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Items: 1 to 50 of 69

1.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
2.

Structural Basis of Cross-Reactivity of Anti-Citrullinated Protein Antibodies.

Ge C, Xu B, Liang B, Lönnblom E, Lundström SL, Zubarev RA, Ayoglu B, Nilsson P, Skogh T, Kastbom A, Malmström V, Klareskog L, Toes REM, Rispens T, Dobritzsch D, Holmdahl R.

Arthritis Rheumatol. 2019 Feb;71(2):210-221. doi: 10.1002/art.40698. Epub 2019 Jan 4.

PMID:
30152126
3.

Structural and Mutagenesis Studies of the Thiamine-Dependent, Ketone-Accepting YerE from Pseudomonas protegens.

Hampel S, Steitz JP, Baierl A, Lehwald P, Wiesli L, Richter M, Fries A, Pohl M, Schneider G, Dobritzsch D, Müller M.

Chembiochem. 2018 Nov 2;19(21):2283-2292. doi: 10.1002/cbic.201800325. Epub 2018 Oct 11.

PMID:
30101542
4.

Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism.

Maurer D, Lohkamp B, Krumpel M, Widersten M, Dobritzsch D.

Biochem J. 2018 Jul 31;475(14):2395-2416. doi: 10.1042/BCJ20180222.

PMID:
29976570
5.

Epoxide hydrolysis as a model system for understanding flux through a branched reaction scheme.

Janfalk Carlsson Å, Bauer P, Dobritzsch D, Kamerlin SCL, Widersten M.

IUCrJ. 2018 Mar 22;5(Pt 3):269-282. doi: 10.1107/S2052252518003573. eCollection 2018 May 1. Review.

6.

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM.

Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10.

PMID:
29691939
7.

Directed Evolution of Alcohol Dehydrogenase for Improved Stereoselective Redox Transformations of 1-Phenylethane-1,2-diol and Its Corresponding Acyloin.

Hamnevik E, Maurer D, Enugala TR, Chu T, Löfgren R, Dobritzsch D, Widersten M.

Biochemistry. 2018 Feb 20;57(7):1059-1062. doi: 10.1021/acs.biochem.8b00055. Epub 2018 Feb 2.

PMID:
29384657
8.

MAPKs Influence Pollen Tube Growth by Controlling the Formation of Phosphatidylinositol 4,5-Bisphosphate in an Apical Plasma Membrane Domain.

Hempel F, Stenzel I, Heilmann M, Krishnamoorthy P, Menzel W, Golbik R, Helm S, Dobritzsch D, Baginsky S, Lee J, Hoehenwarter W, Heilmann I.

Plant Cell. 2017 Dec;29(12):3030-3050. doi: 10.1105/tpc.17.00543. Epub 2017 Nov 22.

9.

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Zhang C, Wang X, Watanabe Y, Tashiro K, Meinsma R, Roelofsen J, Zoetekouw L, van Kuilenburg ABP.

Mol Genet Metab. 2017 Dec;122(4):216-222. doi: 10.1016/j.ymgme.2017.10.003. Epub 2017 Oct 12.

PMID:
29054612
10.

Relaxation of nonproductive binding and increased rate of coenzyme release in an alcohol dehydrogenase increases turnover with a nonpreferred alcohol enantiomer.

Hamnevik E, Enugala TR, Maurer D, Ntuku S, Oliveira A, Dobritzsch D, Widersten M.

FEBS J. 2017 Nov;284(22):3895-3914. doi: 10.1111/febs.14279. Epub 2017 Oct 20.

11.

Synergistic Toxicity of Copper and Gold Compounds in Cupriavidus metallidurans.

Wiesemann N, Bütof L, Herzberg M, Hause G, Berthold L, Etschmann B, Brugger J, Martinez-Criado G, Dobritzsch D, Baginsky S, Reith F, Nies DH.

Appl Environ Microbiol. 2017 Nov 16;83(23). pii: e01679-17. doi: 10.1128/AEM.01679-17. Print 2017 Dec 1.

12.

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A.

Am J Med Genet A. 2017 Oct;173(10):2736-2742. doi: 10.1002/ajmg.a.38359. Epub 2017 Jul 25.

PMID:
28742244
13.

Anti-citrullinated protein antibodies cause arthritis by cross-reactivity to joint cartilage.

Ge C, Tong D, Liang B, Lönnblom E, Schneider N, Hagert C, Viljanen J, Ayoglu B, Stawikowska R, Nilsson P, Fields GB, Skogh T, Kastbom A, Kihlberg J, Burkhardt H, Dobritzsch D, Holmdahl R.

