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Volumn 24, Issue 1, 2016, Pages 17-25

Gene therapy restores hair cell stereocilia morphology in inner ears of deaf whirler mice

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL STRUCTURE; CELL SURVIVAL; CLINICAL EFFECTIVENESS; CONTROLLED STUDY; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE THERAPY; HAIR CELL; HEARING; HEARING IMPAIRMENT; IMMUNOHISTOCHEMISTRY; IN VIVO STUDY; INNER EAR; MOUSE; MOUSE MUTANT; NEWBORN; NONHUMAN; SCANNING ELECTRON MICROSCOPY; STEREOCILIUM; WHIRLER MICE; WILD TYPE; ADMINISTRATION AND DOSAGE; ANIMAL; CYTOLOGY; DEAFNESS; DEPENDOPARVOVIRUS; DISEASE MODEL; GENE VECTOR; GENETICS; HUMAN; INNER HAIR CELL; METABOLISM; PATHOLOGY; PROCEDURES; TREATMENT OUTCOME; ULTRASTRUCTURE;

EID: 84957841732     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2015.150     Document Type: Article
Times cited : (80)

References (32)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton, NE (1991). Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630: 16-31
    • (1991) Ann N y Acad Sci , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 2
    • 80055117714 scopus 로고    scopus 로고
    • Hereditary hearing loss: From human mutation to mechanism
    • Lenz, DR and Avraham, KB (2011). Hereditary hearing loss: from human mutation to mechanism. Hear Res 281: 3-10
    • (2011) Hear Res , vol.281 , pp. 3-10
    • Lenz, D.R.1    Avraham, K.B.2
  • 4
    • 79951782264 scopus 로고    scopus 로고
    • How the genetics of deafness illuminates auditory physiology
    • Richardson, GP, De Monvel, JB and Petit, C (2011). How the genetics of deafness illuminates auditory physiology. Annu Rev Physiol 73: 311-334
    • (2011) Annu Rev Physiol , vol.73 , pp. 311-334
    • Richardson, G.P.1    De Monvel, J.B.2    Petit, C.3
  • 7
    • 84906712049 scopus 로고    scopus 로고
    • Chaperone-enhanced purification of unconventional myosin 15, a molecular motor specialized for stereocilia protein trafficking
    • Bird, JE, Takagi, Y, Billington, N, Strub, MP, Sellers, JR and Friedman, TB (2014). Chaperone-enhanced purification of unconventional myosin 15, a molecular motor specialized for stereocilia protein trafficking. Proc Natl Acad Sci USA 111: 12390-12395
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. 12390-12395
    • Bird, J.E.1    Takagi, Y.2    Billington, N.3    Strub, M.P.4    Sellers, J.R.5    Friedman, T.B.6
  • 8
    • 13944260197 scopus 로고    scopus 로고
    • Myosin-XVa is required for tip localization of whirlin and differential elongation of haircell stereocilia
    • Belyantseva, IA, Boger, ET, Naz, S, Frolenkov, GI, Sellers, JR, Ahmed, ZM., et al. (2005). Myosin-XVa is required for tip localization of whirlin and differential elongation of haircell stereocilia. Nat Cell Biol 7: 148-156
    • (2005) Nat Cell Biol , vol.7 , pp. 148-156
    • Belyantseva, I.A.1    Boger, E.T.2    Naz, S.3    Frolenkov, G.I.4    Sellers, J.R.5    Ahmed, Z.M.6
  • 9
    • 13544251711 scopus 로고    scopus 로고
    • Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
    • Delprat, B, Michel, V, Goodyear, R, Yamasaki, Y, Michalski, N, El-Amraoui, A., et al. (2005). Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet 14: 401-410
    • (2005) Hum Mol Genet , vol.14 , pp. 401-410
    • Delprat, B.1    Michel, V.2    Goodyear, R.3    Yamasaki, Y.4    Michalski, N.5    El-Amraoui, A.6
  • 10
    • 79151470659 scopus 로고    scopus 로고
    • Regulation of stereocilia length by myosin XVa and whirlin depends on the actinregulatory protein Eps8
    • Manor, U, Disanza, A, Grati, M, Andrade, L, Lin, H, Di Fiore, PP., et al. (2011). Regulation of stereocilia length by myosin XVa and whirlin depends on the actinregulatory protein Eps8. Curr Biol 21: 167-172
    • (2011) Curr Biol , vol.21 , pp. 167-172
    • Manor, U.1    Disanza, A.2    Grati, M.3    Andrade, L.4    Lin, H.5    Di Fiore, P.P.6
  • 11
    • 0028363436 scopus 로고
    • Linkage analysis of the whirler deafness gene on mouse chromosome 4
    • Fleming, J, Rogers, MJ, Brown, SD and Steel, KP (1994). Linkage analysis of the whirler deafness gene on mouse chromosome 4. Genomics 21: 42-48
    • (1994) Genomics , vol.21 , pp. 42-48
    • Fleming, J.1    Rogers, M.J.2    Brown, S.D.3    Steel, K.P.4
  • 12
    • 0043168114 scopus 로고    scopus 로고
    • Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    • Mburu, P, Mustapha, M, Varela, A, Weil, D, El-Amraoui, A, Holme, RH., et al. (2003). Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 34: 421-428
    • (2003) Nat Genet , vol.34 , pp. 421-428
    • Mburu, P.1    Mustapha, M.2    Varela, A.3    Weil, D.4    El-Amraoui, A.5    Holme, R.H.6
  • 13
    • 84862972357 scopus 로고    scopus 로고
    • Whirlin interacts with espin and modulates its actin-regulatory function: An insight into the mechanism of Usher syndrome type II.
