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Volumn 110, Issue 46, 2013, Pages 18698-18703

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE 3; INHIBITOR OF KAPPA B KINASE COMPLEX ASSOCIATED PROTEIN; NERVE GROWTH FACTOR; NEUROTROPHIN 3 RECEPTOR; PROTEIN P53; PROTEIN TYROSINE KINASE A; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR RUNX3; UNCLASSIFIED DRUG;

EID: 84887496750     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1308596110     Document Type: Article
Times cited : (64)

References (51)
  • 1
    • 84857036952 scopus 로고    scopus 로고
    • Mechanisms of disease in hereditary sensory and autonomic neuropathies
    • Rotthier A, Baets J, Timmerman V, Janssens K (2012) Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 8(2):73-85.
    • (2012) Nat Rev Neurol , vol.8 , Issue.2 , pp. 73-85
    • Rotthier, A.1    Baets, J.2    Timmerman, V.3    Janssens, K.4
  • 4
    • 1442328913 scopus 로고    scopus 로고
    • Familial dysautonomia
    • Axelrod FB (2004) Familial dysautonomia. Muscle Nerve 29(3):352-363.
    • (2004) Muscle Nerve , vol.29 , Issue.3 , pp. 352-363
    • Axelrod, F.B.1
  • 5
    • 0017927931 scopus 로고
    • Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia
    • DOI 10.1016/0022-510X(78)90103-X
    • Pearson J, Pytel BA, Grover-Johnson N, Axelrod F, Dancis J (1978) Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci 35(1):77-92. (Pubitemid 8251562)
    • (1978) Journal of the Neurological Sciences , vol.35 , Issue.1 , pp. 77-92
    • Pearson, J.1    Pytel, B.A.2    Grover-Johnson, N.3
  • 10
    • 59349089711 scopus 로고    scopus 로고
    • Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin
    • Creppe C, et al. (2009) Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. Cell 136(3):551-564.
    • (2009) Cell , vol.136 , Issue.3 , pp. 551-564
    • Creppe, C.1
  • 11
    • 76749123484 scopus 로고    scopus 로고
    • The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation
    • Solinger JA, et al. (2010) The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation. PLoS Genet 6(1):e1000820.
    • (2010) PLoS Genet , vol.6 , Issue.1
    • Solinger, J.A.1
  • 12
    • 77956525850 scopus 로고    scopus 로고
    • MEC-17 is an alpha-tubulin acetyltransferase
    • Akella JS, et al. (2010) MEC-17 is an alpha-tubulin acetyltransferase. Nature 467(7312):218-222.
    • (2010) Nature , vol.467 , Issue.7312 , pp. 218-222
    • Akella, J.S.1
  • 13
    • 84871490369 scopus 로고    scopus 로고
    • A coordinated codon-dependent regulation of translation by Elongator
    • Bauer F, Hermand D (2012) A coordinated codon-dependent regulation of translation by Elongator. Cell Cycle 11(24):4524-4529.
    • (2012) Cell Cycle , vol.11 , Issue.24 , pp. 4524-4529
    • Bauer, F.1    Hermand, D.2
  • 14
    • 78650731392 scopus 로고    scopus 로고
    • The major alpha-tubulin K40 acetyltransferase alphaTAT1 promotes rapid ciliogenesis and efficient mechanosensation
    • Shida T, Cueva JG, Xu Z, Goodman MB, Nachury MV (2010) The major alpha-tubulin K40 acetyltransferase alphaTAT1 promotes rapid ciliogenesis and efficient mechanosensation. Proc Natl Acad Sci USA 107(50):21517-21522.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.50 , pp. 21517-21522
    • Shida, T.1    Cueva, J.G.2    Xu, Z.3    Goodman, M.B.4    Nachury, M.V.5
  • 15
    • 84861671920 scopus 로고    scopus 로고
    • Translational control of cell division by Elongator
    • Bauer F, et al. (2012) Translational control of cell division by Elongator. Cell Rep 1(5):424-433.