JCI Insight. 2017 Jul 6;2(13). pii: 93688. doi: 10.1172/jci.insight.93688. eCollection 2017 Jul 6.

14.

Pools of cadmium in Chlamydomonas reinhardtii revealed by chemical imaging and XAS spectroscopy.

Penen F, Isaure MP, Dobritzsch D, Bertalan I, Castillo-Michel H, Proux O, Gontier E, Le Coustumer P, Schaumlöffel D.

Metallomics. 2017 Jul 19;9(7):910-923. doi: 10.1039/c7mt00029d.

PMID:
28598481
15.

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

van Kuilenburg AB, Meijer J, Maurer D, Dobritzsch D, Meinsma R, Los M, Knegt LC, Zoetekouw L, Jansen RL, Dezentjé V, van Huis-Tanja LH, van Kampen RJ, Hertz JM, Hennekam RC.

Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):721-730. doi: 10.1016/j.bbadis.2016.12.010. Epub 2016 Dec 24.

16.

Laboratory-Evolved Enzymes Provide Snapshots of the Development of Enantioconvergence in Enzyme-Catalyzed Epoxide Hydrolysis.

Janfalk Carlsson Å, Bauer P, Dobritzsch D, Nilsson M, Kamerlin SC, Widersten M.

Chembiochem. 2016 Sep 15;17(18):1693-7. doi: 10.1002/cbic.201600330. Epub 2016 Aug 2.

17.

A New Radio Frequency Plasma Oxygen Primary Ion Source on Nano Secondary Ion Mass Spectrometry for Improved Lateral Resolution and Detection of Electropositive Elements at Single Cell Level.

Malherbe J, Penen F, Isaure MP, Frank J, Hause G, Dobritzsch D, Gontier E, Horréard F, Hillion F, Schaumlöffel D.

Anal Chem. 2016 Jul 19;88(14):7130-6. doi: 10.1021/acs.analchem.6b01153. Epub 2016 Jun 27.

PMID:
27291826
18.

Chemical bioimaging for the subcellular localization of trace elements by high contrast TEM, TEM/X-EDS, and NanoSIMS.

Penen F, Malherbe J, Isaure MP, Dobritzsch D, Bertalan I, Gontier E, Le Coustumer P, Schaumlöffel D.

J Trace Elem Med Biol. 2016 Sep;37:62-68. doi: 10.1016/j.jtemb.2016.04.014. Epub 2016 May 7.

PMID:
27288221
19.

Conformational diversity and enantioconvergence in potato epoxide hydrolase 1.

Bauer P, Carlsson ÅJ, Amrein BA, Dobritzsch D, Widersten M, Kamerlin SC.

Org Biomol Chem. 2016 Jun 28;14(24):5639-51. doi: 10.1039/c6ob00060f. Epub 2016 Apr 6.

20.

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Kuilenburg ABPV, Meijer J, Tanck MWT, Dobritzsch D, Zoetekouw L, Dekkers LL, Roelofsen J, Meinsma R, Wymenga M, Kulik W, Büchel B, Hennekam RCM, Largiadèr CR.

Biochim Biophys Acta. 2016 Apr;1862(4):754-762. doi: 10.1016/j.bbadis.2016.01.009. Epub 2016 Jan 12.

21.

Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.

Nakajima Y, Meijer J, Zhang C, Wang X, Kondo T, Ito T, Dobritzsch D, Van Kuilenburg AB.

Int J Mol Sci. 2016 Jan 12;17(1). pii: E86. doi: 10.3390/ijms17010086.

22.

How Beyond Rule of 5 Drugs and Clinical Candidates Bind to Their Targets.

Doak BC, Zheng J, Dobritzsch D, Kihlberg J.

J Med Chem. 2016 Mar 24;59(6):2312-27. doi: 10.1021/acs.jmedchem.5b01286. Epub 2015 Oct 30. Review.

PMID:
26457449
23.

Identification of protein N-termini in Cyanophora paradoxa cyanelles: transit peptide composition and sequence determinants for precursor maturation.

Köhler D, Dobritzsch D, Hoehenwarter W, Helm S, Steiner JM, Baginsky S.

Front Plant Sci. 2015 Jul 22;6:559. doi: 10.3389/fpls.2015.00559. eCollection 2015.

24.

Cadmium-induced formation of sulphide and cadmium sulphide particles in the aquatic hyphomycete Heliscus lugdunensis.

Dobritzsch D, Ganz P, Rother M, Ehrman J, Baumbach R, Miersch J.

