Nucleic acid by-products and chronic inflammation

被引:19
作者
Alarcon-Riquelme, Marta E. [1 ]
机构
[1] Univ Uppsala, Rudbeck Lab, Dept Genet & Pathol, S-75185 Uppsala, Sweden
关键词
D O I
10.1038/ng0806-866
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Aicardi-Goutieres syndrome (AGS) is an autosomal recessive condition of progressive encephalopathy of early childhood, very similar to congenital viral infections. Two new papers identify four genes mutated in AGS and implicate the processing of DNA and RNA by-products in its pathogenesis.
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页码:866 / 867
页数:2
相关论文
共 14 条
[1]   A PROGRESSIVE FAMILIAL ENCEPHALOPATHY IN INFANCY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS [J].
AICARDI, J ;
GOUTIERES, F .
ANNALS OF NEUROLOGY, 1984, 15 (01) :49-54
[2]   Systemic lupus erythematosus or Aicardi-Goutieres syndrome? [J].
Aicardi, J ;
Goutières, F .
NEUROPEDIATRICS, 2000, 31 (03) :113-113
[3]   Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus [J].
Baechler, EC ;
Batliwalla, FM ;
Karypis, G ;
Gaffney, PM ;
Ortmann, WA ;
Espe, KJ ;
Shark, KB ;
Grande, WJ ;
Hughes, KM ;
Kapur, V ;
Gregersen, PK ;
Behrens, TW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (05) :2610-2615
[4]  
Barth Peter G, 2002, Eur J Paediatr Neurol, V6 Suppl A, pA27, DOI 10.1053/ejpn.2002.0570
[5]   Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection [J].
Crow, Yanick J. ;
Leitch, Andrea ;
Hayward, Bruce E. ;
Garner, Anna ;
Parmar, Rekha ;
Griffith, Elen ;
Ali, Manir ;
Semple, Colin ;
Aicardi, Jean ;
Babul-Hirji, Riyana ;
Baumann, Clarisse ;
Baxter, Peter ;
Bertini, Enrico ;
Chandler, Kate E. ;
Chitayat, David ;
Cau, Daniel ;
Dery, Catherine ;
Fazzi, Elisa ;
Goizet, Cyril ;
King, Mary D. ;
Klepper, Joerg ;
Lacombe, Didier ;
Lanzi, Giovanni ;
Lyall, Hermione ;
Martinez-Frias, Maria Luisa ;
Mathieu, Michele ;
McKeown, Carole ;
Monier, Anne ;
Oade, Yvette ;
Quarrell, Oliver W. ;
Rittey, Christopher D. ;
Rogers, R. Curtis ;
Sanchis, Amparo ;
Stephenson, John B. P. ;
Tacke, Uta ;
Till, Marianne ;
Tolmie, John L. ;
Tomlin, Pam ;
Voit, Thomas ;
Weschke, Bernhard ;
Woods, C. Geoffrey ;
Lebon, Pierre ;
Bonthron, David T. ;
Ponting, Chris P. ;
Jackson, Andrew P. .
NATURE GENETICS, 2006, 38 (08) :910-916
[6]   Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus [J].
Crow, Yanick J. ;
Hayward, Bruce E. ;
Parmar, Rekha ;
Robins, Peter ;
Leitch, Andrea ;
Ali, Manir ;
Black, Deborah N. ;
van Bokhoven, Hans ;
Brunner, Han G. ;
Hamel, Ben C. ;
Corry, Peter C. ;
Cowan, Frances M. ;
Frints, Suzanne G. ;
Klepper, Joerg ;
Livingston, John H. ;
Lynch, Sally Ann ;
Massey, Roger F. ;
Meritet, Jean Francois ;
Michaud, Jacques L. ;
Ponsot, Gerard ;
Voit, Thomas ;
Lebon, Pierre ;
Bonthron, David T. ;
Jackson, Andrew P. ;
Barnes, Deborah E. ;
Lindahl, Tomas .
NATURE GENETICS, 2006, 38 (08) :917-920
[7]   Aicardi-Goutieres syndrome:: An update and results of interferon-α studies [J].
Goutières, F ;
Aicardi, J ;
Barth, PG ;
Lebon, P .
ANNALS OF NEUROLOGY, 1998, 44 (06) :900-907
[8]   A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus [J].
Graham, RR ;
Kozyrev, SV ;
Baechler, EC ;
Reddy, MPL ;
Plenge, RM ;
Bauer, JW ;
Ortmann, WA ;
Koeuth, T ;
Escribano, MF ;
Pons-Estel, B ;
Petri, M ;
Daly, M ;
Gregersen, PK ;
Martin, J ;
Altshuler, D ;
Behrens, TW ;
Alarcón-Riquelme, ME .
NATURE GENETICS, 2006, 38 (05) :550-555
[9]   Endogenous adjuvant activity of the RNA components of lupus autoantigens Sm/RNP and Ro 60 [J].
Kelly, Kindra M. ;
Zhuang, Haoyang ;
Nacionales, Dina C. ;
Scumpia, Philip O. ;
Lyons, Robert ;
Akaogi, Jun ;
Lee, Pui ;
Williams, Bryan ;
Yamamoto, Masahiro ;
Akira, Shizuo ;
Satoh, Minoru ;
Reeves, Westley H. .
ARTHRITIS AND RHEUMATISM, 2006, 54 (05) :1557-1567
[10]   INTRATHECAL SYNTHESIS OF INTERFERON-ALPHA IN INFANTS WITH PROGRESSIVE FAMILIAL ENCEPHALOPATHY [J].
LEBON, P ;
BADOUAL, J ;
PONSOT, G ;
GOUTIERES, F ;
HEMEURYCUKIER, F ;
AICARDI, J .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1988, 84 (2-3) :201-208