메뉴 건너뛰기




Volumn 21, Issue 23, 2012, Pages 5078-5090

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

Author keywords

[No Author keywords available]

Indexed keywords

I KAPPA B KINASE; I KAPPA B KINASE COMPLEX ASSOCIATED PROTEIN; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG;

EID: 84869034190     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds354     Document Type: Article
Times cited : (43)

References (62)
  • 1
    • 0001294620 scopus 로고
    • Central autonomic dysfunction with defective lacrimation; report of five cases
    • Riley, C.M., Day, R.L., Greely, D. and Langford, W.S. (1949) Central autonomic dysfunction with defective lacrimation; report of five cases. Pediatrics, 3, 468-478.
    • (1949) Pediatrics , vol.3 , pp. 468-478
    • Riley, C.M.1    Day, R.L.2    Greely, D.3    Langford, W.S.4
  • 2
    • 0016216828 scopus 로고
    • Familial dysautonomia: diagnosis, pathogenesis and management
    • Axelrod, F.B., Nachtigal, R. and Dancis, J. (1974) Familial dysautonomia: diagnosis, pathogenesis and management. Adv. Pediatr., 21, 75-96.
    • (1974) Adv. Pediatr. , vol.21 , pp. 75-96
    • Axelrod, F.B.1    Nachtigal, R.2    Dancis, J.3
  • 3
    • 1442328913 scopus 로고    scopus 로고
    • Familial dysautonomia
    • Axelrod, F.B. (2004) Familial dysautonomia. Muscle Nerve, 29, 352-363.
    • (2004) Muscle Nerve , vol.29 , pp. 352-363
    • Axelrod, F.B.1
  • 4
    • 0018166231 scopus 로고
    • Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia
    • Pearson, J. and Pytel, B.A. (1978) Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J. Neurol. Sci., 39, 47-59.
    • (1978) J. Neurol. Sci. , vol.39 , pp. 47-59
    • Pearson, J.1    Pytel, B.A.2
  • 5
    • 0021738204 scopus 로고
    • Congenital sensory neuropathies Diagnostic distinction from familial dysautonomia
    • Axelrod, F.B. and Pearson, J. (1984) Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am. J. Dis. Child, 138, 947-954.
    • (1984) Am. J. Dis. Child , vol.138 , pp. 947-954
    • Axelrod, F.B.1    Pearson, J.2
  • 6
    • 4344654753 scopus 로고    scopus 로고
    • Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation
    • Hilz, M.J., Axelrod, F.B., Bickel, A., Stemper, B., Brys, M., Wendelschafer-Crabb, G. and Kennedy, W.R. (2004) Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation. Brain, 127, 2090-2098.
    • (2004) Brain , vol.127 , pp. 2090-2098
    • Hilz, M.J.1    Axelrod, F.B.2    Bickel, A.3    Stemper, B.4    Brys, M.5    Wendelschafer-Crabb, G.6    Kennedy, W.R.7
  • 7
  • 8
    • 0014842214 scopus 로고
    • Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature
    • Brunt, P.W. and McKusick, V.A. (1970) Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature. Medicine, 49, 343-374.
    • (1970) Medicine , vol.49 , pp. 343-374
    • Brunt, P.W.1    McKusick, V.A.2
  • 9
    • 0030020974 scopus 로고    scopus 로고
    • Increased major salivary gland secretion in familial dysautonomia
    • Mass, E., Wolff, A. and Gadoth, N. (1996) Increased major salivary gland secretion in familial dysautonomia. Dev. Med. Child. Neurol., 38, 133-138.
    • (1996) Dev. Med. Child. Neurol. , vol.38 , pp. 133-138
    • Mass, E.1    Wolff, A.2    Gadoth, N.3
  • 15
    • 18144381278 scopus 로고    scopus 로고
    • Familial dysautonomia: a review of the current pharmacological treatments
    • Axelrod, F.B. (2005) Familial dysautonomia: a review of the current pharmacological treatments. Expert Opin. Pharmacother., 6, 561-567.
