메뉴 건너뛰기




Volumn 11, Issue 1, 2016, Pages

Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development

Author keywords

Axon branching; Axon guidance; Axon transport; CMT2b; Endosome trafficking; Neurodegeneration; Rab7; Zebrafish

Indexed keywords

NEUROGENIN 1; RAB PROTEIN; RAB7 PROTEIN; ZEBRAFISH PROTEIN;

EID: 84958942600     PISSN: None     EISSN: 17498104     Source Type: Journal    
DOI: 10.1186/s13064-016-0058-x     Document Type: Article
Times cited : (39)

References (39)
  • 2
    • 70349941104 scopus 로고    scopus 로고
    • Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation
    • Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Levy N, et al. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain. 2009;132(Pt 10):2699-711. doi: 10.1093/brain/awp198.
    • (2009) Brain , vol.132 , pp. 2699-2711
    • Rotthier, A.1    Baets, J.2    Vriendt, E.3    Jacobs, A.4    Auer-Grumbach, M.5    Levy, N.6
  • 3
    • 33750312943 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene
    • Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F. Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. Neurology. 2006;67(8):1476-8. doi: 10.1212/01.wnl.0000240068.21499.f5.
    • (2006) Neurology , vol.67 , Issue.8 , pp. 1476-1478
    • Meggouh, F.1    Bienfait, H.M.2    Weterman, M.A.3    Visser, M.4    Baas, F.5
  • 4
    • 0037371509 scopus 로고    scopus 로고
    • Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
    • Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003;72(3):722-7. doi: 10.1086/367847.
    • (2003) Am J Hum Genet , vol.72 , Issue.3 , pp. 722-727
    • Verhoeven, K.1    Jonghe, P.2    Coen, K.3    Verpoorten, N.4    Auer-Grumbach, M.5    Kwon, J.M.6
  • 5
    • 4844231295 scopus 로고    scopus 로고
    • A novel RAB7 mutation associated with ulcero-mutilating neuropathy
    • Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, et al. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol. 2004;56(4):586-90. doi: 10.1002/ana.20281.
    • (2004) Ann Neurol , vol.56 , Issue.4 , pp. 586-590
    • Houlden, H.1    King, R.H.2    Muddle, J.R.3    Warner, T.T.4    Reilly, M.M.5    Orrell, R.W.6
  • 6
    • 84890426290 scopus 로고    scopus 로고
    • A Novel RAB7 Mutation in a Chinese Family with Charcot-Marie-Tooth type 2B disease
    • Wang X, Han C, Liu W, Wang P, Zhang X. A Novel RAB7 Mutation in a Chinese Family with Charcot-Marie-Tooth type 2B disease. Gene. 2013. doi: 10.1016/j.gene.2013.10.023.
    • (2013) Gene
    • Wang, X.1    Han, C.2    Liu, W.3    Wang, P.4    Zhang, X.5
  • 8
    • 84871903696 scopus 로고    scopus 로고
    • Maturation of autophagosomes and endosomes: a key role for Rab7
    • Hyttinen JM, Niittykoski M, Salminen A, Kaarniranta K. Maturation of autophagosomes and endosomes: a key role for Rab7. Biochim Biophys Acta. 2013;1833(3):503-10. doi: 10.1016/j.bbamcr.2012.11.018.
    • (2013) Biochim Biophys Acta , vol.1833 , Issue.3 , pp. 503-510
    • Hyttinen, J.M.1    Niittykoski, M.2    Salminen, A.3    Kaarniranta, K.4
  • 9
    • 28044444522 scopus 로고    scopus 로고
    • The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA
    • Saxena S, Bucci C, Weis J, Kruttgen A. The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. J Neurosci. 2005;25(47):10930-40. doi: 10.1523/JNEUROSCI.2029-05.2005.
    • (2005) J Neurosci , vol.25 , Issue.47 , pp. 10930-10940
    • Saxena, S.1    Bucci, C.2    Weis, J.3    Kruttgen, A.4
  • 10
    • 33749620373 scopus 로고    scopus 로고
    • Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway
    • Deinhardt K, Salinas S, Verastegui C, Watson R, Worth D, Hanrahan S, et al. Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway. Neuron. 2006;52(2):293-305. doi: 10.1016/j.neuron.2006.08.018.
    • (2006) Neuron , vol.52 , Issue.2 , pp. 293-305
