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Volumn 154, Issue 9, 2013, Pages 3209-3218

Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; GLUTATHIONE DISULFIDE; HYDROCORTISONE; HYDROGEN PEROXIDE; SHORT HAIRPIN RNA;

EID: 84883147502     PISSN: 00137227     EISSN: 19457170     Source Type: Journal    
DOI: 10.1210/en.2013-1241     Document Type: Article
Times cited : (46)

References (40)
  • 1
    • 0017845477 scopus 로고
    • Familial gluco-corticoid deficiency with achalasia of the cardia and deficient tear production
    • Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial gluco-corticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978;1:1284-1286.
    • (1978) Lancet , vol.1 , pp. 1284-1286
    • Allgrove, J.1    Clayden, G.S.2    Grant, D.B.3    Macaulay, J.C.4
  • 3
    • 0028950105 scopus 로고
    • The '4A' syndrome: Adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities
    • Gazarian M, Cowell CT, Bonney M, Grigor WG. The '4A' syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr. 1995;154:18-23.
    • (1995) Eur J Pediatr. , vol.154 , pp. 18-23
    • Gazarian, M.1    Cowell, C.T.2    Bonney, M.3    Grigor, W.G.4
  • 5
    • 84856700305 scopus 로고    scopus 로고
    • Neurological features in adult Triple-A (Allgrove) syndrome
    • Vallet A-E, Verschueren A, Petiot P, et al. Neurological features in adult Triple-A (Allgrove) syndrome. J Neurol. 2012;259:39-46.
    • (2012) J Neurol. , vol.259 , pp. 39-46
    • Vallet, A.-E.1    Verschueren, A.2    Petiot, P.3
  • 7
    • 0036896407 scopus 로고    scopus 로고
    • Clinical and genetic characterization of families with triple A (Allgrove) syndrome
    • Houlden H, Smith S, De Carvalho M, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain. 2002;125:2681-2690.
    • (2002) Brain. , vol.125 , pp. 2681-2690
    • Houlden, H.1    Smith, S.2    De Carvalho, M.3
  • 8
    • 11244262589 scopus 로고    scopus 로고
    • The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
    • Huebner A, KaindlAM,Knobeloch KP, Petzold H, MannP, Koehler K. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res. 2004;30:891-899.
    • (2004) Endocr Res , vol.30 , pp. 891-899
    • Huebner, A.1    Kaindl, A.M.2    Knobeloch, K.P.3    Petzold, H.4    Mann, P.5    Koehler, K.6
  • 9
    • 67649653586 scopus 로고    scopus 로고
    • Tissue specific expression and subcellular localization of ALADIN, the absence of which causeshuman triple A syndrome
    • Cho AR, Yang KJ, Bae Y, et al. Tissue specific expression and subcellular localization of ALADIN, the absence of which causeshuman triple A syndrome. Exp Mol Med. 2009;41:381-386.
    • (2009) Exp Mol Med , vol.41 , pp. 381-386
    • Cho, A.R.1    Yang, K.J.2    Bae, Y.3
  • 10
    • 12844268119 scopus 로고    scopus 로고
    • Identification of the sites of expression of triple Asyndromem-RNA in the rat using in situ hybridisation
    • Storr HL, Clark AJ, Priestley JV, Michael GJ. Identification of the sites of expression of triple Asyndromem-RNA in the rat using in situ hybridisation. Neuroscience. 2005;131:113-123.
    • (2005) Neuroscience , vol.131 , pp. 113-123
    • Storr, H.L.1    Clark, A.J.2    Priestley, J.V.3    Michael, G.J.4
  • 12
    • 78649514657 scopus 로고    scopus 로고
    • The interplay of infection and genetics in acute necrotizing encephalopathy
    • Neilson DE. The interplay of infection and genetics in acute necrotizing encephalopathy. Curr Opin Pediatr. 2010;22:751-757.
    • (2010) Curr Opin Pediatr , vol.22 , pp. 751-757
    • Neilson, D.E.1
  • 13
    • 33746855835 scopus 로고    scopus 로고
    • Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis
    • Basel-Vanagaite L, Muncher L, Straussberg R, et al. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006;60:214-222.