    • (2012) Cell Rep , vol.1 , Issue.5 , pp. 424-433
    • Bauer, F.1
  • 16
    • 79953121016 scopus 로고    scopus 로고
    • IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia
    • Cheishvili D, et al. (2011) IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia. Hum Mol Genet 20(8):1585-1594.
    • (2011) Hum Mol Genet , vol.20 , Issue.8 , pp. 1585-1594
    • Cheishvili, D.1
  • 19
    • 65349118141 scopus 로고    scopus 로고
    • Loss-of-function of IKAP/ELP1: Could neuronal migration defect underlie familial dysautonomia?
    • Naumanen T, Johansen LD, Coffey ET, Kallunki T (2008) Loss-of-function of IKAP/ELP1: Could neuronal migration defect underlie familial dysautonomia? Cell Adhes Migr 2(4):236-239.
    • (2008) Cell Adhes Migr , vol.2 , Issue.4 , pp. 236-239
    • Naumanen, T.1    Johansen, L.D.2    Coffey, E.T.3    Kallunki, T.4
  • 20
    • 59249093238 scopus 로고    scopus 로고
    • Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP
    • Chen YT, et al. (2009) Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol 29(3):736-744.
    • (2009) Mol Cell Biol , vol.29 , Issue.3 , pp. 736-744
    • Chen, Y.T.1
  • 21
    • 80055061041 scopus 로고    scopus 로고
    • Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality
    • Dietrich P, Yue J, e S, Dragatsis I (2011) Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality. PLoS ONE 6(10):e27015.
    • (2011) PLoS ONE , vol.6 , Issue.10
    • Dietrich, P.1    Yue, J.2    E, S.3    Dragatsis, I.4
  • 22
    • 84869034190 scopus 로고    scopus 로고
    • IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia
    • Dietrich P, Alli S, Shanmugasundaram R, Dragatsis I (2012) IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia. Hum Mol Genet 21(23):5078-5090.
    • (2012) Hum Mol Genet , vol.21 , Issue.23 , pp. 5078-5090
    • Dietrich, P.1    Alli, S.2    Shanmugasundaram, R.3    Dragatsis, I.4
  • 24
    • 0031976673 scopus 로고    scopus 로고
    • A cephalometric evaluation of craniofacial morphology in familial dysautonomia
    • DOI 10.1597/1545-1569(1998)035<0120:ACEOCM>2.3
    • Mass E, Brin I, Belostoky L, Maayan C, Gadoth N (1998) A cephalometric evaluation of craniofacial morphology in familial dysautonomia. Cleft Palate Craniofac J 35(2):120-126. (Pubitemid 28162729)
    • (1998) Cleft Palate-Craniofacial Journal , vol.35 , Issue.2 , pp. 120-126
    • Mass, E.1    Brin, I.2    Belostoky, L.3    Maayan, C.4    Gadoth, N.5
  • 25
    • 22244452007 scopus 로고    scopus 로고
    • Experimental aspects of the pathogenesis of Robin sequence
    • DOI 10.1597/03-166.1
    • Schubert J, Jahn H, Berginski M (2005) Experimental aspects of the pathogenesis of Robin sequence. Cleft Palate Craniofac J 42(4):372-376. (Pubitemid 40994530)
    • (2005) Cleft Palate-Craniofacial Journal , vol.42 , Issue.4 , pp. 372-376
    • Schubert, J.1    Jahn, H.2    Berginski, M.3
  • 26
    • 0030605486 scopus 로고    scopus 로고
    • Role of neurotrophins and trk receptors in the development and maintenance of sensory neurons: An overview
    • Lindsay RM (1996) Role of neurotrophins and trk receptors in the development and maintenance of sensory neurons: An overview. Philos Trans R Soc Lond B Biol Sci 351(1338):365-373.