    • Wang, L, Zou, J, Shen, Z, Song, E and Yang, J (2012). Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. Hum Mol Genet 21: 692-710
    • (2012) Hum Mol Genet , vol.21 , pp. 692-710
    • Wang, L.1    Zou, J.2    Shen, Z.3    Song, E.4    Yang, J.5
  • 14
    • 84923024254 scopus 로고    scopus 로고
    • The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors
    • De Nooij, JC, Simon, CM, Simon, A, Doobar, S, Steel, KP, Banks, RW., et al. (2015). The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors. J Neurosci 35: 3073-3084
    • (2015) J Neurosci , vol.35 , pp. 3073-3084
    • De Nooij, J.C.1    Simon, C.M.2    Simon, A.3    Doobar, S.4    Kp, S.5    Banks, R.W.6
  • 16
    • 33947148611 scopus 로고    scopus 로고
    • A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    • Ebermann, I, Scholl, HP, Charbel Issa, P, Becirovic, E, Lamprecht, J, Jurklies, B., et al. (2007). A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 121: 203-211
    • (2007) Hum Genet , vol.121 , pp. 203-211
    • Ebermann, I.1    Scholl, H.P.2    Charbel Issa, P.3    Becirovic, E.4    Lamprecht, J.5    Jurklies, B.6
  • 17
    • 84867270247 scopus 로고    scopus 로고
    • Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
    • Grati, M, Shin, JB, Weston, MD, Green, J, Bhat, MA, Gillespie, PG., et al. (2012). Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J Neurosci 32: 14288-14293
    • (2012) J Neurosci , vol.32 , pp. 14288-14293
    • Grati, M.1    Shin, J.B.2    Weston, M.D.3    Green, J.4    Ma, B.5    Gillespie, P.G.6
  • 18
    • 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, Lef?re, G, Barral, J, Yagi, H., 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    Lefre, G.4    Barral, J.5    Yagi, H.6
  • 19
    • 13544276523 scopus 로고    scopus 로고
    • Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
    • Kikkawa, Y, Mburu, P, Morse, S, Kominami, R, Townsend, S and Brown, SD (2005). Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum Mol Genet 14: 391-400
    • (2005) Hum Mol Genet , vol.14 , pp. 391-400
    • Kikkawa, Y.1    Mburu, P.2    Morse, S.3    Kominami, R.4    Townsend, S.5    Brown, S.D.6
  • 20
    • 0000934577 scopus 로고
    • Whirler mice: A recessive behavior mutation in linkage group VIII
    • Lane, PW (1963). Whirler mice: a recessive behavior mutation in linkage group VIII. J Hered 54: 263-266
    • (1963) J Hered , vol.54 , pp. 263-266
    • Lane, P.W.1
  • 21
    • 0037068004 scopus 로고    scopus 로고
    • Elongation of hair cell stereocilia is defective in the mouse mutant whirler
    • Holme, RH, Kiernan, BW, Brown, SD and Steel, KP (2002). Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J Comp Neurol 450: 94-102
    • (2002) J Comp Neurol , vol.450 , pp. 94-102
    • Holme, R.H.1    Kiernan, B.W.2    Brown, S.D.3    Steel, K.P.4
  • 22
    • 34250366660 scopus 로고    scopus 로고
    • The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development
    • Mogensen, MM, Rzadzinska, A and Steel, KP (2007). The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motil Cytoskeleton 64: 496-508
    • (2007) Cell Motil Cytoskeleton , vol.64 , pp. 496-508
    • Mogensen, M.M.1    Rzadzinska, A.2    Steel, K.P.3
  • 24
    • 79958287787 scopus 로고    scopus 로고
    • Adenoassociated virus-mediated gene delivery into the scala media of the normal and deafened adult mouse ear
