Jon K Laerdahl

Jon K Laerdahl

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Jon K Laerdahl

Jon K Laerdahl

Publications by authors named "Jon K Laerdahl"

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Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.

Hum Mol Genet 2019 Sep;28(18):3043-3052

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1093/hmg/ddz114DOI Listing
September 2019

Excision of the doubly methylated base ,5-dimethylcytosine from DNA by Nei and Fpg proteins.

Philos Trans R Soc Lond B Biol Sci 2018 06;373(1748)

Department of Chemistry, Bioscience and Environmental Technology-Centre for Organelle Research, Faculty of Science and Technology, University of Stavanger, PO Box 8600 Forus, 4021 Stavanger, Norway

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http://dx.doi.org/10.1098/rstb.2017.0337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915725PMC
June 2018

Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.

Hum Mol Genet 2017 05;26(9):1634-1642

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital.

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http://dx.doi.org/10.1093/hmg/ddx068DOI Listing
May 2017

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Brain 2016 12 14;139(Pt 12):3109-3120. Epub 2016 Oct 14.

1 The Institute of Basic Medical Sciences, Department of Molecular Medicine, University of Oslo, Oslo, Norway

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http://dx.doi.org/10.1093/brain/aww244DOI Listing
December 2016

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.

Gut 2015 Dec 3;64(12):1889-97. Epub 2014 Nov 3.

Division of Gastroenterology, Hepatology and Endoscopy, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1136/gutjnl-2014-308541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512923PMC
December 2015

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.

Hum Mol Genet 2015 Oct 28;24(20):5836-44. Epub 2015 Jul 28.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics,

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http://dx.doi.org/10.1093/hmg/ddv304DOI Listing
October 2015

Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

FEBS Open Bio 2014 19;4:321-7. Epub 2014 Mar 19.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1016/j.fob.2014.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048843PMC
June 2014

Effects of conserved residues and naturally occurring mutations on Mycobacterium tuberculosis RecG helicase activity.

Microbiology 2014 Jan 29;160(Pt 1):217-227. Epub 2013 Oct 29.

1Centre for Molecular Biology and Neuroscience and Department of Microbiology, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1099/mic.0.072140-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917224PMC
January 2014

Human NEIL3 is mainly a monofunctional DNA glycosylase removing spiroimindiohydantoin and guanidinohydantoin.

DNA Repair (Amst) 2013 Dec 5;12(12):1159-64. Epub 2013 Jun 5.

Department of Microbiology, University of Oslo, Oslo University Hospital, Rikshospitalet, PO Box 4950, Nydalen, NO-0424 Oslo, Norway.

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http://dx.doi.org/10.1016/j.dnarep.2013.04.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840045PMC
December 2013

Evolutionary paths of the cAMP-dependent protein kinase (PKA) catalytic subunits.

PLoS One 2013 12;8(4):e60935. Epub 2013 Apr 12.

Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060935PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625193PMC
October 2013

A new family of proteins related to the HEAT-like repeat DNA glycosylases with affinity for branched DNA structures.

J Struct Biol 2013 Jul 25;183(1):66-75. Epub 2013 Apr 25.

Department of Microbiology, Oslo University Hospital and University of Oslo, P.O. Box 4950 Nydalen, 0424 Oslo, Norway.

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http://dx.doi.org/10.1016/j.jsb.2013.04.007DOI Listing
July 2013

Mycobacterium tuberculosis RecG binds and unwinds model DNA substrates with a preference for Holliday junctions.

Microbiology 2012 Aug 24;158(Pt 8):1982-93. Epub 2012 May 24.

Centre for Molecular Biology and Neuroscience and Department of Microbiology, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1099/mic.0.058693-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542137PMC
August 2012

The Schizosaccharomyces pombe AlkB homolog Abh1 exhibits AP lyase activity but no demethylase activity.

DNA Repair (Amst) 2012 May 23;11(5):453-62. Epub 2012 Feb 23.

