scopus 로고
    • Usher syndrome: From genetics to pathogenesis
    • Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet 2: 271-297, 2001.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 271-297
    • Petit, C.1
  • 83
    • 66749156456 scopus 로고    scopus 로고
    • Linking genes underlying deafness to hair-bundle development and function
    • Petit C, Richardson GP. Linking genes underlying deafness to hair-bundle development and function. Nat Neurosci 12: 703-710, 2009.
    • (2009) Nat Neurosci , vol.12 , pp. 703-710
    • Petit, C.1    Richardson, G.P.2
  • 84
    • 0021179678 scopus 로고
    • Cross-links between stereocilia in the guinea pig organ of Corti, and their possible relation to sensory transduction
    • Pickles JO, Comis SD, Osborne MP. Cross-links between stereocilia in the guinea pig organ of Corti, and their possible relation to sensory transduction. Hear Res 15: 103-112, 1984.
    • (1984) Hear Res , vol.15 , pp. 103-112
    • Pickles, J.O.1    Comis, S.D.2    Osborne, M.P.3
  • 85
    • 35548932457 scopus 로고    scopus 로고
    • Structure and mechanism of cadherins and catenins in cell-cell contacts
    • Pokutta S, Weis WI. Structure and mechanism of cadherins and catenins in cell-cell contacts. Annu Rev Cell Dev Biol 23: 237-261, 2007.
    • (2007) Annu Rev Cell Dev Biol , vol.23 , pp. 237-261
    • Pokutta, S.1    Weis, W.I.2
  • 86
    • 30344442873 scopus 로고    scopus 로고
    • The many faces of SAM
    • 2005
    • Qiao F, Bowie JU. The many faces of SAM. Sci STKE 2005: re7, 2005.
    • (2005) Sci STKE
    • Qiao, F.1    Bowie, J.U.2
  • 87
    • 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. 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.
    • (2005) Mol Vis , vol.11 , pp. 347-355
    • Reiners, J.1    Marker, T.2    Jurgens, K.3    Reidel, B.4    Wolfrum, U.5
  • 88
    • 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, Jurgens K, Marker T, Wolfrum U. 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.
    • (2006) Exp Eye Res , vol.83 , pp. 97-119
    • Reiners, J.1    Nagel-Wolfrum, K.2    Jurgens, K.3    Marker, T.4    Wolfrum, U.5
  • 89
    • 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, Boeda B, Huber I, Petit C, Wolfrum U. Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest Ophthalmol Vis Sci 44: 5006-5015, 2003.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 5006-5015
    • Reiners, J.1    Reidel, B.2    El-Amraoui, A.3    Boeda, B.4    Huber, I.5    Petit, C.6    Wolfrum, U.7
  • 91
    • 33646884877 scopus 로고    scopus 로고
    • Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome
    • Reiners J, Wolfrum U. Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome. Adv Exp Med Biol 572: 349-353, 2006.
    • (2006) Adv Exp Med Biol , vol.572 , pp. 349-353
    • Reiners, J.1    Wolfrum, U.2
  • 92
    • 79951782264 scopus 로고    scopus 로고
    • How the genetics of deafness illuminates auditory physiology
    • Richardson GP, de Monvel JB, Petit C. How the genetics of deafness illuminates auditory physiology. Annu Rev Physiol 73: 311-334, 2011.
    • (2011) Annu Rev Physiol , vol.73 , pp. 311-334
    • Richardson, G.P.1    de Monvel, J.B.2    Petit, C.3
  • 93
    • 38449090748 scopus 로고    scopus 로고
    • Protein networks and complexes in photoreceptor cilia
    • Roepman R, Wolfrum U. Protein networks and complexes in photoreceptor cilia. Subcell Biochem 43: 209-235, 2007.
    • (2007) Subcell Biochem , vol.43 , pp. 209-235
    • Roepman, R.1    Wolfrum, U.2
  • 94
    • 0030922189 scopus 로고    scopus 로고
    • The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
    • Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 51: 314-321, 1997.
