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Ausgewählte Publikationen

Bienias M, König N, Wolf C, Kretschmer S, Rösen-Wolff A, Berner R, Tüngler V, Lee-Kirsch MA. Genetic methods for analysis of autoinflammatory diseases. Z Rheumatol. 2017 Apr 4. doi: 10.1007/s00393-017-0300-x. [Epub ahead of print]

 

Lee-Kirsch MA. The Type I Interferonopathies. Annu Rev Med. 2017 Jan 14;68:297-315.

 

Tüngler V, König N, Günther C, Engel K, Fiehn C, Smitka M, von der Hagen M, Berner R, Lee-Kirsch MA. Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al. Ann Rheum Dis. 2016 Dec;75(12):e76.


Lee-Kirsch MA, Günther C, Roers A. Nucleic acid-mediated autoinflammation and autoimmunity-type I interferonopathies. J Mol Med (Berl). 2016 Oct;94(10):1081-1084.

 

König N, Fiehn C, Wolf C, Schuster M, Cura Costa E, Tüngler V, Alvarez HA, Chara O, Engel K, Goldbach-Mansky R, Günther C, Lee-Kirsch MA. Familial chilblain lupus due to a gain-of-function mutation in STING. Ann Rheum Dis. 2017 Feb;76(2):468-472.


Wolf C, Rapp A, Berndt N, Staroske W, Schuster M, Dobrick-Mattheuer M, Kretschmer S, König N, Kurth T, Wieczorek D, Kast K, Cardoso MC, Günther C, Lee-Kirsch MA. RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA. Nat Commun. 2016 May 27;7:11752.


Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain Dev. 2016 Sep;38(8):777-80.

 

Günther C, Schmidt F, König N, Lee-Kirsch MA. Type I interferonopathies. Systemic inflammatory diseases triggered by type I interferons. Z Rheumatol. 2016 Mar;75(2):134-40.

 

Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA. Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene. Pediatr Rheumatol Online J. 2015 Sep 7;13(1):37.

 

Lee-Kirsch MA, Wolf C, Kretschmer S, Roers A. Type I interferonopathies-an expanding disease spectrum of immunodysregulation. Semin Immunopathol. 2015 Jul;37(4):349-57.

 

Günther C, Kind B, Reijns MAM, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee YA, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell KR, Ramantani G, Bauerfeind A, Morris DL, Cunninghame Graham DS, Bubeck D, Leitch A, Ralston SH, Blackburn EH, Gahr M, Witte T, Vyse TJ, Melchers I, Mangold E, Nöthen MM, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs JD, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme ME, Jackson AP, Lee-Kirsch MA. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest. 2015 Jan;125(1):413-24.

 

Schuh E, Ertl-Wagner B, Lohse P, Wolf W, Mann JF, Lee-Kirsch M, Hohlfeld R, Kümpfel T. Multiple sclerosis like lesions and type I interferon signature in a patient with RVCL. Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e55.

 

Günther C, Berndt N, Wolf C, Lee-Kirsch M. Familial chilblain lupus due to a novel mutation in the exonuclease 3 domain of three prime repair exonuclease 1 (TREX1). JAMA Dermatol. 2015 Apr;151(4):426-31.

 

Kind B, Muster B, Staroske W, Herce HD, Sachse R, Rapp A, Schmidt F, Koss S, Cardoso MC, Lee-Kirsch MA. Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome. Hum Mol Genet. 2014;23(22):5950-60.

 

Lee-Kirsch MA, Wolf C, Günther C. Aicardi-Goutières syndrome: a model disease for systemic autoimmunity. Clin Exp Immunol. 2014 Jan;175(1):17-24.

 

Tüngler V, S chmidt F, Hieronimus S, Reyes-Velasco C, Lee-Kirsch MA. Phenotypic Variability in a Family with Aicardi-Goutières Syndrome Due to the Common A177T RNASEH2B Mutation. Case Reports Clin Med. 2014;10.4236/crcm.2014.33037

 

Kretschmer S, Wolf C, König N, Staroske W, Guck J, Häusler M, Luksch H, Nguyen LA, Kim B, Alexopoulou D, Dahl A, Rapp A, Cardoso MC, Shevchenko A, Lee-Kirsch MA. SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis. 2015 Mar;74(3):e17.

 

Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA. Epilepsy in Aicardi-Goutières syndrome. Eur J Paediatr Neurol. 2014 Jan;18(1):30-7.

 

Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JI, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA. A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis. J Allergy Clin Immunol. 2013 Aug;132(2):371-7.

 

Peschke K, Friebe F, Zimmermann N, Wahlicht T, Schumann T, Achleitner M, Berndt N, Luksch H, Behrendt R, Lee-Kirsch MA, Roers A, Günther C. Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus. J Invest Dermatol. 2014 May;134(5):1456-9.

 

Günther C, Hillebrand M, Brunk M, Lee-Kirsch MA. Systemic involvement in TREX1-associated familial chilblain lupus. J Am Acad Dermatol 2013 Oct;69(4):e179-81.

 

Tüngler V, Staroske W, Kind B, Dobrick M, Kretschmer S, Schmidt F, Krug C, Lorenz M, Chara O, Schwille P, Lee-Kirsch MA. Single-stranded nucleic acids promote SAMHD1 complex formation. J Mol Med (Berl.) 2013 Jun;91(6):759-70.

 

Hasan M, Koch J, Rakheja D, Pattnaik AK, Brugarolas J, Dozmorov I, Levine B, Wakeland EK, Lee-Kirsch MA, Yan N. Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes. Nat Immunol 2013;14(1),61-71.