    • (2006) Ann Neurol , vol.60 , pp. 214-222
    • Basel-Vanagaite, L.1    Muncher, L.2    Straussberg, R.3
  • 14
    • 58049220178 scopus 로고    scopus 로고
    • Infection-triggered familial or recurrent cases of acute necrotising encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
    • Neilson DE, Adams MD, Orr CM, et al. Infection-triggered familial or recurrent cases of acute necrotising encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.Am J Hum Genet. 2009;84:44-51.
    • (2009) Am J Hum Genet , vol.84 , pp. 44-51
    • Neilson, D.E.1    Adams, M.D.2    Orr, C.M.3
  • 15
    • 0037947770 scopus 로고    scopus 로고
    • The nuclear pore complex ALADIN is mislocalized in triple A syndrome
    • Cronshaw JM, Matunis MJ. The nuclear pore complex ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA. 2003; 100:5823-5827.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 5823-5827
    • Cronshaw, J.M.1    Matunis, M.J.2
  • 16
    • 33745368247 scopus 로고    scopus 로고
    • Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome: Shedding light on an unexpected splice mutation
    • Krumbholz M, Koehler K, Huebner A. Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome: shedding light on an unexpected splice mutation. Biochem Cell Biol. 2006;84:243-249.
    • (2006) Biochem Cell Biol , vol.84 , pp. 243-249
    • Krumbholz, M.1    Koehler, K.2    Huebner, A.3
  • 17
    • 33144483974 scopus 로고    scopus 로고
    • 1482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome
    • 1482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc Natl Acad Sci USA. 2006;103:2298-2303.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 2298-2303
    • Hirano, M.1    Furiya, Y.2    Asai, H.3    Yasui, A.4    Ueno, S.5
  • 19
    • 78651285249 scopus 로고    scopus 로고
    • Intracellular ROS level is increased in fibroblasts of triple A syndrome patients
    • Kind B, Koehler K, Krumbholz M, Landgraf D, Huebner A. Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. J Mol Med. 2010;88:1233-1242.
    • (2010) J Mol Med , vol.88 , pp. 1233-1242
    • Kind, B.1    Koehler, K.2    Krumbholz, M.3    Landgraf, D.4    Huebner, A.5
  • 20
    • 73249122503 scopus 로고    scopus 로고
    • Deficiency of ferritin heavy-chain nuclear import in triple A syndrome implies nuclear oxidative damage as the primary disease mechanism
    • Storr HL, Kind B, Parfitt DA, et al. Deficiency of ferritin heavy-chain nuclear import in triple A syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol. 2009;12: 2086-2094.
    • (2009) Mol Endocrinol , vol.12 , pp. 2086-2094
    • Storr, H.L.1    Kind, B.2    Parfitt, D.A.3
  • 21
    • 0032509239 scopus 로고    scopus 로고
    • Importance of poly(ADP-ribose) polymerase and its cleavage in apoptosis. Lesson from an uncleavable mutant
    • Oliver FJ, de la Rubia G, Rolli V, Ruiz-Ruiz MC, de Murcia G, Murcia JM. Importance of poly(ADP-ribose) polymerase and its cleavage in apoptosis. Lesson from an uncleavable mutant. J Biol Chem. 1998;273:33533-33539.
    • (1998) J Biol Chem. , vol.273 , pp. 33533-33539
    • Oliver, F.J.1    De La Rubia, G.2    Rolli, V.3    Ruiz-Ruiz, M.C.4    De Murcia, G.5    Murcia, J.M.6
  • 22
    • 0029068871 scopus 로고
    • Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis
    • Nicholson DW, Ali A, Thornberry NA, et al. Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis. Nature. 1995;376:37-43.
    • (1995) Nature , vol.376 , pp. 37-43
    • Nicholson, D.W.1    Ali, A.2    Thornberry, N.A.3
  • 23
    • 0034519843 scopus 로고    scopus 로고
    • Triple A syndrome - Clinical aspects and molecular genetics
    • Huebner A, Yoon SJ, Ozkinay F, et al. Triple A syndrome - clinical aspects and molecular genetics. Endocr Res. 2000;26:751-759.