J Trace Elem Med Biol. 2015;31:92-7. doi: 10.1016/j.jtemb.2015.03.006. Epub 2015 Apr 4.

PMID:
26004898
25.

Hydroxyethylene isosteres introduced in type II collagen fragments substantially alter the structure and dynamics of class II MHC A(q)/glycopeptide complexes.

Lindgren C, Andersson IE, Berg L, Dobritzsch D, Ge C, Haag S, Uciechowska U, Holmdahl R, Kihlberg J, Linusson A.

Org Biomol Chem. 2015 Jun 14;13(22):6203-16. doi: 10.1039/c5ob00395d.

PMID:
25960177
26.

Positional identification of RT1-B (HLA-DQ) as susceptibility locus for autoimmune arthritis.

Haag S, Tuncel J, Thordardottir S, Mason DE, Yau AC, Dobritzsch D, Bäcklund J, Peters EC, Holmdahl R.

J Immunol. 2015 Mar 15;194(6):2539-50. doi: 10.4049/jimmunol.1402238. Epub 2015 Feb 11.

27.

Fungi from metal-polluted streams may have high ability to cope with the oxidative stress induced by copper oxide nanoparticles.

Pradhan A, Seena S, Schlosser D, Gerth K, Helm S, Dobritzsch M, Krauss GJ, Dobritzsch D, Pascoal C, Cássio F.

Environ Toxicol Chem. 2015 Apr;34(4):923-30. doi: 10.1002/etc.2879. Epub 2015 Mar 9.

PMID:
25565283
28.

The zinc repository of Cupriavidus metallidurans.

Herzberg M, Dobritzsch D, Helm S, Baginsky S, Nies DH.

Metallomics. 2014 Nov;6(11):2157-65. doi: 10.1039/c4mt00171k.

PMID:
25315396
29.

Structural and functional characterization of ochratoxinase, a novel mycotoxin-degrading enzyme.

Dobritzsch D, Wang H, Schneider G, Yu S.

Biochem J. 2014 Sep 15;462(3):441-52. doi: 10.1042/BJ20140382.

PMID:
24947135
30.

Epitope-specific antibody response is controlled by immunoglobulin V(H) polymorphisms.

Raposo B, Dobritzsch D, Ge C, Ekman D, Xu B, Lindh I, Förster M, Uysal H, Nandakumar KS, Schneider G, Holmdahl R.

J Exp Med. 2014 Mar 10;211(3):405-11. doi: 10.1084/jem.20130968. Epub 2014 Feb 17.

31.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB.

J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. Erratum in: J Inherit Metab Dis. 2014 Nov;37(6):1023.

32.

Protein identification and quantification by data-independent acquisition and multi-parallel collision-induced dissociation mass spectrometry (MS(E)) in the chloroplast stroma proteome.

Helm S, Dobritzsch D, Rödiger A, Agne B, Baginsky S.

J Proteomics. 2014 Feb 26;98:79-89. doi: 10.1016/j.jprot.2013.12.007. Epub 2013 Dec 18.

PMID:
24361574
33.

Physiological responses to nanoCuO in fungi from non-polluted and metal-polluted streams.

Pradhan A, Seena S, Dobritzsch D, Helm S, Gerth K, Dobritzsch M, Krauss GJ, Schlosser D, Pascoal C, Cássio F.

Sci Total Environ. 2014 Jan 1;466-467:556-63. doi: 10.1016/j.scitotenv.2013.07.073. Epub 2013 Aug 15.

PMID:
23955249
34.

The major function of a metallothionein from the aquatic fungus Heliscus lugdunensis is cadmium detoxification.

Loebus J, Leitenmaier B, Meissner D, Braha B, Krauss GJ, Dobritzsch D, Freisinger E.

J Inorg Biochem. 2013 Oct;127:253-60. doi: 10.1016/j.jinorgbio.2013.06.001. Epub 2013 Jun 7.

PMID:
23800411
35.

Towards an understanding of the function of the phytochelatin synthase of Schistosoma mansoni.

Rigouin C, Nylin E, Cogswell AA, Schaumlöffel D, Dobritzsch D, Williams DL.

PLoS Negl Trop Dis. 2013;7(1):e2037. doi: 10.1371/journal.pntd.0002037. Epub 2013 Jan 31.

36.

Identification of phytochelatins in the cadmium-stressed conjugating green alga Micrasterias denticulata.

Volland S, Schaumlöffel D, Dobritzsch D, Krauss GJ, Lütz-Meindl U.