    • (1997) Clin Genet , vol.51 , pp. 314-321
    • Rosenberg, T.1    Haim, M.2    Hauch, A.M.3    Parving, A.4
  • 95
    • 79955550621 scopus 로고    scopus 로고
    • Cargo binding activates myosin VIIA motor function in cells
    • Sakai T, Umeki N, Ikebe R, Ikebe M. Cargo binding activates myosin VIIA motor function in cells. Proc Natl Acad Sci USA 108: 7028-7033, 2011.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 7028-7033
    • Sakai, T.1    Umeki, N.2    Ikebe, R.3    Ikebe, M.4
  • 96
    • 0031884319 scopus 로고    scopus 로고
    • Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
    • Self T, Mahony M, Fleming J, Walsh J, Brown SD, Steel KP. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 125: 557-566, 1998.
    • (1998) Development , vol.125 , pp. 557-566
    • Self, T.1    Mahony, M.2    Fleming, J.3    Walsh, J.4    Brown, S.D.5    Steel, K.P.6
  • 101
    • 77951892218 scopus 로고    scopus 로고
    • Structural determinants of cadherin-23 function in hearing and deafness
    • Sotomayor M, Weihofen WA, Gaudet R, Corey DP. Structural determinants of cadherin-23 function in hearing and deafness. Neuron 66: 85-100, 2010.
    • (2010) Neuron , vol.66 , pp. 85-100
    • Sotomayor, M.1    Weihofen, W.A.2    Gaudet, R.3    Corey, D.P.4
  • 102
    • 2942549121 scopus 로고    scopus 로고
    • Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells
    • Sousa S, Cabanes D, El-Amraoui A, Petit C, Lecuit M, Cossart P. Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells. J Cell Sci 117: 2121-2130, 2004.
    • (2004) J Cell Sci , vol.117 , pp. 2121-2130
    • Sousa, S.1    Cabanes, D.2    El-Amraoui, A.3    Petit, C.4    Lecuit, M.5    Cossart, P.6
  • 103
    • 0032819810 scopus 로고    scopus 로고
    • Cadherins and their connections: Adhesion junctions have broader functions
    • Steinberg MS, McNutt PM. Cadherins and their connections: adhesion junctions have broader functions. Curr Opin Cell Biol 11: 554-560, 1999.
    • (1999) Curr Opin Cell Biol , vol.11 , pp. 554-560
    • Steinberg, M.S.1    McNutt, P.M.2
  • 104
    • 33144483509 scopus 로고    scopus 로고
    • Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary nonsyndromic recessive hearing loss
    • Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary nonsyndromic recessive hearing loss. Hum Mutat 25: 503, 2005.
    • (2005) Hum Mutat , vol.25 , pp. 503
    • Tlili, A.1    Charfedine, I.2    Lahmar, I.3    Benzina, Z.4    Mohamed, B.A.5    Weil, D.6    Idriss, N.7    Drira, M.8    Masmoudi, S.9    Ayadi, H.10
  • 106
    • 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 RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. 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.
    • (2004) Am J Hum Genet , vol.74 , pp. 738-744
    • van Wijk, E.1    Pennings, R.J.2    te Brinke, H.3    Claassen, A.4    Yntema, H.G.5    Hoefsloot, L.H.6    Cremers, F.P.7    Cremers, C.W.8    Kremer, H.9
  • 109
    • 34547700102 scopus 로고    scopus 로고
    • The micromachinery of mechanotransduction in hair cells
    • Vollrath MA, Kwan KY, Corey DP. The micromachinery of mechanotransduction in hair cells. Annu Rev Neurosci 30: 339-365, 2007.
    • (2007) Annu Rev Neurosci , vol.30 , pp. 339-365
    • Vollrath, M.A.1    Kwan, K.Y.2    Corey, D.P.3
  • 110
    • 55849129585 scopus 로고    scopus 로고
    • Human hereditary hearing impairment: Mouse models can help to solve the puzzle
    • Vrijens K, Van Laer L, Van Camp G. Human hereditary hearing impairment: mouse models can help to solve the puzzle. Hum Genet 124: 325-348, 2008.
