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Article: Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

TitleMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Authors
Issue Date2009
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 2009, v. 41 n. 7, p. 829-832 How to Cite?
AbstractAicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response. © 2009 Nature America, Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/170414
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorRice, GIen_US
dc.contributor.authorBond, Jen_US
dc.contributor.authorAsipu, Aen_US
dc.contributor.authorBrunette, RLen_US
dc.contributor.authorManfield, IWen_US
dc.contributor.authorCarr, IMen_US
dc.contributor.authorFuller, JCen_US
dc.contributor.authorJackson, RMen_US
dc.contributor.authorLamb, Ten_US
dc.contributor.authorBriggs, TAen_US
dc.contributor.authorAli, Men_US
dc.contributor.authorGornall, Hen_US
dc.contributor.authorCouthard, LRen_US
dc.contributor.authorAeby, Aen_US
dc.contributor.authorAttardMontalto, SPen_US
dc.contributor.authorBertini, Een_US
dc.contributor.authorBodemer, Cen_US
dc.contributor.authorBrockmann, Ken_US
dc.contributor.authorBrueton, LAen_US
dc.contributor.authorCorry, PCen_US
dc.contributor.authorDesguerre, Ien_US
dc.contributor.authorFazzi, Een_US
dc.contributor.authorCazorla, AGen_US
dc.contributor.authorGener, Ben_US
dc.contributor.authorHamel, BCJen_US
dc.contributor.authorHeiberg, Aen_US
dc.contributor.authorHunter, Men_US
dc.contributor.authorVan Der Knaap, MSen_US
dc.contributor.authorKumar, Ren_US
dc.contributor.authorLagae, Len_US
dc.contributor.authorLandrieu, PGen_US
dc.contributor.authorLourenco, CMen_US
dc.contributor.authorMarom, Den_US
dc.contributor.authorMcdermott, MFen_US
dc.contributor.authorVan Der Merwe, Wen_US
dc.contributor.authorOrcesi, Sen_US
dc.contributor.authorPrendiville, JSen_US
dc.contributor.authorRasmussen, Men_US
dc.contributor.authorShalev, SAen_US
dc.contributor.authorSoler, DMen_US
dc.contributor.authorShinawi, Men_US
dc.contributor.authorSpiegel, Ren_US
dc.contributor.authorTan, TYen_US
dc.contributor.authorVanderver, Aen_US
dc.contributor.authorWakeling, ELen_US
dc.contributor.authorWassmer, Een_US
dc.contributor.authorWhittaker, Een_US
dc.contributor.authorLebon, Pen_US
dc.contributor.authorStetson, DBen_US
dc.contributor.authorBonthron, DTen_US
dc.contributor.authorCrow, YJen_US
dc.date.accessioned2012-10-30T06:08:21Z-
dc.date.available2012-10-30T06:08:21Z-
dc.date.issued2009en_US
dc.identifier.citationNature Genetics, 2009, v. 41 n. 7, p. 829-832en_US
dc.identifier.issn1061-4036en_US
dc.identifier.urihttp://hdl.handle.net/10722/170414-
dc.description.abstractAicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response. © 2009 Nature America, Inc. All rights reserved.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_US
dc.relation.ispartofNature Geneticsen_US
dc.subject.meshAmino Acid Substitutionen_US
dc.subject.meshBrain Diseases, Metabolic, Inborn - Genetics - Immunologyen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunity, Innateen_US
dc.subject.meshMonomeric Gtp-Binding Proteins - Genetics - Immunologyen_US
dc.titleMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/ng.373en_US
dc.identifier.pmid19525956-
dc.identifier.scopuseid_2-s2.0-67649861901en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67649861901&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume41en_US
dc.identifier.issue7en_US
dc.identifier.spage829en_US
dc.identifier.epage832en_US
dc.identifier.isiWOS:000267786200015-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridRice, GI=35277372900en_US
dc.identifier.scopusauthoridBond, J=35430747100en_US
dc.identifier.scopusauthoridAsipu, A=6506924301en_US
dc.identifier.scopusauthoridBrunette, RL=35277266800en_US
dc.identifier.scopusauthoridManfield, IW=6603105681en_US
dc.identifier.scopusauthoridCarr, IM=7005288760en_US
dc.identifier.scopusauthoridFuller, JC=25921439900en_US
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dc.identifier.scopusauthoridBodemer, C=7006485009en_US
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dc.identifier.scopusauthoridCorry, PC=7005699638en_US
dc.identifier.scopusauthoridDesguerre, I=7003904896en_US
dc.identifier.scopusauthoridFazzi, E=7004236903en_US
dc.identifier.scopusauthoridCazorla, AG=54895858600en_US
dc.identifier.scopusauthoridGener, B=7801345681en_US
dc.identifier.scopusauthoridHamel, BCJ=26660768200en_US
dc.identifier.scopusauthoridHeiberg, A=7005534502en_US
dc.identifier.scopusauthoridHunter, M=23488969800en_US
dc.identifier.scopusauthoridVan Der Knaap, MS=7006627134en_US
dc.identifier.scopusauthoridKumar, R=35734222200en_US
dc.identifier.scopusauthoridLagae, L=24379405500en_US
dc.identifier.scopusauthoridLandrieu, PG=7006902025en_US
dc.identifier.scopusauthoridLourenco, CM=22934659700en_US
dc.identifier.scopusauthoridMarom, D=22935072000en_US
dc.identifier.scopusauthoridMcDermott, MF=7202058289en_US
dc.identifier.scopusauthoridVan Der Merwe, W=7003886026en_US
dc.identifier.scopusauthoridOrcesi, S=6603442941en_US
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dc.identifier.scopusauthoridSoler, DM=22935699200en_US
dc.identifier.scopusauthoridShinawi, M=6603766200en_US
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dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridVanderver, A=8864926000en_US
dc.identifier.scopusauthoridWakeling, EL=6701763099en_US
dc.identifier.scopusauthoridWassmer, E=6603875837en_US
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dc.identifier.scopusauthoridBonthron, DT=7005470427en_US
dc.identifier.scopusauthoridCrow, YJ=6701792836en_US
dc.identifier.citeulike5022451-

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