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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
Rice, GIBond, JAsipu, ABrunette, RLManfield, IWCarr, IMFuller, JCJackson, RMLamb, TBriggs, TAAli, MGornall, HCouthard, LRAeby, AAttardMontalto, SPBertini, EBodemer, CBrockmann, KBrueton, LACorry, PCDesguerre, IFazzi, ECazorla, AGGener, BHamel, BCJHeiberg, AHunter, MVan Der Knaap, MSKumar, RLagae, LLandrieu, PGLourenco, CMMarom, DMcdermott, MFVan Der Merwe, WOrcesi, SPrendiville, JSRasmussen, MShalev, SASoler, DMShinawi, MSpiegel, RTan, TYVanderver, AWakeling, ELWassmer, EWhittaker, ELebon, PStetson, DBBonthron, DTCrow, YJ
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?
DOI: http://dx.doi.org/10.1038/ng.373
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
1061-4036
2023 Impact Factor: 31.7
2023 SCImago Journal Rankings: 17.300
ISI Accession Number ID
WOS:000267786200015
References
References in Scopus

 

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.scopusauthoridLamb, T=35277143600en_US
dc.identifier.scopusauthoridBriggs, TA=23134303700en_US
dc.identifier.scopusauthoridAli, M=7404486700en_US
dc.identifier.scopusauthoridGornall, H=35277168500en_US
dc.identifier.scopusauthoridCouthard, LR=35277322800en_US
dc.identifier.scopusauthoridAeby, A=6602938245en_US
dc.identifier.scopusauthoridAttardMontalto, SP=6701437961en_US
dc.identifier.scopusauthoridBertini, E=26643006000en_US
dc.identifier.scopusauthoridBodemer, C=7006485009en_US
dc.identifier.scopusauthoridBrockmann, K=26643524700en_US
dc.identifier.scopusauthoridBrueton, LA=7003517794en_US
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
dc.identifier.scopusauthoridPrendiville, JS=7006421277en_US
dc.identifier.scopusauthoridRasmussen, M=8715461100en_US
dc.identifier.scopusauthoridShalev, SA=7005556123en_US
dc.identifier.scopusauthoridSoler, DM=22935699200en_US
dc.identifier.scopusauthoridShinawi, M=6603766200en_US
dc.identifier.scopusauthoridSpiegel, R=7101947768en_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridVanderver, A=8864926000en_US
dc.identifier.scopusauthoridWakeling, EL=6701763099en_US
dc.identifier.scopusauthoridWassmer, E=6603875837en_US
dc.identifier.scopusauthoridWhittaker, E=24470545300en_US
dc.identifier.scopusauthoridLebon, P=7102555618en_US
dc.identifier.scopusauthoridStetson, DB=7004541048en_US
dc.identifier.scopusauthoridBonthron, DT=7005470427en_US
dc.identifier.scopusauthoridCrow, YJ=6701792836en_US
dc.identifier.citeulike5022451-
dc.identifier.issnl1061-4036-

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