    • (2005) Expert Opin. Pharmacother. , vol.6 , pp. 561-567
    • Axelrod, F.B.1
  • 16
    • 0032541670 scopus 로고    scopus 로고
    • IKAP is a scaffold protein of the IkappaB kinase complex
    • Cohen, L., Henzel, W.J. and Baeuerle, P.A. (1998) IKAP is a scaffold protein of the IkappaB kinase complex. Nature, 395, 292-296.
    • (1998) Nature , vol.395 , pp. 292-296
    • Cohen, L.1    Henzel, W.J.2    Baeuerle, P.A.3
  • 21
    • 79953121016 scopus 로고    scopus 로고
    • IKAP/Elp1 involvment in cytoskeleton regulation and implication for familial dysautonomia
    • Cheishvili, D., Maayan, C., Cohen-Kupiec, R., Lefler, S., Weil, M., Ast, G. and Razin, A. (2011) IKAP/Elp1 involvment in cytoskeleton regulation and implication for familial dysautonomia. Hum. Mol. Genet., 20, 1585-1594.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1585-1594
    • Cheishvili, D.1    Maayan, C.2    Cohen-Kupiec, R.3    Lefler, S.4    Weil, M.5    Ast, G.6    Razin, A.7
  • 22
    • 0037200023 scopus 로고    scopus 로고
    • A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling
    • Holmberg, C., Katz, S., Lerdrup, M., Herdegen, T., Jäättelä, M., Aronheim, A. and Kallunki, T. (2002) A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling. J. Biol. Chem., 277, 31918-31928.
    • (2002) J. Biol. Chem. , vol.277 , pp. 31918-31928
    • Holmberg, C.1    Katz, S.2    Lerdrup, M.3    Herdegen, T.4    Jäättelä, M.5    Aronheim, A.6    Kallunki, T.7
  • 23
    • 15244355534 scopus 로고    scopus 로고
    • Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation
    • Rahl, P.B., Chen, C.Z. and Collins, R.N. (2005) Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation. Mol. Cell, 17, 841-853.
    • (2005) Mol. Cell , vol.17 , pp. 841-853
    • Rahl, P.B.1    Chen, C.Z.2    Collins, R.N.3
  • 24
    • 15444371415 scopus 로고    scopus 로고
    • An early step in wobble uridine tRNA modification requires the Elongator complex
    • Huang, B., Johansson, M.J. and Byström, A.S. (2005) An early step in wobble uridine tRNA modification requires the Elongator complex. RNA, 11, 424-436.
    • (2005) RNA , vol.11 , pp. 424-436
    • Huang, B.1    Johansson, M.J.2    Byström, A.S.3
  • 25
    • 33749078546 scopus 로고    scopus 로고
    • Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis
    • Esberg, A., Huang, B., Johansson, M.J. and Byström, A.S. (2006) Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis. Mol Cell, 24, 139-148.
    • (2006) Mol Cell , vol.24 , pp. 139-148
    • Esberg, A.1    Huang, B.2    Johansson, M.J.3    Byström, A.S.4
  • 30
    • 0035861181 scopus 로고    scopus 로고
    • Genomic organization and chromosomal localization of the mouse IKBKAP gene
    • Coli, R., Anderson, S.L., Volpi, S.A. and Rubin, B.Y. (2001) Genomic organization and chromosomal localization of the mouse IKBKAP gene. Gene, 279, 81-89.
    • (2001) Gene , vol.279 , pp. 81-89
    • Coli, R.1    Anderson, S.L.2    Volpi, S.A.3    Rubin, B.Y.4
  • 32
    • 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., Shuyu, E. and 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, e27015.
