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Sequence of SAMH1_HUMAN

EC Number:3.1.4

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Q9Y3Z3
Homo sapiens
626
72201
Reaction
Other sequences found for EC No. 3.1.4

General information:

Sequence
show sequence in fasta format
  0 MQRADSEQPS KRPRCDDSPR TPSNTPSAEA DWSPGLELHP DYKTWGPEQV CSFLRRGGFE
 60 EPVLLKNIRE NEITGALLPC LDESRFENLG VSSLGERKKL LSYIQRLVQI HVDTMKVIND
120 PIHGHIELHP LLVRIIDTPQ FQRLRYIKQL GGGYYVFPGA SHNRFEHSLG VGYLAGCLVH
180 ALGEKQPELQ ISERDVLCVQ IAGLCHDLGH GPFSHMFDGR FIPLARPEVK WTHEQGSVMM
240 FEHLINSNGI KPVMEQYGLI PEEDICFIKE QIVGPLESPV EDSLWPYKGR PENKSFLYEI
300 VSNKRNGIDV DKWDYFARDC HHLGIQNNFD YKRFIKFARV CEVDNELRIC ARDKEVGNLY
360 DMFHTRNSLH RRAYQHKVGN IIDTMITDAF LKADDYIEIT GAGGKKYRIS TAIDDMEAYT
420 KLTDNIFLEI LYSTDPKLKD AREILKQIEY RNLFKYVGET QPTGQIKIKR EDYESLPKEV
480 ASAKPKVLLD VKLKAEDFIV DVINMDYGMQ EKNPIDHVSF YCKTAPNRAI RITKNQVSQL
540 LPEKFAEQLI RVYCKKVDRK SLYAARQYFV QWCADRNFTK PQDGDVIAPL ITPQKKEWND
600 STSVQNPTRL REASKSRVQL FKDDPM
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
1252510
Li N.,Zhang W.,Cao X.
Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells.
Immunol. Lett.
74
221-224
2000
1252512
Wiemann S.,Weil B.,Wellenreuther R.,Gassenhuber J.,Glassl S.,Ansorge W.,Boecher M.,Bloecker H.,Bauersachs S.,Blum H.,Lauber J.,Duesterhoeft A.,Beyer A.,Koehrer K.,Strack N.,Mewes H.-W.,Ottenwaelder B.,Obermaier B.,Tampe J.,Heubner D.,Wambutt R.,Korn B.,Klein M.,Poustka A.
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Genome Res.
11
422-435
2001
1252513
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
1252514
Deloukas P.,Matthews L.H.,Ashurst J.L.,Burton J.,Gilbert J.G.R.,Jones M.,Stavrides G.,Almeida J.P.,Babbage A.K.,Bagguley C.L.,Bailey J.,Barlow K.F.,Bates K.N.,Beard L.M.,Beare D.M.,Beasley O.P.,Bird C.P.,Blakey S.E.,Bridgeman A.M.,Brown A.J.,Buck D.,Burrill W.D.,Butler A.P.,Carder C.,Carter N.P.,Chapman J.C.,Clamp M.,Clark G.,Clark L.N.,Clark S.Y.,Clee C.M.,Clegg S.,Cobley V.E.,Collier R.E.,Connor R.E.,Corby N.R.,Coulson A.,Coville G.J.,Deadman R.,Dhami P.D.,Dunn M.,Ellington A.G.,Frankland J.A.,Fraser A.,French L.,Garner P.,Grafham D.V.,Griffiths C.,Griffiths M.N.D.,Gwilliam R.,Hall R.E.,Hammond S.,Harley J.L.,Heath P.D.,Ho S.,Holden J.L.,Howden P.J.,Huckle E.,Hunt A.R.,Hunt S.E.,Jekosch K.,Johnson C.M.,Johnson D.,Kay M.P.,Kimberley A.M.,King A.,Knights A.,Laird G.K.,Lawlor S.,Lehvaeslaiho M.H.,Leversha M.A.,Lloyd C.,Lloyd D.M.,Lovell J.D.,Marsh V.L.,Martin S.L.,McConnachie L.J.,McLay K.,McMurray A.A.,Milne S.A.,Mistry D.,Moore M.J.F.,Mullikin J.C.,Nickerson T.,Oliver K.,Parker A.,Patel R.,Pearce T.A.V.,Peck A.I.,Phillimore B.J.C.T.,Prathalingam S.R.,Plumb R.W.,Ramsay H.,Rice C.M.,Ross M.T.,Scott C.E.,Sehra H.K.,Shownkeen R.,Sims S.,Skuce C.D.,Smith M.L.,Soderlund C.,Steward C.A.,Sulston J.E.,Swann R.M.,Sycamore N.,Taylor R.,Tee L.,Thomas D.W.,Thorpe A.,Tracey A.,Tromans A.C.,Vaudin M.,Wall M.,Wallis J.M.,Whitehead S.L.,Whittaker P.,Willey D.L.,Williams L.,Williams S.A.,Wilming L.,Wray P.W.,Hubbard T.,Durbin R.M.,Bentley D.R.,Beck S.,Rogers J.