    • (2000) Endocr Res. , vol.26 , pp. 751-759
    • Huebner, A.1    Yoon, S.J.2    Ozkinay, F.3
  • 24
    • 33644555819 scopus 로고    scopus 로고
    • Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome
    • Huebner A, Mann P, Rohde E, et al. Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol. 2006;26:1879-1887.
    • (2006) Mol Cell Biol. , vol.26 , pp. 1879-1887
    • Huebner, A.1    Mann, P.2    Rohde, E.3
  • 25
    • 79960708707 scopus 로고    scopus 로고
    • Nucleoporins: Leaving the nuclear pore complex for a successful mitosis
    • Chatel G, Fahrenkrog B. Nucleoporins: leaving the nuclear pore complex for a successful mitosis. Cell Signal. 2011;23:1555-1562.
    • (2011) Cell Signal , vol.23 , pp. 1555-1562
    • Chatel, G.1    Fahrenkrog, B.2
  • 26
    • 17444411537 scopus 로고    scopus 로고
    • A Rae1-containing ribonucleoprotein complex is required for mitotic spindle assembly
    • Blower MD, Nachury M, Heald R, Weis K. A Rae1-containing ribonucleoprotein complex is required for mitotic spindle assembly. Cell. 2005;121:223-234.
    • (2005) Cell , vol.121 , pp. 223-234
    • Blower, M.D.1    Nachury, M.2    Heald, R.3    Weis, K.4
  • 27
    • 0038129605 scopus 로고    scopus 로고
    • Tissue growth and remodelling of the embryonic and adult adrenal gland
    • Bland ML, Desclozeaux M, Ingraham HA. Tissue growth and remodelling of the embryonic and adult adrenal gland. Ann NY Acad Sci. 2003;995:59-72.
    • (2003) Ann NY Acad Sci. , vol.995 , pp. 59-72
    • Bland, M.L.1    Desclozeaux, M.2    Ingraham, H.A.3
  • 28
    • 84857116578 scopus 로고    scopus 로고
    • Reactive oxygen species (ROS) homeostasis and redox regulation in cellular signaling
    • Ray PD, Huang BW, Tsuji Y. Reactive oxygen species (ROS) homeostasis and redox regulation in cellular signaling. Cell Signal. 2012;24:981-990.
    • (2012) Cell Signal. , vol.24 , pp. 981-990
    • Ray, P.D.1    Huang, B.W.2    Tsuji, Y.3
  • 29
    • 4544262205 scopus 로고    scopus 로고
    • Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: A case report
    • Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol. 2004; 4:7.
    • (2004) BMC Ophthalmol , vol.4 , pp. 7
    • Brooks, B.P.1    Kleta, R.2    Caruso, R.C.3    Stuart, C.4    Ludlow, J.5    Stratakis, C.A.6
  • 30
    • 0037408520 scopus 로고    scopus 로고
    • Achalasia of the cardia in Allgrove's (triple A) syndrome: Histo-pathologic study of 10 cases
    • Khelif K, De Laet MH, Chaouachi B, Segers V, Vanderwinden JM. Achalasia of the cardia in Allgrove's (triple A) syndrome: histo-pathologic study of 10 cases. Am J Surg Pathol. 2003;27:667-672.
    • (2003) Am J Surg Pathol. , vol.27 , pp. 667-672
    • Khelif, K.1    De Laet, M.H.2    Chaouachi, B.3    Segers, V.4    Vanderwinden, J.M.5
  • 31
    • 0037661090 scopus 로고    scopus 로고
    • Reactive oxygen disrupts mitochondria in MA-10 tumor Leydig cells and inhibits steroidogenic acute regulatory (StAR) protein and steroidogenesis
    • Diemer T, Allen JA, Hales KH, Hales DB. Reactive oxygen disrupts mitochondria in MA-10 tumor Leydig cells and inhibits steroidogenic acute regulatory (StAR) protein and steroidogenesis. Endocrinology. 2003;144:2882-2891.
