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Volumn 194, Issue 8, 2015, Pages 3623-3633

Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; GAMMA INTERFERON INDUCIBLE PROTEIN 10; HLA C ANTIGEN; INTERLEUKIN 6; RANTES; SHORT HAIRPIN RNA; ADAR1 PROTEIN, HUMAN; ADENOSINE DEAMINASE; CYTOKINE; EXODEOXYRIBONUCLEASE; MONOMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; PHOSPHOPROTEIN; RIBONUCLEASE H; RIBONUCLEASE HII; RNA BINDING PROTEIN; SAMHD1 PROTEIN, HUMAN; THREE PRIME REPAIR EXONUCLEASE 1;

EID: 84927582093     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1401334     Document Type: Article
Times cited : (37)

References (49)
  • 1
    • 0021336060 scopus 로고
    • A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
    • Aicardi, J., and F. Goutières. 1984. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann. Neurol. 15:49-54.
    • (1984) Ann. Neurol. , vol.15 , pp. 49-54
    • Aicardi, J.1    Goutières, F.2
  • 8
    • 36248988008 scopus 로고    scopus 로고
    • Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease
    • Yang, Y.-G., T. Lindahl, and D. E. Barnes. 2007. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 131:873-886.
    • (2007) Cell , vol.131 , pp. 873-886
    • Yang, Y.-G.1    Lindahl, T.2    Barnes, D.E.3
  • 9
    • 49549100511 scopus 로고    scopus 로고
    • Trex1 prevents cell-intrinsic initiation of autoimmunity
    • Stetson, D. B., J. S. Ko, T. Heidmann, and R. Medzhitov. 2008. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 134:587-598.
    • (2008) Cell , vol.134 , pp. 587-598
    • Stetson, D.B.1    Ko, J.S.2    Heidmann, T.3    Medzhitov, R.4
  • 10
    • 84856301080 scopus 로고    scopus 로고
    • Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease
    • Gall, A., P. Treuting, K. B. Elkon, Y.-M. Loo, M. Gale, Jr., G. N. Barber, and D. B. Stetson. 2012. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity 36:120-131.
    • (2012) Immunity , vol.36 , pp. 120-131
    • Gall, A.1    Treuting, P.2    Elkon, K.B.3    Loo, Y.-M.4    Gale, M.J.5    Barber, G.N.6    Stetson, D.B.7
  • 11
  • 12
    • 44949218591 scopus 로고    scopus 로고
    • Astrocytes produce interferon-a and CXCL10, but not IL-6 or CXCL8, in Aicardi-Goutières syndrome
    • Van Heteren, J. T., F. Rozenberg, E. Aronica, D. Troost, P. Lebon, and T. W. Kuijpers. 2008. Astrocytes produce interferon-a and CXCL10, but not IL-6 or CXCL8, in Aicardi-Goutières syndrome. Glia 56:568-578.
    • (2008) Glia , vol.56 , pp. 568-578
    • Van Heteren, J.T.1    Rozenberg, F.2    Aronica, E.3    Troost, D.4    Lebon, P.5    Kuijpers, T.W.6
  • 14
    • 84887607415 scopus 로고    scopus 로고
    • Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study
    • Rice, G. I., G. M. A. Forte, M. Szynkiewicz, D. S. Chase, A. Aeby, M. S. Abdel-Hamid, S. Ackroyd, R. Allcock, K. M. Bailey, U. Balottin, et al. 2013. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 12:1159-1169.
    • (2013) Lancet Neurol. , vol.12 , pp. 1159-1169
    • Rice, G.I.1    Forte, G.M.A.2    Szynkiewicz, M.3    Chase, D.S.4    Aeby, A.5    Abdel-Hamid, M.S.6    Ackroyd, S.7    Allcock, R.8    Bailey, K.M.9    Balottin, U.10
  • 17
    • 84866462296 scopus 로고    scopus 로고
    • Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity
    • Hiller, B., M. Achleitner, S. Glage, R. Naumann, R. Behrendt, and A. Roers. 2012. Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity. J. Exp. Med. 209:1419-1426.