    • Deinhardt, K.1    Salinas, S.2    Verastegui, C.3    Watson, R.4    Worth, D.5    Hanrahan, S.6
  • 11
    • 84876555190 scopus 로고    scopus 로고
    • Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling
    • Zhang K, Fishel Ben Kenan R, Osakada Y, Xu W, Sinit RS, Chen L, et al. Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling. J Neurosci. 2013;33(17):7451-62. doi: 10.1523/JNEUROSCI.4322-12.2013.
    • (2013) J Neurosci , vol.33 , Issue.17 , pp. 7451-7462
    • Zhang, K.1    Fishel Ben Kenan, R.2    Osakada, Y.3    Xu, W.4    Sinit, R.S.5    Chen, L.6
  • 12
    • 44649154996 scopus 로고    scopus 로고
    • Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B
    • De Luca A, Progida C, Spinosa MR, Alifano P, Bucci C. Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B. Biochem Biophys Res Commun. 2008;372(2):283-7. doi: 10.1016/j.bbrc.2008.05.060.
    • (2008) Biochem Biophys Res Commun , vol.372 , Issue.2 , pp. 283-287
    • Luca, A.1    Progida, C.2    Spinosa, M.R.3    Alifano, P.4    Bucci, C.5
  • 13
    • 39549098329 scopus 로고    scopus 로고
    • Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease
    • Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. J Neurosci. 2008;28(7):1640-8. doi: 10.1523/JNEUROSCI.3677-07.200828/7/1640.
    • (2008) J Neurosci , vol.28 , Issue.7 , pp. 1640-1648
    • Spinosa, M.R.1    Progida, C.2    Luca, A.3    Colucci, A.M.4    Alifano, P.5    Bucci, C.6
  • 14
    • 77950686629 scopus 로고    scopus 로고
    • Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation
    • McCray BA, Skordalakes E, Taylor JP. Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. Hum Mol Genet. 2010;19(6):1033-47. doi: 10.1093/hmg/ddp567.
    • (2010) Hum Mol Genet , vol.19 , Issue.6 , pp. 1033-1047
    • McCray, B.A.1    Skordalakes, E.2    Taylor, J.P.3
  • 15
    • 84890407183 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function
    • Cherry S, Jin EJ, Ozel MN, Lu Z, Agi E, Wang D, et al. Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function. Elife. 2013;2:e01064. doi: 10.7554/eLife.010642/0/e01064.
    • (2013) Elife , vol.2 , pp. e01064
    • Cherry, S.1    Jin, E.J.2    Ozel, M.N.3    Lu, Z.4    Agi, E.5    Wang, D.6
  • 16
    • 78650130133 scopus 로고    scopus 로고
    • Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling
    • BasuRay S, Mukherjee S, Romero E, Wilson MC, Wandinger-Ness A. Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling. PLoS One. 2010;5(12):e15351. doi: 10.1371/journal.pone.0015351.
    • (2010) PLoS One , vol.5 , Issue.12 , pp. e15351
    • BasuRay, S.1    Mukherjee, S.2    Romero, E.3    Wilson, M.C.4    Wandinger-Ness, A.5
  • 17
    • 78149353040 scopus 로고    scopus 로고
    • The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway
    • Yamauchi J, Torii T, Kusakawa S, Sanbe A, Nakamura K, Takashima S, et al. The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway. J Neurosci Res. 2010;88(14):3189-97. doi: 10.1002/jnr.22460.
    • (2010) J Neurosci Res , vol.88 , Issue.14 , pp. 3189-3197
    • Yamauchi, J.1    Torii, T.2    Kusakawa, S.3    Sanbe, A.4    Nakamura, K.5    Takashima, S.6
  • 19
    • 84894553488 scopus 로고    scopus 로고
    • Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila
    • Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, et al. Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila. Neurobiol Dis. 2014;65:211-9. doi: 10.1016/j.nbd.2014.01.021.
    • (2014) Neurobiol Dis , vol.65 , pp. 211-219
    • Janssens, K.1    Goethals, S.2    Atkinson, D.3    Ermanoska, B.4    Fransen, E.5    Jordanova, A.6
  • 20
    • 0037307776 scopus 로고    scopus 로고
    • Multiple regulatory elements with spatially and temporally distinct activities control neurogenin1 expression in primary neurons of the zebrafish embryo