The DNA sequence and comparative analysis of human chromosome 20.
Nature
414
865-871
2001
1252516
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
1252518
Olsen J.V.,Blagoev B.,Gnad F.,Macek B.,Kumar C.,Mortensen P.,Mann M.
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
Cell
127
635-648
2006
1252519
Daub H.,Olsen J.V.,Bairlein M.,Gnad F.,Oppermann F.S.,Korner R.,Greff Z.,Keri G.,Stemmann O.,Mann M.
Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
Mol. Cell
31
438-448
2008
1252520
Dephoure N.,Zhou C.,Villen J.,Beausoleil S.A.,Bakalarski C.E.,Elledge S.J.,Gygi S.P.
A quantitative atlas of mitotic phosphorylation.
Proc. Natl. Acad. Sci. U.S.A.
105
10762-10767
2008
1252521
Liao W.,Bao Z.,Cheng C.,Mok Y.-K.,Wong W.S.
Dendritic cell-derived interferon-gamma-induced protein mediates tumor necrosis factor-alpha stimulation of human lung fibroblasts.
Proteomics
8
2640-2650
2008
1252522
Gauci S.,Helbig A.O.,Slijper M.,Krijgsveld J.,Heck A.J.,Mohammed S.
Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Anal. Chem.
81
4493-4501
2009
1252523
Oppermann F.S.,Gnad F.,Olsen J.V.,Hornberger R.,Greff Z.,Keri G.,Mann M.,Daub H.
Large-scale proteomics analysis of the human kinome.
Mol. Cell. Proteomics
8
1751-1764
2009
1252524
Thiele H.,du Moulin M.,Barczyk K.,George C.,Schwindt W.,Nurnberg G.,Frosch M.,Kurlemann G.,Roth J.,Nurnberg P.,Rutsch F.
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.
Hum. Mutat.
31
0-0
2010
1252525
Olsen J.V.,Vermeulen M.,Santamaria A.,Kumar C.,Miller M.L.,Jensen L.J.,Gnad F.,Cox J.,Jensen T.S.,Nigg E.A.,Brunak S.,Mann M.
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Sci. Signal.
3
0-0
2010
1252526
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
1252527
Laguette N.,Sobhian B.,Casartelli N.,Ringeard M.,Chable-Bessia C.,Segeral E.,Yatim A.,Emiliani S.,Schwartz O.,Benkirane M.
SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.
Nature
474
654-657
2011
1252528
Hrecka K.,Hao C.,Gierszewska M.,Swanson S.K.,Kesik-Brodacka M.,Srivastava S.,Florens L.,Washburn M.P.,Skowronski J.
Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein.
Nature
474
658-661
2011
1252529
Welbourn S.,Miyagi E.,White T.E.,Diaz-Griffero F.,Strebel K.
Identification and characterization of naturally occurring splice variants of SAMHD1.