    • (2003) Endocrinology , vol.144 , pp. 2882-2891
    • Diemer, T.1    Allen, J.A.2    Hales, K.H.3    Hales, D.B.4
  • 32
    • 77951544400 scopus 로고    scopus 로고
    • Perfluorododecanoic acid-induced steroidogenic inhibition is associated with steroidogenic acute regulatory protein and reactive oxygen species in cAMP-stimulated Leydig cells
    • Shi Z, Feng Y,WangJ, Zhang H, Ding L, Dai J. Perfluorododecanoic acid-induced steroidogenic inhibition is associated with steroidogenic acute regulatory protein and reactive oxygen species in cAMP-stimulated Leydig cells. Toxicol Sci. 2010;114:285-294.
    • (2010) Toxicol Sci , vol.114 , pp. 285-294
    • Shi, Z.1    Feng, Y.2    Wang, J.3    Zhang, H.4    Ding, L.5    Dai, J.6
  • 33
    • 33646701679 scopus 로고    scopus 로고
    • Antioxidant protective mechanisms against reactive oxygen species (ROS) generated by mitochondrial P450 systems in steroidogenic cells
    • Hanukoglu I. Antioxidant protective mechanisms against reactive oxygen species (ROS) generated by mitochondrial P450 systems in steroidogenic cells. Drug Metab Rev. 2006;38:171-196.
    • (2006) Drug Metab Rev , vol.38 , pp. 171-196
    • Hanukoglu, I.1
  • 34
    • 84861964383 scopus 로고    scopus 로고
    • Feedback control of adrenal steroid-ogenesis via H2O2-dependent, reversible inactivation of peroxiredoxin III in mitochondria
    • Kil IS, Lee SK, Ryu KW, et al. Feedback control of adrenal steroid-ogenesis via H2O2-dependent, reversible inactivation of peroxiredoxin III in mitochondria. Mol Cell. 2012;46:584-594.
    • (2012) Mol Cell. , vol.46 , pp. 584-594
    • Kil, I.S.1    Lee, S.K.2    Ryu, K.W.3
  • 35
    • 84876590564 scopus 로고    scopus 로고
    • Deleterious cholesterol hydroperoxide trafficking in steroidogenic acute regulatory (StAR) protein-expressing MA-10 Leydig cells: Implications for oxidative stress-impaired steroidogenesis
    • Korytowski W, Pilat A, Schmitt JC, Girotti AW. Deleterious cholesterol hydroperoxide trafficking in steroidogenic acute regulatory (StAR) protein-expressing MA-10 Leydig cells: implications for oxidative stress-impaired steroidogenesis. J Biol Chem. 2013;288: 11509-11519.
    • (2013) J Biol Chem. , vol.288 , pp. 11509-11519
    • Korytowski, W.1    Pilat, A.2    Schmitt, J.C.3    Girotti, A.W.4
  • 36
    • 70349921311 scopus 로고    scopus 로고
    • Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
    • Metherell LA, Naville D, Halaby G, et al. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab. 2009;94:3865-3871.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3865-3871
    • Metherell, L.A.1    Naville, D.2    Halaby, G.3
  • 37
    • 79957611314 scopus 로고    scopus 로고
    • Characterization of novel St AR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia
    • Flück CE, Pandey AV, Dick B, et al. Characterization of novel St AR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. PLoS One. 2011;6(5):e20178.
    • (2011) PLoS One. , vol.6 , Issue.5
    • Flück, C.E.1    Pandey, A.V.2    Dick, B.3
  • 38
    • 84864042465 scopus 로고    scopus 로고
    • X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
    • Kemp SJ, Berger J, Aubourg P. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta. 2012;1822:1465-1474.
    • (2012) Biochim Biophys Acta. , vol.1822 , pp. 1465-1474
    • Kemp, S.J.1    Berger, J.2    Aubourg, P.3
  • 39
    • 84864032314 scopus 로고    scopus 로고
    • Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?
    • Galea E, Launay N, Portero-Otin M, et al. Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases? Biochim Biophys Acta. 2012;1822:1475-1488.
    • (2012) Biochim Biophys Acta. , vol.1822 , pp. 1475-1488
    • Galea, E.1    Launay, N.2    Portero-Otin, M.3
  • 40
    • 84863003306 scopus 로고    scopus 로고
    • Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
    • Meimaridou E, Kowalczyk J, Guasti L, et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 2012;44:740-742.
    • (2012) Nat Genet. , vol.44 , pp. 740-742
    • Meimaridou, E.1    Kowalczyk, J.2    Guasti, L.3


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