Doreen Dobritzsch

Doreen Dobritzsch

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Doreen Dobritzsch

Publications by authors named "Doreen Dobritzsch"

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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

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

Arthritis Rheumatol 2019 Feb 4;71(2):210-221. Epub 2019 Jan 4.

Karolinska Institutet, Stockholm, Sweden, and Southern Medical University, Guangzhou, China.

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http://dx.doi.org/10.1002/art.40698DOI Listing
February 2019

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

Chembiochem 2018 Nov 11;19(21):2283-2292. Epub 2018 Oct 11.

Institut für Pharmazeutische Wissenschaften, Albert-Ludwigs-Universität Freiburg, Albertstrasse 25, 79104, Freiburg, Germany.

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http://doi.wiley.com/10.1002/cbic.201800325
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http://dx.doi.org/10.1002/cbic.201800325DOI Listing
November 2018

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.

Hum Mutat 2018 07 10;39(7):947-953. Epub 2018 May 10.

Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/humu.23538DOI Listing
July 2018

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

Biochem J 2018 07 31;475(14):2395-2416. Epub 2018 Jul 31.

Department of Chemistry - BMC, Uppsala University, Box 576, SE-75123 Uppsala, Sweden

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http://dx.doi.org/10.1042/BCJ20180222DOI Listing
July 2018

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

IUCrJ 2018 May 22;5(Pt 3):269-282. Epub 2018 Mar 22.

Department of Chemistry, BMC, Uppsala University, Box 576, 751 23 Uppsala, Sweden.

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http://dx.doi.org/10.1107/S2052252518003573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5929373PMC
May 2018

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

Biochemistry 2018 02 2;57(7):1059-1062. Epub 2018 Feb 2.

Department of Chemistry-BMC, Uppsala University , Box 576, SE-751 23 Uppsala, Sweden.

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http://dx.doi.org/10.1021/acs.biochem.8b00055DOI Listing
February 2018

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

Mol Genet Metab 2017 12 12;122(4):216-222. Epub 2017 Oct 12.

Academic Medical Center, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105, AZ, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.003DOI Listing
December 2017

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

Biochim Biophys Acta Mol Basis Dis 2017 03 24;1863(3):721-730. Epub 2016 Dec 24.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2016.12.010DOI Listing
March 2017

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

Biochim Biophys Acta 2016 04 12;1862(4):754-762. Epub 2016 Jan 12.

Department of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1016/j.bbadis.2016.01.009DOI Listing
April 2016

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

J Med Chem 2016 Mar 30;59(6):2312-27. Epub 2015 Oct 30.

Department of Chemistry-BMC, Uppsala University , Box 576, SE-751 23 Uppsala, Sweden.

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http://dx.doi.org/10.1021/acs.jmedchem.5b01286DOI Listing
March 2016

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

Int J Mol Sci 2016 Jan 12;17(1). Epub 2016 Jan 12.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.3390/ijms17010086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730329PMC
January 2016

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

J Immunol 2015 Mar 11;194(6):2539-50. Epub 2015 Feb 11.

Division of Medical Inflammation Research, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 77, Stockholm, Sweden;

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http://dx.doi.org/10.4049/jimmunol.1402238DOI Listing
March 2015

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

Biochem J 2014 Sep;462(3):441-52

*Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-17177 Stockholm, Sweden.

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http://www.biochemj.org/content/ppbiochemj/462/3/441.full.pd
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http://biochemj.org/lookup/doi/10.1042/BJ20140382
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http://dx.doi.org/10.1042/BJ20140382DOI Listing
September 2014

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

J Exp Med 2014 Mar 17;211(3):405-11. Epub 2014 Feb 17.

Section for Medical Inflammation Research and 2 Section for Molecular Structural Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden.

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http://jem.rupress.org/content/211/3/405.full.pdf
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http://www.jem.org/lookup/doi/10.1084/jem.20130968
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http://dx.doi.org/10.1084/jem.20130968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949579PMC
March 2014

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

FEBS J 2012 Sep 17;279(17):3251-63. Epub 2012 Aug 17.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/j.1742-4658.2012.08711.xDOI Listing
September 2012

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

Biochim Biophys Acta 2012 Jul 14;1822(7):1096-108. Epub 2012 Apr 14.

Academic Medical Center, Emma Children's Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.04.001DOI Listing
July 2012

Crystal structure of an arthritogenic anticollagen immune complex.

Arthritis Rheum 2011 Dec;63(12):3740-8

Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1002/art.30611DOI Listing
December 2011

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

Biochim Biophys Acta 2010 Dec 8;1804(12):2198-206. Epub 2010 Sep 8.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.bbapap.2010.08.014DOI Listing
December 2010

Saccharomyces kluyveri as a model organism to study pyrimidine degradation.

FEMS Yeast Res 2008 Dec 19;8(8):1209-13. Epub 2008 Sep 19.

Department of Cell and Organism Biology, Lund University, Lund, Sweden.