Retrovirology
9
86-86
2012
1252530
Cribier A.,Descours B.,Valadao A.L.,Laguette N.,Benkirane M.
Phosphorylation of SAMHD1 by cyclin A2/CDK1 regulates its restriction activity toward HIV-1.
Cell Rep.
3
1036-1043
2013
1252531
Zhao K.,Du J.,Han X.,Goodier J.L.,Li P.,Zhou X.,Wei W.,Evans S.L.,Li L.,Zhang W.,Cheung L.E.,Wang G.,Kazazian H.H. Jr.,Yu X.F.
Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutieres syndrome-related SAMHD1.
Cell Rep.
4
1108-1115
2013
1252532
White T.E.,Brandariz-Nunez A.,Valle-Casuso J.C.,Amie S.,Nguyen L.A.,Kim B.,Tuzova M.,Diaz-Griffero F.
The retroviral restriction ability of SAMHD1, but not its deoxynucleotide triphosphohydrolase activity, is regulated by phosphorylation.
Cell Host Microbe
13
441-451
2013
1252533
Beloglazova N.,Flick R.,Tchigvintsev A.,Brown G.,Popovic A.,Nocek B.,Yakunin A.F.
Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.
J. Biol. Chem.
288
8101-8110
2013
1252534
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
1252535
Franzolin E.,Pontarin G.,Rampazzo C.,Miazzi C.,Ferraro P.,Palumbo E.,Reichard P.,Bianchi V.
The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells.
Proc. Natl. Acad. Sci. U.S.A.
110
14272-14277
2013
1252536
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
1252537
Ryoo J.,Choi J.,Oh C.,Kim S.,Seo M.,Kim S.Y.,Seo D.,Kim J.,White T.E.,Brandariz-Nunez A.,Diaz-Griffero F.,Yun C.H.,Hollenbaugh J.A.,Kim B.,Baek D.,Ahn K.
The ribonuclease activity of SAMHD1 is required for HIV-1 restriction.
Nat. Med.
20
936-941
2014
1252538
Seamon K.J.,Sun Z.,Shlyakhtenko L.S.,Lyubchenko Y.L.,Stivers J.T.
SAMHD1 is a single-stranded nucleic acid binding protein with no active site-associated nuclease activity.
Nucleic Acids Res.
43
6486-6499
2015
1252539
Maelfait J.,Bridgeman A.,Benlahrech A.,Cursi C.,Rehwinkel J.
Restriction by SAMHD1 limits cGAS/STING-dependent innate and adaptive immune responses to HIV-1.
Cell Rep.
16
1492-1501
2016
1252540
Daddacha W.,Koyen A.E.,Bastien A.J.,Head P.E.,Dhere V.R.,Nabeta G.N.,Connolly E.C.,Werner E.,Madden M.Z.,Daly M.B.,Minten E.V.,Whelan D.R.,Schlafstein A.J.,Zhang H.,Anand R.,Doronio C.,Withers A.E.,Shepard C.,Sundaram R.K.,Deng X.,Dynan W.S.,Wang Y.,Bindra R.S.,Cejka P.,Rothenberg E.,Doetsch P.W.,Kim B.,Yu D.S.
SAMHD1 promotes DNA end resection to facilitate DNA repair by homologous recombination.
Cell Rep.
20
1921-1935
2017
1252541
White T.E.,Brandariz-Nunez A.,Martinez-Lopez A.,Knowlton C.,Lenzi G.,Kim B.,Ivanov D.,Diaz-Griffero F.
A SAMHD1 mutation associated with Aicardi-Goutieres Syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.
Hum. Mutat.
38
658-668
2017
1252542
Rocha-Perugini V.,Suarez H.,Alvarez S.,Lopez-Martin S.,Lenzi G.M.,Vences-Catalan F.,Levy S.,Kim B.,Munoz-Fernandez M.A.,Sanchez-Madrid F.,Yanez-Mo M.
CD81 association with SAMHD1 enhances HIV-1 reverse transcription by increasing dNTP levels.
Nat. Microbiol.