    • (1996) Philos Trans R Soc Lond B Biol Sci , vol.351 , Issue.1338 , pp. 365-373
    • Lindsay, R.M.1
  • 27
    • 0034927081 scopus 로고    scopus 로고
    • Neurotrophins: Roles in neuronal development and function
    • DOI 10.1146/annurev.neuro.24.1.677
    • Huang EJ, Reichardt LF (2001) Neurotrophins: Roles in neuronal development and function. Annu Rev Neurosci 24:677-736. (Pubitemid 32695243)
    • (2001) Annual Review of Neuroscience , vol.24 , pp. 677-736
    • Huang, E.J.1    Reichardt, L.F.2
  • 28
    • 0020074481 scopus 로고
    • Depletion of substance P-containing axons in substantia gelatinosa of patients with diminished pain sensitivity
    • DOI 10.1038/295061a0
    • Pearson J, Brandeis L, Cuello AC (1982) Depletion of substance P-containing axons in substantia gelatinosa of patients with diminished pain sensitivity. Nature 295(5844):61-63. (Pubitemid 12103949)
    • (1982) Nature , vol.295 , Issue.5844 , pp. 61-63
    • Pearson, J.1    Brandeis, L.2    Cuello, A.C.3
  • 29
    • 33746059333 scopus 로고    scopus 로고
    • Tyrosine hydroxylase is expressed in a subpopulation of small dorsal root ganglion neurons in the adult mouse
    • DOI 10.1016/j.expneurol.2006.01.023, PII S0014488606000379
    • Brumovsky P, Villar MJ, Hökfelt T (2006) Tyrosine hydroxylase is expressed in a subpopulation of small dorsal root ganglion neurons in the adult mouse. Exp Neurol 200(1):153-165. (Pubitemid 44080756)
    • (2006) Experimental Neurology , vol.200 , Issue.1 , pp. 153-165
    • Brumovsky, P.1    Villar, M.J.2    Hokfelt, T.3
  • 30
    • 78049296458 scopus 로고    scopus 로고
    • VGLUT2-dependent sensory neurons in the TRPV1 population regulate pain and itch
    • Lagerström MC, et al. (2010) VGLUT2-dependent sensory neurons in the TRPV1 population regulate pain and itch. Neuron 68(3):529-542.
    • (2010) Neuron , vol.68 , Issue.3 , pp. 529-542
    • Lagerström, M.C.1
  • 32
    • 84455178983 scopus 로고    scopus 로고
    • The functional organization of cutaneous low-threshold mechanosensory neurons
    • Li L, et al. (2011) The functional organization of cutaneous low-threshold mechanosensory neurons. Cell 147(7):1615-1627.
    • (2011) Cell , vol.147 , Issue.7 , pp. 1615-1627
    • Li, L.1
  • 33
    • 81055147653 scopus 로고    scopus 로고
    • Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?
    • Macefield VG, Norcliffe-Kaufmann L, Gutiérrez J, Axelrod FB, Kaufmann H (2011) Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome? Brain 134(Pt 11):3198-3208.
    • (2011) Brain , vol.134 , Issue.PART 11 , pp. 3198-3208
    • Macefield, V.G.1    Norcliffe-Kaufmann, L.2    Gutiérrez, J.3    Axelrod, F.B.4    Kaufmann, H.5
  • 34
    • 0018775912 scopus 로고
    • Development of mouse dorsal root ganglion; an autoradiographic and quantitative study
    • DOI 10.1007/BF01236122
    • Lawson SN, Biscoe TJ (1979) Development of mouse dorsal root ganglia: An autoradiographic and quantitative study. J Neurocytol 8(3):265-274. (Pubitemid 9198407)
    • (1979) Journal of Neurocytology , vol.8 , Issue.3 , pp. 265-274
    • Lawson, S.N.1    Biscoe, T.J.2
  • 35
    • 0030460869 scopus 로고    scopus 로고
    • Lack of neurotrophin-3 results in death of spinal sensory neurons and premature differentiation of their precursors
    • Fariñas I, Yoshida CK, Backus C, Reichardt LF (1996) Lack of neurotrophin-3 results in death of spinal sensory neurons and premature differentiation of their precursors. Neuron 17(6):1065-1078.