    • (2008) Hum Genet , vol.124 , pp. 325-348
    • Vrijens, K.1    van Laer, L.2    van Camp, G.3
  • 112
    • 79952761581 scopus 로고    scopus 로고
    • Cargo recognition mechanism of myosin X revealed by the structure of its tail MyTH4-FERM tandem in complex with the DCC P3 domain
    • Wei Z, Yan J, Lu Q, Pan L, Zhang M. Cargo recognition mechanism of myosin X revealed by the structure of its tail MyTH4-FERM tandem in complex with the DCC P3 domain. Proc Natl Acad Sci USA 108: 3572-3577, 2011.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 3572-3577
    • Wei, Z.1    Yan, J.2    Lu, Q.3    Pan, L.4    Zhang, M.5
  • 117
    • 0842328857 scopus 로고    scopus 로고
    • Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
    • Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ. 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.
    • (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
  • 118
    • 0141651204 scopus 로고    scopus 로고
    • Cadherins as modulators of cellular phenotype
    • Wheelock MJ, Johnson KR. Cadherins as modulators of cellular phenotype. Annu Rev Cell Dev Biol 19: 207-235, 2003.
    • (2003) Annu Rev Cell Dev Biol , vol.19 , pp. 207-235
    • Wheelock, M.J.1    Johnson, K.R.2
  • 119
    • 38749124706 scopus 로고    scopus 로고
    • Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
    • Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res 48: 433-441, 2008.
    • (2008) Vision Res , vol.48 , pp. 433-441
    • Williams, D.S.1
  • 121
    • 0348162563 scopus 로고    scopus 로고
    • The cellular function of the usher gene product myosin VIIa is specified by its ligands
    • Wolfrum U. The cellular function of the usher gene product myosin VIIa is specified by its ligands. Adv Exp Med Biol 533: 133-142, 2003.
    • (2003) Adv Exp Med Biol , vol.533 , pp. 133-142
    • Wolfrum, U.1
  • 122
    • 79951506483 scopus 로고    scopus 로고
    • Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo
    • Wu L, Pan L, Wei Z, Zhang M. Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. Science 331: 757-760, 2011.
    • (2011) Science , vol.331 , pp. 757-760
    • Wu, L.1    Pan, L.2    Wei, Z.3    Zhang, M.4
  • 123
    • 56149115057 scopus 로고    scopus 로고
    • MAGI-1, a candidate stereociliary scaffolding protein, associates with the tip-link component cadherin 23
    • Xu Z, Peng AW, Oshima K, Heller S. MAGI-1, a candidate stereociliary scaffolding protein, associates with the tip-link component cadherin 23. J Neurosci 28: 11269-11276, 2008.
    • (2008) J Neurosci , vol.28 , pp. 11269-11276
    • Xu, Z.1    Peng, A.W.2    Oshima, K.3    Heller, S.4
  • 124
    • 79251538069 scopus 로고    scopus 로고
    • Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice
    • Yan D, Kamiya K, Ouyang XM, Liu XZ. Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice. Int J Exp Pathol 92: 66-71, 2011.
    • (2011) Int J Exp Pathol , vol.92 , pp. 66-71
    • Yan, D.1    Kamiya, K.2    Ouyang, X.M.3    Liu, X.Z.4
  • 125
    • 77954161995 scopus 로고    scopus 로고
    • Genetics and pathological mechanisms of Usher syndrome
    • Yan D, Liu XZ. Genetics and pathological mechanisms of Usher syndrome. J Hum Genet 55: 327-335, 2010.
    • (2010) J Hum Genet , vol.55 , pp. 327-335
    • Yan, D.1    Liu, X.Z.2
  • 126
    • 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. 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.
    • (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
  • 130
    • 0037493100 scopus 로고    scopus 로고
    • Organization of signaling complexes by PDZ-domain scaffold proteins
    • Zhang M, Wang W. Organization of signaling complexes by PDZ-domain scaffold proteins. Acc Chem Res 36: 530-538, 2003.
    • (2003) Acc Chem Res , vol.36 , pp. 530-538
    • Zhang, M.1    Wang, W.2
  • 131
    • 77953048560 scopus 로고    scopus 로고
    • Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model
    • Zheng L, Zheng J, Whitlon DS, Garcia-Anoveros J, Bartles JR. Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model. J Neurosci 30: 7187-7201, 2010.
    • (2010) J Neurosci , vol.30 , pp. 7187-7201
    • Zheng, L.1    Zheng, J.2    Whitlon, D.S.3    Garcia-Anoveros, J.4    Bartles, J.R.5


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