2
1513-1522
2017
1252543
Hendriks I.A.,Lyon D.,Young C.,Jensen L.J.,Vertegaal A.C.,Nielsen M.L.
Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.
Nat. Struct. Mol. Biol.
24
325-336
2017
1252544
Herrmann A.,Wittmann S.,Thomas D.,Shepard C.N.,Kim B.,Ferreiros N.,Gramberg T.
The SAMHD1-mediated block of LINE-1 retroelements is regulated by phosphorylation.
Mob. DNA
9
11-11
2018
1252545
Coquel F.,Silva M.J.,Techer H.,Zadorozhny K.,Sharma S.,Nieminuszczy J.,Mettling C.,Dardillac E.,Barthe A.,Schmitz A.L.,Promonet A.,Cribier A.,Sarrazin A.,Niedzwiedz W.,Lopez B.,Costanzo V.,Krejci L.,Chabes A.,Benkirane M.,Lin Y.L.,Pasero P.
SAMHD1 acts at stalled replication forks to prevent interferon induction.
Nature
557
57-61
2018
1252546
Buzovetsky O.,Tang C.,Knecht K.M.,Antonucci J.M.,Wu L.,Ji X.,Xiong Y.
The SAM domain of mouse SAMHD1 is critical for its activation and regulation.
Nat. Commun.
9
411-411
2018
1252547
Zhang K.,Lv D.W.,Li R.
Conserved Herpesvirus Protein Kinases Target SAMHD1 to Facilitate Virus Replication.
Cell Rep.
28
449-459
2019
1252548
Businger R.,Deutschmann J.,Gruska I.,Milbradt J.,Wiebusch L.,Gramberg T.,Schindler M.
Human cytomegalovirus overcomes SAMHD1 restriction in macrophages via pUL97.
Nat. Microbiol.
4
2260-2272
2019
1252550
Goldstone D.C.,Ennis-Adeniran V.,Hedden J.J.,Groom H.C.,Rice G.I.,Christodoulou E.,Walker P.A.,Kelly G.,Haire L.F.,Yap M.W.,de Carvalho L.P.,Stoye J.P.,Crow Y.J.,Taylor I.A.,Webb M.
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
Nature
480
379-382
2011
1252551
Zhu C.,Gao W.,Zhao K.,Qin X.,Zhang Y.,Peng X.,Zhang L.,Dong Y.,Zhang W.,Li P.,Wei W.,Gong Y.,Yu X.F.
Structural insight into dGTP-dependent activation of tetrameric SAMHD1 deoxynucleoside triphosphate triphosphohydrolase.
Nat. Commun.
4
2722-2722
2013
1252552
Ji X.,Wu Y.,Yan J.,Mehrens J.,Yang H.,DeLucia M.,Hao C.,Gronenborn A.M.,Skowronski J.,Ahn J.,Xiong Y.
Mechanism of allosteric activation of SAMHD1 by dGTP.
Nat. Struct. Mol. Biol.
20
1304-1309
2013
1252553
Koharudin L.M.,Wu Y.,DeLucia M.,Mehrens J.,Gronenborn A.M.,Ahn J.
Structural basis of allosteric activation of sterile alpha motif and histidine-aspartate domain-containing protein 1 (SAMHD1) by nucleoside triphosphates.
J. Biol. Chem.
289
32617-32627
2014
1252554
Schwefel D.,Groom H.C.,Boucherit V.C.,Christodoulou E.,Walker P.A.,Stoye J.P.,Bishop K.N.,Taylor I.A.
Structural basis of lentiviral subversion of a cellular protein degradation pathway.
Nature
505
234-238
2014
1252555
Ji X.,Tang C.,Zhao Q.,Wang W.,Xiong Y.
Structural basis of cellular dNTP regulation by SAMHD1.
Proc. Natl. Acad. Sci. U.S.A.
111
0-0
2014
1252556
Zhu C.F.,Wei W.,Peng X.,Dong Y.H.,Gong Y.,Yu X.F.
The mechanism of substrate-controlled allosteric regulation of SAMHD1 activated by GTP.