    • (2012) J. Exp. Med. , vol.209 , pp. 1419-1426
    • Hiller, B.1    Achleitner, M.2    Glage, S.3    Naumann, R.4    Behrendt, R.5    Roers, A.6
  • 18
  • 22
    • 0033172887 scopus 로고    scopus 로고
    • Aicardi-Goutières syndrome: A genetic microangiopathy?
    • Barth, P. G., A. Walter, and I. Van Gelderen. 1999. Aicardi-Goutières syndrome: a genetic microangiopathy? Acta Neuropathol. 98:212-216.
    • (1999) Acta Neuropathol. , vol.98 , pp. 212-216
    • Barth, P.G.1    Walter, A.2    Van Gelderen, I.3
  • 23
    • 18444387671 scopus 로고    scopus 로고
    • Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutières syndrome.report of two sisters
    • Rasmussen, M., K. Skullerud, S. J. Bakke, P. Lebon, and F. L. Jahnsen. 2005. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutières syndrome.report of two sisters. Neuropediatrics 36:40-44.
    • (2005) Neuropediatrics , vol.36 , pp. 40-44
    • Rasmussen, M.1    Skullerud, K.2    Bakke, S.J.3    Lebon, P.4    Jahnsen, F.L.5
  • 25
    • 78049446781 scopus 로고    scopus 로고
    • Cerebral arterial stenoses and stroke: Novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
    • Thiele, H., M. Du Moulin, K. Barczyk, C. George, W. Schwindt, G. Nürnberg, M. Frosch, G. Kurlemann, J. Roth, P. Nürnberg, and F. Rutsch. 2010. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum. Mutat. 31:E1836-E1850.
    • (2010) Hum. Mutat. , vol.31 , pp. E1836-E1850
    • Thiele, H.1    Du Moulin, M.2    Barczyk, K.3    George, C.4    Schwindt, W.5    Nürnberg, G.6    Frosch, M.7    Kurlemann, G.8    Roth, J.9    Nürnberg, P.10    Rutsch, F.11
  • 28
    • 79960605523 scopus 로고    scopus 로고
    • Cerebral vasculopathy is a common feature in Aicardi-Goutières syndrome associated with SAMHD1 mutations
    • author reply E233
    • Du Moulin, M., P. Nürnberg, Y. J. Crow, and F. Rutsch. 2011. Cerebral vasculopathy is a common feature in Aicardi-Goutières syndrome associated with SAMHD1 mutations. Proc. Natl. Acad. Sci. USA 108:E232; author reply E233.
    • (2011) Proc. Natl. Acad. Sci. USA , vol.108 , pp. E232
    • Du Moulin, M.1    Nürnberg, P.2    Crow, Y.J.3    Rutsch, F.4
  • 29
    • 34748919514 scopus 로고    scopus 로고
    • A novel, immortal, and multipotent human neural stem cell line generating functional neurons and oligodendrocytes
    • De Filippis, L., G. Lamorte, E. Y. Snyder, A. Malgaroli, and A. L. Vescovi. 2007. A novel, immortal, and multipotent human neural stem cell line generating functional neurons and oligodendrocytes. Stem Cells 25:2312-2321.
    • (2007) Stem Cells , vol.25 , pp. 2312-2321
    • De Filippis, L.1    Lamorte, G.2    Snyder, E.Y.3    Malgaroli, A.4    Vescovi, A.L.5
  • 31
    • 33747794587 scopus 로고    scopus 로고
    • Genome-scale loss-of-function screening with a lentiviral RNAi library
    • Root, D. E., N. Hacohen, W. C. Hahn, E. S. Lander, and D. M. Sabatini. 2006. Genome-scale loss-of-function screening with a lentiviral RNAi library. Nat. Methods 3:715-719.
    • (2006) Nat. Methods , vol.3 , pp. 715-719
    • Root, D.E.1    Hacohen, N.2    Hahn, W.C.3    Lander, E.S.4    Sabatini, D.M.5
  • 32
    • 34249713085 scopus 로고    scopus 로고
    • Dose-dependent inhibition of proteasome activity by a mutant ubiquitin associated with neurodegenerative disease
    • Van Tijn, P., F. M. S. De Vrij, K. G. Schuurman, N. P. Dantuma, D. F. Fischer, F. W. Van Leeuwen, and E. M. Hol. 2007. Dose-dependent inhibition of proteasome activity by a mutant ubiquitin associated with neurodegenerative disease. J. Cell Sci. 120:1615-1623.