    • (2011) PLoS One , vol.6
    • Dietrich, P.1    Yue, J.2    Shuyu, E.3    Dragatsis, I.4
  • 33
    • 0034007328 scopus 로고    scopus 로고
    • Conditional mutagenesis in mice with heat shock promoter-driven cre transgenes
    • Dietrich, P., Dragatsis, I., Xuan, S., Zeitlin, S. and Efstratiadis, A. (2000) Conditional mutagenesis in mice with heat shock promoter-driven cre transgenes. Mamm. Genome, 11, 196-205.
    • (2000) Mamm. Genome , vol.11 , pp. 196-205
    • Dietrich, P.1    Dragatsis, I.2    Xuan, S.3    Zeitlin, S.4    Efstratiadis, A.5
  • 34
    • 0015593365 scopus 로고
    • Intrauterine growth retardation in familial dysautonomia
    • Axelrod, F.B. and Dancis, J. (1973) Intrauterine growth retardation in familial dysautonomia. Am. J. Dis. Child, 125, 379-380.
    • (1973) Am. J. Dis. Child , vol.125 , pp. 379-380
    • Axelrod, F.B.1    Dancis, J.2
  • 35
    • 0001549945 scopus 로고
    • Absence of taste-bud papillae in familial dysautonomia
    • Smith, A., Farbman, A. and Dancis, I. (1965) Absence of taste-bud papillae in familial dysautonomia. Science, 147, 1040-1041.
    • (1965) Science , vol.147 , pp. 1040-1041
    • Smith, A.1    Farbman, A.2    Dancis, I.3
  • 38
    • 84870831824 scopus 로고    scopus 로고
    • Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome
    • doi: 10.1038/ jhh.2011.107
    • Norcliffe-Kaufmann, L., Axelrod, F.B. and Kaufmann, H. (2011) Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J. Hum. Hypertens., 1 December. doi: 10.1038/ jhh.2011.107.
    • (2011) J. Hum. Hypertens., 1 December.
    • Norcliffe-Kaufmann, L.1    Axelrod, F.B.2    Kaufmann, H.3
  • 39
    • 0017927931 scopus 로고
    • Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia
    • Pearson, J., Pytel, B.A., Grover-Johnson, N., Axelrod, F. and Dancis, J. (1978) Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J. Neurol. Sci., 35, 77-92.
    • (1978) J. Neurol. Sci. , vol.35 , pp. 77-92
    • Pearson, J.1    Pytel, B.A.2    Grover-Johnson, N.3    Axelrod, F.4    Dancis, J.5
  • 40
    • 0025775101 scopus 로고
    • Soma neurofilament immunoreactivity is related to cell size and fibre conduction velocity in rat primary sensory neurons
    • Lawson, S.N. and Waddell, P.J. (1991) Soma neurofilament immunoreactivity is related to cell size and fibre conduction velocity in rat primary sensory neurons. J. Physiol., 435, 41-63.
    • (1991) J. Physiol. , vol.435 , pp. 41-63
    • Lawson, S.N.1    Waddell, P.J.2
  • 41
    • 0027473690 scopus 로고
    • A method for unbiased and efficient estimation of number and mean volume of specified neurons subtypes in rat dorsal root ganglion
    • Tandrup, T. (1993) A method for unbiased and efficient estimation of number and mean volume of specified neurons subtypes in rat dorsal root ganglion. J. Comp. Neurol., 329, 269-276.
    • (1993) J. Comp. Neurol. , vol.329 , pp. 269-276
    • Tandrup, T.1
  • 42
    • 0036209870 scopus 로고    scopus 로고
    • Predominant neuronal B-cell loss in L5 DRG of p75 receptor-deficient mice
    • Gjerstad, M.D., Tandrup, T., Koltzenburg, M. and Jakobsen, J. (2002) Predominant neuronal B-cell loss in L5 DRG of p75 receptor-deficient mice. J. Anat., 200, 81-87.