    • (1996) Neuron , vol.17 , Issue.6 , pp. 1065-1078
    • Fariñas, I.1    Yoshida, C.K.2    Backus, C.3    Reichardt, L.F.4
  • 36
    • 0032143396 scopus 로고    scopus 로고
    • Characterization of neurotrophin and Trk receptor functions in developing sensory ganglia: Direct NT-3 activation of TrkB neurons in vivo
    • Fariñas I, Wilkinson GA, Backus C, Reichardt LF, Patapoutian A (1998) Characterization of neurotrophin and Trk receptor functions in developing sensory ganglia: Direct NT-3 activation of TrkB neurons in vivo. Neuron 21(2):325-334.
    • (1998) Neuron , vol.21 , Issue.2 , pp. 325-334
    • Fariñas, I.1    Wilkinson, G.A.2    Backus, C.3    Reichardt, L.F.4    Patapoutian, A.5
  • 37
    • 34748926405 scopus 로고    scopus 로고
    • Nociceptive sensory neurons derive from contralaterally migrating, fate-restricted neural crest cells
    • DOI 10.1038/nn1962, PII NN1962
    • George L, Chaverra M, Todd V, Lansford R, Lefcort F (2007) Nociceptive sensory neurons derive from contralaterally migrating, fate-restricted neural crest cells. Nat Neurosci 10(10):1287-1293. (Pubitemid 47480293)
    • (2007) Nature Neuroscience , vol.10 , Issue.10 , pp. 1287-1293
    • George, L.1    Chaverra, M.2    Todd, V.3    Lansford, R.4    Lefcort, F.5
  • 39
    • 84857592109 scopus 로고    scopus 로고
    • IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration
    • Hunnicutt BJ, Chaverra M, George L, Lefcort F (2012) IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration. PLoS ONE 7(2):e32050.
    • (2012) PLoS ONE , vol.7 , Issue.2
    • Hunnicutt, B.J.1    Chaverra, M.2    George, L.3    Lefcort, F.4
  • 40
    • 0033166408 scopus 로고    scopus 로고
    • NEUROGENIN1 and NEUROGENIN2 control two distinct waves of neurogenesis in developing dorsal root ganglia
    • Ma Q, Fode C, Guillemot F, Anderson DJ (1999) Neurogenin1 and neurogenin2 control two distinct waves of neurogenesis in developing dorsal root ganglia. Genes Dev 13(13):1717-1728. (Pubitemid 29325876)
    • (1999) Genes and Development , vol.13 , Issue.13 , pp. 1717-1728
    • Ma, Q.1    Fode, C.2    Guillemot, F.3    Anderson, D.J.4
  • 42
    • 31444439049 scopus 로고    scopus 로고
    • A role for Runx transcription factor signaling in dorsal root ganglion sensory neuron diversification
    • DOI 10.1016/j.neuron.2006.01.008, PII S0896627306000353
    • Kramer I, et al. (2006) A role for Runx transcription factor signaling in dorsal root ganglion sensory neuron diversification. Neuron 49(3):379-393. (Pubitemid 43152240)
    • (2006) Neuron , vol.49 , Issue.3 , pp. 379-393
    • Kramer, I.1    Sigrist, M.2    De Nooij, J.C.3    Taniuchi, I.4    Jessell, T.M.5    Arber, S.6
  • 44
    • 0842348861 scopus 로고    scopus 로고
    • Heterogeneous Requirement of NGF for Sympathetic Target Innervation In Vivo
    • DOI 10.1523/JNEUROSCI.4523-03.2004
    • Glebova NO, Ginty DD (2004) Heterogeneous requirement of NGF for sympathetic target innervation in vivo. J Neurosci 24(3):743-751. (Pubitemid 38166500)
    • (2004) Journal of Neuroscience , vol.24 , Issue.3 , pp. 743-751
    • Glebova, N.O.1    Ginty, D.D.2
  • 45
    • 51149095224 scopus 로고    scopus 로고
    • Cardiac outflow tract septation failure in Pax3-deficient embryos is due to p53-dependent regulation of migrating cardiac neural crest
    • Morgan SC, et al. (2008) Cardiac outflow tract septation failure in Pax3-deficient embryos is due to p53-dependent regulation of migrating cardiac neural crest. Mech Dev 125(9-10):757-767.