 

Luksch H, Romanowski MJ, Chara O, Tüngler V, Caffarena ER, Heymann M, Lohse P, Aksentijevich I, Remmers EF, Flecks S, Quoos N, Gramatté J, Petzold C, Hofmann SR, Winkler S, Pessler F, Kallinich T, Ganser G, Nimtz-Talaska A, Baumann U, Runde V, Grimbacher B, Birmelin J, Gahr M, Roesler J, Rösen-Wolff A. Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1b (IL-1b). Hum Mut 2013;34:122-131.

 

Aringer M, Günther C, Lee-Kirsch MA. Innate immune processes in lupus erythematosus. Clin Immunol. 2013 Jun;147(3):216-22.

 

Tüngler V, Silver RM, Walkenhorst H, Günther C, Lee-Kirsch MA. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome. Br J Dermatol 2012;167(1):212-4.

 

Ramantani G, Häusler M, Niggemann P, Wessling B, Guttmann H, Mull M, Tenbrock K, Lee-Kirsch MA. Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations. J Child Neurol 2011;26(11):1425-8.

 

Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T, Burger W, Schober E, Huebner A, Lee-Kirsch MA; Wolfram Syndrome Diabetes Writing Group. Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care 2011;34(7):1503-10.

 

Marenholz I, Rivera VA, Esparza-Gordillo J, Bauerfeind A, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA. Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema. J Invest Dermatol 2011;131(8):1644-9.

 

Lohse J, Schweigel J, Naeke A, Lee-Kirsch MA, Siegert G, Bergmann S, Kuhlisch E, Suttorp M, Knöfler R. Platelet function in obese children and adolescents. Hamostaseologie 2010; 30 Suppl 1:S126-32.

 

Hauck F, Lee-Kirsch MA, Aust D, Roesler J, Pessler F. Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab. Arthritis Care Res (Hoboken) 2011;63(3):454-9.

 

Kumagai A, Shevchenko A, Shevchenko A, Dunphy WG. Direct regulation of Treslin by cyclin-dependent kinase is essential for the onset of DNA replication. J Cell Biol 2011;193(6):995-1007.

 

Yan N, Regalado-Magdos AD, Stiggelbout B, Lee-Kirsch MA, Lieberman J. The cytosolic exonuclease TREX1 inhibits the innate immune response to HIV-1. Nat Immunol 2010;11(11):1005-13.

 

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat 2010;31(8):E1587-93.

 

Ramantani G, Niggemann P, Bast T, Lee-Kirsch MA. Reconciling neuroimaging and clinical findings in Aicardi-Goutières syndrome: an autoimmune-mediated encephalopathy. AJNR Am J Neuroradiol 2010;31(7):E62-3; author reply E64.

 

Lee-Kirsch MA. Nucleic acid metabolism and systemic autoimmunity revisited. Arthritis Rheum 2010;62(5):1208-12.

 

Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK,  Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheumat 2010;62:1469-77.

 

Günther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch MA. Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. Dermatology 2009;219(2):162-6.

 

Shevchenko A, Roguev A, Schaft D, Buchanan L, Habermann B, Sakalar C, Thomas H, Krogan NJ, Shevchenko A, Stewart AF. Chromatin Central: towards the comparative proteome by accurate mapping of the yeast proteomic environment. Genome Biol 2008;9(11):R167.

 

Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee Y, De Silva U, Bailey S, Witte T, Vyse TJ, Kere J, Pfeiffer S, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007;39(9):1065-1067.

 

Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med 2007;85(5):531-537.

 

Lee-Kirsch MA, Gong M, Schulz H, Ruschendorf F, Stein A, Pfeiffer C,  Ballarini A, Gahr M, Hubner N, Linne M. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet 2006;79(4):731-737.

 

Shevchenko A, Chernushevic I, Shevchenko A, Wilm M, Mann M. "De novo" sequencing of peptides recovered from in-gel digested proteins by nanoelectrospray tandem mass spectrometry. Mol Biotechnol 2002;20(1):107-118.

 

Shevchenko A, Schaft D, Roguev A, Pijnappel WW, Stewart AF, Shevchenko A. Deciphering protein complexes and protein interaction networks by tandem affinity purification and mass spectrometry: analytical perspective. Mol Cell Proteomics 2002;1(3):204-212.

 

Bouveret E, Rigaut G, Shevchenko A, Wilm M, Seraphin B. A Sm-like protein complex that participates in mRNA degradation. EMBO J 2000;19(7):1661-1671.

 

Shevchenko A, Rutz B, Wilm M, Mann M, Seraphin B. A generic protein purification method for protein complex characterization and proteome exploration. Nat Biotechnol 1999;17(10):1030-1032.

 

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Kontakt

Teilprojektleiterinnen:

Prof. Dr. med.
Min Ae Lee-Kirsch

Klinik und Poliklinik für
Kinder- und Jugendmedizin
Tel.: 0351-458 6887
Email: minae.lee-kirsch@
uniklinikum-dresden.de

 

Anna Shevchenko

Dr. rer. nat.
Anna Shevchenko
(1. Förderphase)

Max-Planck-Institut für
Molekulare Zellbiologie
und Genetik
Tel.: 0351-210 2616
Email: ashevche@mpi-cbg.de

 

Victoria Tüngler

Dr. med.
Victoria Tüngler
(2. Förderphase)

Klinik und Poliklinik für
Kinder- und Jugendmedizin
Tel.: 0351-458 18781
Email: victoria.tuengler@
uniklinikum-dresden.de