    • (2002) J. Anat. , vol.200 , pp. 81-87
    • Gjerstad, M.D.1    Tandrup, T.2    Koltzenburg, M.3    Jakobsen, J.4
  • 43
    • 0028551042 scopus 로고
    • Neuropeptides in morphologically and functionally identified primary afferent neurons in dorsal root ganglia: substance P, CGRP and somatostatin. Prog
    • Lawson, S.N. (1995) Neuropeptides in morphologically and functionally identified primary afferent neurons in dorsal root ganglia: substance P, CGRP and somatostatin. Prog. Brain Res., 104, 161-173.
    • (1995) Brain Res , vol.104 , pp. 161-173
    • Lawson, S.N.1
  • 44
    • 0027272507 scopus 로고
    • Neurotrophin receptor genes are expressed in distrinct patterns in developing dorsal root ganglia
    • Mu, X., Silos-Santiago, I., Carroll, S.L. and Snider, W.D. (1993) Neurotrophin receptor genes are expressed in distrinct patterns in developing dorsal root ganglia. J. Neurosci., 13, 4029-4041.
    • (1993) J. Neurosci. , vol.13 , pp. 4029-4041
    • Mu, X.1    Silos-Santiago, I.2    Carroll, S.L.3    Snider, W.D.4
  • 45
    • 0029033882 scopus 로고
    • Are the neurons in the dorsal root ganglion pseudounipolar? A comparison of the number of neurons and number of myelinated and unmyelinated fibres in the dorsal root
    • Tandrup, T. (1995) Are the neurons in the dorsal root ganglion pseudounipolar? A comparison of the number of neurons and number of myelinated and unmyelinated fibres in the dorsal root. J. Comp. Neurol., 357, 341-347.
    • (1995) J. Comp. Neurol. , vol.357 , pp. 341-347
    • Tandrup, T.1
  • 46
    • 0018682381 scopus 로고
    • Tyrosine hydroxylase immunoreactivity in familial dysautonomia
    • Pearson, J., Brandeis, L. and Goldstein, M. (1979) Tyrosine hydroxylase immunoreactivity in familial dysautonomia. Science, 206, 71-72.
    • (1979) Science , vol.206 , pp. 71-72
    • Pearson, J.1    Brandeis, L.2    Goldstein, M.3
  • 47
    • 48349100697 scopus 로고    scopus 로고
    • Plasma catechols in familial dysautonomia: a long-term follow-up study
    • Goldstein, D.S., Holmes, C. and Axelrod, F.B. (2008) Plasma catechols in familial dysautonomia: a long-term follow-up study. Neurochem. Res., 33, 1889-1893.
    • (2008) Neurochem. Res. , vol.33 , pp. 1889-1893
    • Goldstein, D.S.1    Holmes, C.2    Axelrod, F.B.3
  • 48
  • 49
    • 84975478372 scopus 로고    scopus 로고
    • Optic neuropathy in familial dysautonomia
    • Groom, M., Kay, M.D. and Corrent, G.F. (1997) Optic neuropathy in familial dysautonomia. J. Neuroophthalmol., 17, 101-102.
    • (1997) J. Neuroophthalmol. , vol.17 , pp. 101-102
    • Groom, M.1    Kay, M.D.2    Corrent, G.F.3
  • 51
    • 81055147653 scopus 로고    scopus 로고
    • Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?
    • Macefield, V.G., Norcliffe-Kaufmann, L., Gutiérrez, J., Axelrod, F.B. and Kaufmann, H. (2011) Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome? Brain, 134, 3198-3208.
    • (2011) Brain , vol.134 , pp. 3198-3208
    • Macefield, V.G.1    Norcliffe-Kaufmann, L.2    Gutiérrez, J.3    Axelrod, F.B.4    Kaufmann, H.5
  • 54
    • 0038392607 scopus 로고    scopus 로고
    • Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia
    • Anderson, S.L., Qiu, J. and Rubin, B.Y. (2003) Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia. Biochem. Biophys. Res. Commun., 306, 303-309.