    • (2008) Mech Dev , vol.125 , Issue.9-10 , pp. 757-767
    • Morgan, S.C.1
  • 46
    • 84555203320 scopus 로고    scopus 로고
    • Pax3 stimulates p53 ubiquitination and degradation independent of transcription
    • Wang XD, Morgan SC, Loeken MR (2011) Pax3 stimulates p53 ubiquitination and degradation independent of transcription. PLoS ONE 6(12):e29379.
    • (2011) PLoS ONE , vol.6 , Issue.12
    • Wang, X.D.1    Morgan, S.C.2    Loeken, M.R.3
  • 47
    • 41349083523 scopus 로고    scopus 로고
    • Key basic helix-loop-helix transcription factor genes Hes1 and Ngn2 are regulated by Pax3 during mouse embryonic development
    • Nakazaki H, et al. (2008) Key basic helix-loop-helix transcription factor genes Hes1 and Ngn2 are regulated by Pax3 during mouse embryonic development. Dev Biol 316(2):510-523.
    • (2008) Dev Biol , vol.316 , Issue.2 , pp. 510-523
    • Nakazaki, H.1
  • 48
    • 77951454833 scopus 로고    scopus 로고
    • The Groucho/TLE/Grg family of transcriptional corepressors
    • Jennings BH, Ish-Horowicz D (2008) The Groucho/TLE/Grg family of transcriptional corepressors. Genome Biol 9(1):205.
    • (2008) Genome Biol , vol.9 , Issue.1 , pp. 205
    • Jennings, B.H.1    Ish-Horowicz, D.2
  • 49
    • 33744514127 scopus 로고    scopus 로고
    • Molecular Recognition of Transcriptional Repressor Motifs by the WD Domain of the Groucho/TLE Corepressor
    • DOI 10.1016/j.molcel.2006.04.024, PII S1097276506002991
    • Jennings BH, et al. (2006) Molecular recognition of transcriptional repressor motifs by the WD domain of the Groucho/TLE corepressor. Mol Cell 22(5):645-655. (Pubitemid 43817604)
    • (2006) Molecular Cell , vol.22 , Issue.5 , pp. 645-655
    • Jennings, B.H.1    Pickles, L.M.2    Wainwright, S.M.3    Roe, S.M.4    Pearl, L.H.5    Ish-Horowicz, D.6
  • 50
    • 0037087629 scopus 로고    scopus 로고
    • Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: Implications for Pax-3-dependent development and tumorigenesis
    • DOI 10.1101/gad.969302
    • Pani L, Horal M, Loeken MR (2002) Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: Implications for Pax-3- dependent development and tumorigenesis. Genes Dev 16(6):676-680. (Pubitemid 34274036)
    • (2002) Genes and Development , vol.16 , Issue.6 , pp. 676-680
    • Pani, L.1    Horal, M.2    Loeken, M.R.3
  • 51
    • 43049163953 scopus 로고    scopus 로고
    • Acetylation Is Indispensable for p53 Activation
    • DOI 10.1016/j.cell.2008.03.025, PII S0092867408004418
    • Tang Y, Zhao W, Chen Y, Zhao Y, Gu W (2008) Acetylation is indispensable for p53 activation. Cell 133(4):612-626. (Pubitemid 351636297)
    • (2008) Cell , vol.133 , Issue.4 , pp. 612-626
    • Tang, Y.1    Zhao, W.2    Chen, Y.3    Zhao, Y.4    Gu, W.5


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