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http://dx.doi.org/10.1111/j.1567-1364.2008.00442.xDOI Listing
December 2008

A recruited protease is involved in catabolism of pyrimidines.

J Mol Biol 2008 May 7;379(2):243-50. Epub 2008 Apr 7.

Department of Cell and Organism Biology, Lund University, SE-22362 Lund, Sweden.

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http://dx.doi.org/10.1016/j.jmb.2008.03.073DOI Listing
May 2008

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

J Mol Biol 2008 Apr 13;377(5):1544-59. Epub 2008 Feb 13.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-17177 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.jmb.2008.02.011DOI Listing
April 2008

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

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

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden.

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http://dx.doi.org/10.1107/S0907444908001091DOI Listing
April 2008

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

Biochim Biophys Acta 2008 Mar 18;1784(3):431-44. Epub 2008 Jan 18.

Biozentrum, Universität Würzburg, 97074 Würzburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S15709639080001
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http://dx.doi.org/10.1016/j.bbapap.2008.01.005DOI Listing
March 2008

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

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

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-17177 Stockholm, Sweden.

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http://dx.doi.org/10.1074/jbc.M705517200DOI Listing
December 2007

Crystallization and preliminary X-ray data analysis of beta-alanine synthase from Drosophila melanogaster.

Acta Crystallogr Sect F Struct Biol Cryst Commun 2007 Oct 19;63(Pt 10):874-7. Epub 2007 Sep 19.

Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1107/S1744309107042984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2339735PMC
October 2007

Crystal structures of two aromatic hydroxylases involved in the early tailoring steps of angucycline biosynthesis.

J Mol Biol 2007 Sep 10;372(3):633-48. Epub 2007 Jul 10.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.jmb.2007.06.087DOI Listing
September 2007

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

Mol Genet Metab 2007 Jun 26;91(2):157-64. Epub 2007 Mar 26.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.008DOI Listing
June 2007

A gene duplication led to specialized gamma-aminobutyrate and beta-alanine aminotransferase in yeast.

FEBS J 2007 Apr 12;274(7):1804-17. Epub 2007 Mar 12.

BioCentrum-DTU, Technical University of Denmark, Lyngby, Denmark.

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http://dx.doi.org/10.1111/j.1742-4658.2007.05729.xDOI Listing
April 2007

The crystal structures of dihydropyrimidinases reaffirm the close relationship between cyclic amidohydrolases and explain their substrate specificity.

J Biol Chem 2006 May 3;281(19):13762-76. Epub 2006 Mar 3.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-17177 Stockholm.

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http://dx.doi.org/10.1074/jbc.M513266200DOI Listing
May 2006

Purification, crystallization and X-ray diffraction analysis of dihydropyrimidinase from Dictyostelium discoideum.

Acta Crystallogr Sect F Struct Biol Cryst Commun 2006 Jan 16;62(Pt 1):36-8. Epub 2005 Dec 16.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1107/S174430910503976XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2150923PMC
January 2006

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.

Biol Chem 2005 Apr;386(4):319-24

Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, P.O. Box 22700, NL-1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1515/BC.2005.038DOI Listing
April 2005

Crystallization and X-ray diffraction analysis of dihydropyrimidinase from Saccharomyces kluyveri.

Acta Crystallogr Sect F Struct Biol Cryst Commun 2005 Apr 12;61(Pt 4):359-62. Epub 2005 Mar 12.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1107/S174430910500610XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1952421PMC
April 2005

Dihydropyrimidine dehydrogenase: a flavoprotein with four iron-sulfur clusters.

Biochim Biophys Acta 2004 Sep;1701(1-2):61-74

Biozentrum der Universität Würzburg, D-97074 Würzburg, Germany.

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http://dx.doi.org/10.1016/j.bbapap.2004.06.009DOI Listing
September 2004

Yeast beta-alanine synthase shares a structural scaffold and origin with dizinc-dependent exopeptidases.

J Biol Chem 2003 Dec 8;278(51):51851-62. Epub 2003 Oct 8.

Division of Molecular Structural Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-17177 Stockholm, Sweden.

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http://dx.doi.org/10.1074/jbc.M308674200DOI Listing
December 2003

Crystallization and preliminary X-ray analysis of beta-alanine synthase from the yeast Saccharomyces kluyveri.

Acta Crystallogr D Biol Crystallogr 2003 Jul 27;59(Pt 7):1267-9. Epub 2003 Jun 27.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1107/s0907444903009120DOI Listing
July 2003

Crystal structure of the productive ternary complex of dihydropyrimidine dehydrogenase with NADPH and 5-iodouracil. Implications for mechanism of inhibition and electron transfer.

J Biol Chem 2002 Apr 16;277(15):13155-66. Epub 2002 Jan 16.

Division of Molecular Structural Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-17177 Stockholm, Sweden.

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http://dx.doi.org/10.1074/jbc.M111877200DOI Listing
April 2002