    • (2003) Biochem. Biophys. Res. Commun. , vol.306 , pp. 303-309
    • Anderson, S.L.1    Qiu, J.2    Rubin, B.Y.3
  • 55
    • 24344501293 scopus 로고    scopus 로고
    • Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia
    • Anderson, S.L. and Rubin, B.Y. (2005) Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia. Biochem. Biophys. Res. Commun., 336, 150-156.
    • (2005) Biochem. Biophys. Res. Commun. , vol.336 , pp. 150-156
    • Anderson, S.L.1    Rubin, B.Y.2
  • 56
    • 58149198244 scopus 로고    scopus 로고
    • The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies
    • Rubin, B.Y. and Anderson, S.L. (2008) The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies. Neuromolecular Med., 10, 148-156.
    • (2008) Neuromolecular Med , vol.10 , pp. 148-156
    • Rubin, B.Y.1    Anderson, S.L.2
  • 57
    • 78650813785 scopus 로고    scopus 로고
    • Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells
    • Keren, H., Donyo, M., Zeevi, D., Maayan, C., Pupko, T. and Ast, G. (2010) Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells. PLoS One, 5, e15884.
    • (2010) PLoS One , vol.5
    • Keren, H.1    Donyo, M.2    Zeevi, D.3    Maayan, C.4    Pupko, T.5    Ast, G.6
  • 58
    • 84857592109 scopus 로고    scopus 로고
    • IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration
    • Hunnicutt, B.J., Chaverra, M., George, L. and Lefcort, F. (2012) IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration. PLoS One, 7, e32050.
    • (2012) PLoS One , vol.7
    • Hunnicutt, B.J.1    Chaverra, M.2    George, L.3    Lefcort, F.4
  • 59
    • 0034764503 scopus 로고    scopus 로고
    • RET signaling is essential for migration, axonal growth and axon guidance of developing sympathetic neurons
    • Enomoto, H., Crawford, P.A., Gorodinsky, A., Heuckeroth, R.O., Johnson, E.M. Jr and Milbrandt, J. (2001) RET signaling is essential for migration, axonal growth and axon guidance of developing sympathetic neurons. Development, 128, 3963-3974.
    • (2001) Development , vol.128 , pp. 3963-3974
    • Enomoto, H.1    Crawford, P.A.2    Gorodinsky, A.3    Heuckeroth, R.O.4    Johnson Jr., E.M.5    Milbrandt, J.6
  • 60
    • 0028291238 scopus 로고
    • Lack of neurotrophin-3 leads to deficiencies in the peripheral nervous system and loss of limb proprioceptive afferents
    • Ernfors, P., Lee, K.F., Kucera, J. and Jaenisch, R. (1994) Lack of neurotrophin-3 leads to deficiencies in the peripheral nervous system and loss of limb proprioceptive afferents. Cell, 77, 503-512.
    • (1994) Cell , vol.77 , pp. 503-512
    • Ernfors, P.1    Lee, K.F.2    Kucera, J.3    Jaenisch, R.4
  • 61
    • 0036254771 scopus 로고    scopus 로고
    • Time course of morphological alterations of fungiform papillae and taste buds following chorda tympani transection in neonatal rats
    • Sollars, S.I., Smith, P.C. and Hill, D.L. (2002) Time course of morphological alterations of fungiform papillae and taste buds following chorda tympani transection in neonatal rats. J. Neurobiol., 51, 223-236.
    • (2002) J. Neurobiol. , vol.51 , pp. 223-236
    • Sollars, S.I.1    Smith, P.C.2    Hill, D.L.3
  • 62
    • 33846029797 scopus 로고    scopus 로고
    • Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue
    • Ichikawa, H., Terayama, R., Yamaai, T., De Repentigny, Y., Kothary, R. and Sugimoto, T. (2007) Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue. Brain Res., 1129, 142-146.
    • (2007) Brain Res , vol.1129 , pp. 142-146
    • Ichikawa, H.1    Terayama, R.2    Yamaai, T.3    De Repentigny, Y.4    Kothary, R.5    Sugimoto, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.