    • Blader P, Plessy C, Strahle U. Multiple regulatory elements with spatially and temporally distinct activities control neurogenin1 expression in primary neurons of the zebrafish embryo. Mech Dev. 2003;120(2):211-8.
    • (2003) Mech Dev , vol.120 , Issue.2 , pp. 211-218
    • Blader, P.1    Plessy, C.2    Strahle, U.3
  • 21
    • 84903974170 scopus 로고    scopus 로고
    • Calsyntenin-1 regulates axon branching and endosomal trafficking during sensory neuron development in vivo
    • Ponomareva OY, Holmen IC, Sperry AJ, Eliceiri KW, Halloran MC. Calsyntenin-1 regulates axon branching and endosomal trafficking during sensory neuron development in vivo. J Neurosci. 2014;34(28):9235-48. doi: 10.1523/JNEUROSCI.0561-14.201434/28/9235.
    • (2014) J Neurosci , vol.34 , Issue.28 , pp. 9235-9248
    • Ponomareva, O.Y.1    Holmen, I.C.2    Sperry, A.J.3    Eliceiri, K.W.4    Halloran, M.C.5
  • 22
    • 80054832731 scopus 로고    scopus 로고
    • Generation of Rab-based transgenic lines for in vivo studies of endosome biology in zebrafish
    • Clark BS, Winter M, Cohen AR, Link BA. Generation of Rab-based transgenic lines for in vivo studies of endosome biology in zebrafish. Dev Dyn. 2011;240(11):2452-65. doi: 10.1002/dvdy.22758.
    • (2011) Dev Dyn , vol.240 , Issue.11 , pp. 2452-2465
    • Clark, B.S.1    Winter, M.2    Cohen, A.R.3    Link, B.A.4
  • 23
    • 38449110499 scopus 로고    scopus 로고
    • Tol2: a versatile gene transfer vector in vertebrates
    • Kawakami K. Tol2: a versatile gene transfer vector in vertebrates. Genome Biol. 2007;8 Suppl 1:S7. doi: 10.1186/gb-2007-8-s1-s7.
    • (2007) Genome Biol , vol.8 , pp. S7
    • Kawakami, K.1
  • 24
    • 36448963734 scopus 로고    scopus 로고
    • The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs
    • Kwan KM, Fujimoto E, Grabher C, Mangum BD, Hardy ME, Campbell DS, et al. The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs. Dev Dyn. 2007;236(11):3088-99. doi: 10.1002/dvdy.21343.
    • (2007) Dev Dyn , vol.236 , Issue.11 , pp. 3088-3099
    • Kwan, K.M.1    Fujimoto, E.2    Grabher, C.3    Mangum, B.D.4    Hardy, M.E.5    Campbell, D.S.6
  • 25
    • 0034667894 scopus 로고    scopus 로고
    • Programmed cell death in zebrafish rohon beard neurons is influenced by TrkC1/NT-3 signaling
    • Williams JA, Barrios A, Gatchalian C, Rubin L, Wilson SW, Holder N. Programmed cell death in zebrafish rohon beard neurons is influenced by TrkC1/NT-3 signaling. Dev Biol. 2000;226(2):220-30. doi: 10.1006/dbio.2000.9860.
    • (2000) Dev Biol , vol.226 , Issue.2 , pp. 220-230
    • Williams, J.A.1    Barrios, A.2    Gatchalian, C.3    Rubin, L.4    Wilson, S.W.5    Holder, N.6
  • 26
    • 84864772321 scopus 로고    scopus 로고
    • Swept field laser confocal microscopy for enhanced spatial and temporal resolution in live-cell imaging
    • Castellano-Munoz M, Peng AW, Salles FT, Ricci AJ. Swept field laser confocal microscopy for enhanced spatial and temporal resolution in live-cell imaging. Microsc Microanal. 2012;18(4):753-60. doi: 10.1017/S1431927612000542.
    • (2012) Microsc Microanal , vol.18 , Issue.4 , pp. 753-760
    • Castellano-Munoz, M.1    Peng, A.W.2    Salles, F.T.3    Ricci, A.J.4
  • 27
    • 0035865035 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2
    • Gemignani F, Marbini A. Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. J Neurol Sci. 2001;184(1):1-9.
    • (2001) J Neurol Sci , vol.184 , Issue.1 , pp. 1-9
    • Gemignani, F.1    Marbini, A.2
  • 29
    • 84860428078 scopus 로고    scopus 로고
    • Endocytic trafficking of neurotrophins in neural development
    • Ascano M, Bodmer D, Kuruvilla R. Endocytic trafficking of neurotrophins in neural development. Trends Cell Biol. 2012;22(5):266-73. doi: 10.1016/j.tcb.2012.02.005.