    • Kilpatrick, LA, Li, Q, Yang, J, Goddard, JC, Fekete, DM and Lang, H (2011). Adenoassociated virus-mediated gene delivery into the scala media of the normal and deafened adult mouse ear. Gene Ther 18: 569-578
    • (2011) Gene Ther , vol.18 , pp. 569-578
    • Kilpatrick, L.A.1    Li, Q.2    Yang, J.3    Goddard, J.C.4    Fekete, D.M.5    Lang, H.6
  • 26
    • 0001633148 scopus 로고    scopus 로고
    • Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
    • Zheng, QY, Johnson, KR and Erway, LC (1999). Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res 130: 94-107
    • (1999) Hear Res , vol.130 , pp. 94-107
    • Zheng, Q.Y.1    Johnson, K.R.2    Erway, L.C.3
  • 27
    • 84864297772 scopus 로고    scopus 로고
    • Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy
    • Akil, O, Seal, RP, Burke, K, Wang, C, Alemi, A, During, M., et al. (2012). Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy. Neuron 75: 283-293
    • (2012) Neuron , vol.75 , pp. 283-293
    • Akil, O.1    Seal, R.P.2    Burke, K.3    Wang, C.4    Alemi, A.5    During, M.6
  • 28
    • 84891740321 scopus 로고    scopus 로고
    • Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice
    • Yu, Q, Wang, Y, Chang, Q, Wang, J, Gong, S, Li, H., et al. (2014). Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice. Gene Ther 21: 71-80
    • (2014) Gene Ther , vol.21 , pp. 71-80
    • Yu, Q.1    Wang, Y.2    Chang, Q.3    Wang, J.4    Gong, S.5    Li, H.6
  • 29
    • 84944513553 scopus 로고    scopus 로고
    • Cochlear gene transfer mediated by adeno-associated virus: Comparison of two surgical approaches
    • epub ahead of print
    • Chien, WW, McDougald, DS, Roy, S, Fitzgerald, TS and Cunningham, LL (2015). Cochlear gene transfer mediated by adeno-associated virus: Comparison of two surgical approaches. Laryngoscope (epub ahead of print
    • (2015) Laryngoscope
    • Chien, W.W.1    McDougald, D.S.2    Roy, S.3    Fitzgerald, T.S.4    Cunningham, L.L.5
  • 30
    • 0034919532 scopus 로고    scopus 로고
    • Cochlear function and transgene expression in the Guinea pig cochlea, using adenovirus- and adenoassociated virus-directed gene transfer
    • Luebke, AE, Foster, PK, Muller, CD and Peel, AL (2001). Cochlear function and transgene expression in the guinea pig cochlea, using adenovirus- and adenoassociated virus-directed gene transfer. Hum Gene Ther 12: 773-781
    • (2001) Hum Gene Ther , vol.12 , pp. 773-781
    • Luebke, A.E.1    Foster, P.K.2    Muller, C.D.3    Peel, A.L.4
  • 31
    • 34248166003 scopus 로고    scopus 로고
    • Application of a corticosteroid (Triamcinolon) protects inner ear function after surgical intervention
    • Ye, Q, Tillein, J, Hartmann, R, Gstoettner, W and Kiefer, J (2007). Application of a corticosteroid (Triamcinolon) protects inner ear function after surgical intervention. Ear Hear 28: 361-369
    • (2007) Ear Hear , vol.28 , pp. 361-369
    • Ye, Q.1    Tillein, J.2    Hartmann, R.3    Gstoettner, W.4    Kiefer, J.5
  • 32
    • 8844286054 scopus 로고    scopus 로고
    • Cochlear function in Prestin knockout mice
    • Pt3
    • Cheatham, MA, Huynh, KH, Gao, J, Zuo, J and Dallos, P (2004). Cochlear function in Prestin knockout mice. J Physiol 560(Pt 3): 821-830
    • (2004) J Physiol , vol.560 , pp. 821-830
    • Ma, C.1    Huynh, K.H.2    Gao, J.3    Zuo, J.4    Dallos, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.