Acta Crystallogr. D
71
516-524
2015
1252557
Tang C.,Ji X.,Wu L.,Xiong Y.
Impaired dNTPase activity of SAMHD1 by phosphomimetic mutation of Thr-592.
J. Biol. Chem.
290
26352-26359
2015
1252558
Arnold L.H.,Groom H.C.,Kunzelmann S.,Schwefel D.,Caswell S.J.,Ordonez P.,Mann M.C.,Rueschenbaum S.,Goldstone D.C.,Pennell S.,Howell S.A.,Stoye J.P.,Webb M.,Taylor I.A.,Bishop K.N.
Phospho-dependent Regulation of SAMHD1 Oligomerisation Couples Catalysis and Restriction.
PLoS Pathog.
11
0-0
2015
1252559
Rice G.I.,Bond J.,Asipu A.,Brunette R.L.,Manfield I.W.,Carr I.M.,Fuller J.C.,Jackson R.M.,Lamb T.,Briggs T.A.,Ali M.,Gornall H.,Couthard L.R.,Aeby A.,Attard-Montalto S.P.,Bertini E.,Bodemer C.,Brockmann K.,Brueton L.A.,Corry P.C.,Desguerre I.,Fazzi E.,Cazorla A.G.,Gener B.,Hamel B.C.J.,Heiberg A.,Hunter M.,van der Knaap M.S.,Kumar R.,Lagae L.,Landrieu P.G.,Lourenco C.M.,Marom D.,McDermott M.F.,van der Merwe W.,Orcesi S.,Prendiville J.S.,Rasmussen M.,Shalev S.A.,Soler D.M.,Shinawi M.,Spiegel R.,Tan T.Y.,Vanderver A.,Wakeling E.L.,Wassmer E.,Whittaker E.,Lebon P.,Stetson D.B.,Bonthron D.T.,Crow Y.J.
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response.
Nat. Genet.
41
829-832
2009
1252560
Ramantani G.,Kohlhase J.,Hertzberg C.,Innes A.M.,Engel K.,Hunger S.,Borozdin W.,Mah J.K.,Ungerath K.,Walkenhorst H.,Richardt H.H.,Buckard J.,Bevot A.,Siegel C.,von Stuelpnagel C.,Ikonomidou C.,Thomas K.,Proud V.,Niemann F.,Wieczorek D.,Haeusler M.,Niggemann P.,Baltaci V.,Conrad K.,Lebon P.,Lee-Kirsch M.A.
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome.
Arthritis Rheum.
62
1469-1477
2010
1252561
Ravenscroft J.C.,Suri M.,Rice G.I.,Szynkiewicz M.,Crow Y.J.
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
Am. J. Med. Genet. A
155
235-237
2011
1252562
Rice G.I.,Forte G.M.,Szynkiewicz M.,Chase D.S.,Aeby A.,Abdel-Hamid M.S.,Ackroyd S.,Allcock R.,Bailey K.M.,Balottin U.,Barnerias C.,Bernard G.,Bodemer C.,Botella M.P.,Cereda C.,Chandler K.E.,Dabydeen L.,Dale R.C.,De Laet C.,De Goede C.G.,Del Toro M.,Effat L.,Enamorado N.N.,Fazzi E.,Gener B.,Haldre M.,Lin J.P.,Livingston J.H.,Lourenco C.M.,Marques W. Jr.,Oades P.,Peterson P.,Rasmussen M.,Roubertie A.,Schmidt J.L.,Shalev S.A.,Simon R.,Spiegel R.,Swoboda K.J.,Temtamy S.A.,Vassallo G.,Vilain C.N.,Vogt J.,Wermenbol V.,Whitehouse W.P.,Soler D.,Olivieri I.,Orcesi S.,Aglan M.S.,Zaki M.S.,Abdel-Salam G.M.,Vanderver A.,Kisand K.,Rozenberg F.,Lebon P.,Crow Y.J.
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Lancet Neurol.
12
1159-1169
2013