    • (2012) Trends Cell Biol , vol.22 , Issue.5 , pp. 266-273
    • Ascano, M.1    Bodmer, D.2    Kuruvilla, R.3
  • 31
    • 0346120154 scopus 로고    scopus 로고
    • Regulation of growth cone actin filaments by guidance cues
    • Gallo G, Letourneau PC. Regulation of growth cone actin filaments by guidance cues. J Neurobiol. 2004;58(1):92-102. doi: 10.1002/neu.10282.
    • (2004) J Neurobiol , vol.58 , Issue.1 , pp. 92-102
    • Gallo, G.1    Letourneau, P.C.2
  • 32
    • 37049019067 scopus 로고    scopus 로고
    • Late endosomal traffic of the epidermal growth factor receptor ensures spatial and temporal fidelity of mitogen-activated protein kinase signaling
    • Taub N, Teis D, Ebner HL, Hess MW, Huber LA. Late endosomal traffic of the epidermal growth factor receptor ensures spatial and temporal fidelity of mitogen-activated protein kinase signaling. Mol Biol Cell. 2007;18(12):4698-710. doi: 10.1091/mbc.E07-02-0098.
    • (2007) Mol Biol Cell , vol.18 , Issue.12 , pp. 4698-4710
    • Taub, N.1    Teis, D.2    Ebner, H.L.3    Hess, M.W.4    Huber, L.A.5
  • 33
    • 84872312700 scopus 로고    scopus 로고
    • Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling
    • BasuRay S, Mukherjee S, Romero EG, Seaman MN, Wandinger-Ness A. Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling. J Biol Chem. 2013;288(2):1135-49. doi: 10.1074/jbc.M112.417766.
    • (2013) J Biol Chem , vol.288 , Issue.2 , pp. 1135-1149
    • BasuRay, S.1    Mukherjee, S.2    Romero, E.G.3    Seaman, M.N.4    Wandinger-Ness, A.5
  • 34
    • 84878831020 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin
    • Cogli L, Progida C, Thomas CL, Spencer-Dene B, Donno C, Schiavo G, et al. Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. Acta Neuropathol. 2013;125(2):257-72. doi: 10.1007/s00401-012-1063-8.
    • (2013) Acta Neuropathol , vol.125 , Issue.2 , pp. 257-272
    • Cogli, L.1    Progida, C.2    Thomas, C.L.3    Spencer-Dene, B.4    Donno, C.5    Schiavo, G.6
  • 35
    • 0029585762 scopus 로고
    • Rab 7: an important regulator of late endocytic membrane traffic
    • Feng Y, Press B, Wandinger-Ness A. Rab 7: an important regulator of late endocytic membrane traffic. J Cell Biol. 1995;131(6 Pt 1):1435-52.
    • (1995) J Cell Biol , vol.131 , Issue.6 , pp. 1435-1452
    • Feng, Y.1    Press, B.2    Wandinger-Ness, A.3
  • 37
    • 79957487438 scopus 로고    scopus 로고
    • In vivo imaging of cell behaviors and F-actin reveals LIM-HD transcription factor regulation of peripheral versus central sensory axon development
    • Andersen E, Asuri N, Halloran M. In vivo imaging of cell behaviors and F-actin reveals LIM-HD transcription factor regulation of peripheral versus central sensory axon development. Neural Dev. 2011;6:27.
    • (2011) Neural Dev , vol.6 , pp. 27
    • Andersen, E.1    Asuri, N.2    Halloran, M.3
  • 38
    • 80055107054 scopus 로고    scopus 로고
    • Live imaging of cell motility and actin cytoskeleton of individual neurons and neural crest cells in zebrafish embryos
    • Andersen E, Asuri N, Clay M, Halloran M. Live imaging of cell motility and actin cytoskeleton of individual neurons and neural crest cells in zebrafish embryos. J Vis Exp. 2010;36. http://www.jove.com/video/1726/live-imaging-cell-motility-actinactincytoskeleton-individual-neurons. doi: 10.3791/1726.
    • (2010) J Vis Exp , pp. 36
    • Andersen, E.1    Asuri, N.2    Clay, M.3    Halloran, M.4
  • 39
    • 84863205849 scopus 로고    scopus 로고
    • NIH Image to ImageJ: 25 years of image analysis
    • Schneider CA, Rasband WS, Eliceiri KW. NIH Image to ImageJ: 25 years of image analysis. Nat Methods. 2012;9(7):671-5.
    • (2012) Nat Methods , vol.9 , Issue.7 , pp. 671-675
    • Schneider, C.A.1    Rasband, W.S.2    Eliceiri, K.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.