    • (2007) J. Cell Sci. , vol.120 , pp. 1615-1623
    • Van Tijn, P.1    De Vrij, F.M.S.2    Schuurman, K.G.3    Dantuma, N.P.4    Fischer, D.F.5    Van Leeuwen, F.W.6    Hol, E.M.7
  • 34
    • 34347218991 scopus 로고    scopus 로고
    • In vitro scratch assay: A convenient and inexpensive method for analysis of cell migration in vitro
    • Liang, C.-C., A. Y. Park, and J.-L. Guan. 2007. In vitro scratch assay: a convenient and inexpensive method for analysis of cell migration in vitro. Nat. Protoc. 2:329-333.
    • (2007) Nat. Protoc. , vol.2 , pp. 329-333
    • Liang, C.-C.1    Park, A.Y.2    Guan, J.-L.3
  • 39
    • 84856893266 scopus 로고    scopus 로고
    • Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutières syndrome
    • Izzotti, A., M. Longobardi, C. Cartiglia, F. Anzuini, P. Arrigo, E. Fazzi, S. Orcesi, R. L. Piana, and A. Pulliero. 2012. Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutières syndrome. J. Child Neurol. 27:51-60.
    • (2012) J. Child Neurol. , vol.27 , pp. 51-60
    • Izzotti, A.1    Longobardi, M.2    Cartiglia, C.3    Anzuini, F.4    Arrigo, P.5    Fazzi, E.6    Orcesi, S.7    Piana, R.L.8    Pulliero, A.9
  • 43
    • 70749147276 scopus 로고    scopus 로고
    • RNA adenosine deaminase ADAR1 deficiency leads to increased activation of protein kinase PKR and reduced vesicular stomatitis virus growth following interferon treatment
    • Li, Z., K. C. Wolff, and C. E. Samuel. 2010. RNA adenosine deaminase ADAR1 deficiency leads to increased activation of protein kinase PKR and reduced vesicular stomatitis virus growth following interferon treatment. Virology 396:316-322.
    • (2010) Virology , vol.396 , pp. 316-322
    • Li, Z.1    Wolff, K.C.2    Samuel, C.E.3
  • 44
    • 0036269757 scopus 로고    scopus 로고
    • Cancer immunotherapy: The interferon-alpha experience
    • Kirkwood, J. 2002. Cancer immunotherapy: the interferon-alpha experience. Semin. Oncol. 29 (3, Suppl. 7) 18-26.
    • (2002) Semin. Oncol. , vol.29 , Issue.3 , pp. 18-26
    • Kirkwood, J.1
  • 45
    • 4244215954 scopus 로고    scopus 로고
    • Interferon and Aicardi-Goutières syndrome
    • discussion A55-A58, A77-A86
    • Lebon, P., J. F. Meritet, A. Krivine, and F. Rozenberg. 2002. Interferon and Aicardi-Goutières syndrome. Eur. J. Paediatr. Neurol. 6 (Suppl. A):A47-A53; discussion A55-A58, A77-A86.
    • (2002) Eur. J. Paediatr. Neurol. , vol.6 , pp. A47-A53
    • Lebon, P.1    Meritet, J.F.2    Krivine, A.3    Rozenberg, F.4
  • 48
    • 33645989466 scopus 로고    scopus 로고
    • Identification of a novel pathway essential for the immediate-early, interferon-independent antiviral response to enveloped virions
    • Noyce, R. S., S. E. Collins, and K. L. Mossman. 2006. Identification of a novel pathway essential for the immediate-early, interferon-independent antiviral response to enveloped virions. J. Virol. 80:226-235.
    • (2006) J. Virol. , vol.80 , pp. 226-235
    • Noyce, R.S.1    Collins, S.E.2    Mossman, K.L.3


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