Chemosphere. 2013 Apr;91(4):448-54. doi: 10.1016/j.chemosphere.2012.11.064. Epub 2012 Dec 23.

PMID:
23266414
37.

Crystal structure of the glycosyltransferase SnogD from the biosynthetic pathway of nogalamycin in Streptomyces nogalater.

Claesson M, Siitonen V, Dobritzsch D, Metsä-Ketelä M, Schneider G.

FEBS J. 2012 Sep;279(17):3251-63. doi: 10.1111/j.1742-4658.2012.08711.x. Epub 2012 Aug 17.

38.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC.

Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14.

39.

Crystal structure of an arthritogenic anticollagen immune complex.

Dobritzsch D, Lindh I, Uysal H, Nandakumar KS, Burkhardt H, Schneider G, Holmdahl R.

Arthritis Rheum. 2011 Dec;63(12):3740-8. doi: 10.1002/art.30611.

40.

Insights into the mechanism of dihydropyrimidine dehydrogenase from site-directed mutagenesis targeting the active site loop and redox cofactor coordination.

Lohkamp B, Voevodskaya N, Lindqvist Y, Dobritzsch D.

Biochim Biophys Acta. 2010 Dec;1804(12):2198-206. doi: 10.1016/j.bbapap.2010.08.014. Epub 2010 Sep 8.

PMID:
20831907
41.

Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.

van Kuilenburg AB, Meijer J, Mul AN, Meinsma R, Schmid V, Dobritzsch D, Hennekam RC, Mannens MM, Kiechle M, Etienne-Grimaldi MC, Klümpen HJ, Maring JG, Derleyn VA, Maartense E, Milano G, Vijzelaar R, Gross E.

Hum Genet. 2010 Nov;128(5):529-38. doi: 10.1007/s00439-010-0879-3. Epub 2010 Aug 29.

42.

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC.

Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1.

43.

Saccharomyces kluyveri as a model organism to study pyrimidine degradation.

Beck H, Dobritzsch D, Piskur J.

FEMS Yeast Res. 2008 Dec;8(8):1209-13. doi: 10.1111/j.1567-1364.2008.00442.x. Epub 2008 Sep 19. Review.

44.

Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.

van Kuilenburg AB, Meijer J, Dobritzsch D, Lohkamp B, Ruitenbeek W, Roelofsen J, Abeling NG, Duran M, Buzing C.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):809-15. doi: 10.1080/15257770802146247.

PMID:
18600544
45.

Degradation of pyrimidines in Saccharomyces kluyveri: transamination of beta-alanine.

Schnackerz KD, Andersen G, Dobritzsch D, Piskur J.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):794-9. doi: 10.1080/15257770802145983.

PMID:
18600542
46.

A recruited protease is involved in catabolism of pyrimidines.

Andersen B, Lundgren S, Dobritzsch D, Piskur J.

J Mol Biol. 2008 May 30;379(2):243-50. doi: 10.1016/j.jmb.2008.03.073. Epub 2008 Apr 7. Erratum in: J Mol Biol. 2008 Oct 10;382(3):825.

PMID:
18448119
47.

A mixture of fortunes: the curious determination of the structure of Escherichia coli BL21 Gab protein.

Lohkamp B, Dobritzsch D.

Acta Crystallogr D Biol Crystallogr. 2008 Apr;64(Pt 4):407-15. doi: 10.1107/S0907444908001091. Epub 2008 Mar 19.

PMID:
18391407
48.

The crystal structure of beta-alanine synthase from Drosophila melanogaster reveals a homooctameric helical turn-like assembly.

Lundgren S, Lohkamp B, Andersen B, Piskur J, Dobritzsch D.

J Mol Biol. 2008 Apr 11;377(5):1544-59. doi: 10.1016/j.jmb.2008.02.011. Epub 2008 Feb 13.

PMID:
18336837
49.

Amidohydrolases of the reductive pyrimidine catabolic pathway purification, characterization, structure, reaction mechanisms and enzyme deficiency.

Schnackerz KD, Dobritzsch D.

Biochim Biophys Acta. 2008 Mar;1784(3):431-44. doi: 10.1016/j.bbapap.2008.01.005. Epub 2008 Jan 18. Review.

PMID:
18261476
50.

Crystal structures of yeast beta-alanine synthase complexes reveal the mode of substrate binding and large scale domain closure movements.

Lundgren S, Andersen B, Piskur J, Dobritzsch D.

J Biol Chem. 2007 Dec 7;282(49):36037-47. Epub 2007 Oct 4.

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