Department of Microbiology, Oslo University Hospital HF Rikshospitalet, and Centre for Molecular Biology and Neuroscience (CMBN), University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1016/j.dnarep.2012.01.014DOI Listing
May 2012

Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.

Hum Mol Genet 2012 Mar 8;21(6):1402-9. Epub 2011 Dec 8.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1093/hmg/ddr578DOI Listing
March 2012

Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

J Lipid Res 2011 Oct 19;52(10):1787-94. Epub 2011 Jul 19.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Centre for Molecular Biology and Neuroscience, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1194/jlr.M018093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173001PMC
October 2011

Schizosaccharomyces pombe encodes a mutated AP endonuclease 1.

DNA Repair (Amst) 2011 Mar 28;10(3):296-305. Epub 2010 Dec 28.

Department of Microbiology, Oslo University Hospital HF Rikshospitalet, PO Box 4950 Nydalen, NO-0424 Oslo, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S15687864100039
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http://dx.doi.org/10.1016/j.dnarep.2010.11.014DOI Listing
March 2011

Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor.

Biochem Biophys Res Commun 2011 Mar 13;406(2):234-8. Epub 2011 Feb 13.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo, Norway.

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http://dx.doi.org/10.1016/j.bbrc.2011.02.023DOI Listing
March 2011

Studies on multiple forms of proGRP in serum from small cell lung cancer patients.

Tumour Biol 2009 12;30(5-6):265-75. Epub 2009 Nov 12.

Department of Medical Biochemistry, Radiumhospitalet, Oslo, Norway. marisno @ ulrik.uio.no

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http://dx.doi.org/10.1159/000258135DOI Listing
February 2010

DNA base repair--recognition and initiation of catalysis.

FEMS Microbiol Rev 2009 Nov 3;33(6):1044-78. Epub 2009 Jul 3.

Centre for Molecular Biology and Neuroscience (CMBN), Rikshospitalet University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1111/j.1574-6976.2009.00188.xDOI Listing
November 2009

Expression and purification of NEIL3, a human DNA glycosylase homolog.

Protein Expr Purif 2009 Jun 13;65(2):160-4. Epub 2008 Dec 13.

Centre for Molecular Biology and Neuroscience, Department of Molecular Biology, Institute of Microbiology, Rikshospitalet Medical Centre, Sognsvannsveien 28, N0027 Oslo, Norway.

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http://dx.doi.org/10.1016/j.pep.2008.11.014DOI Listing
June 2009

Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.

Atherosclerosis 2009 Mar 17;203(1):161-5. Epub 2008 Oct 17.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO-0027 Oslo, Norway.

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http://dx.doi.org/10.1016/j.atherosclerosis.2008.10.007DOI Listing
March 2009

Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.

FEBS J 2008 Aug 9;275(16):4121-33. Epub 2008 Jul 9.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1111/j.1742-4658.2008.06553.xDOI Listing
August 2008

Early-onset lymphoma and extensive embryonic apoptosis in two domain-specific Fen1 mice mutants.

Cancer Res 2008 Jun;68(12):4571-9

Centre for Molecular Biology and Neuroscience and Institute of Medical Microbiology, Rikshospitalet Medical Center and University of Oslo, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-08-0168DOI Listing
June 2008

Structural insight into repair of alkylated DNA by a new superfamily of DNA glycosylases comprising HEAT-like repeats.

Nucleic Acids Res 2007 29;35(7):2451-9. Epub 2007 Mar 29.

Centre for Molecular Biology and Neuroscience and Institute of Medical Microbiology, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkm039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1874660PMC
June 2007

Nucleophilic identity substitution reactions. The reaction between hydrogen fluoride and protonated alkyl fluorides.

Org Biomol Chem 2006 Jan 28;4(1):135-41. Epub 2005 Nov 28.

Department of Chemistry, University of Oslo, P.O. Box 1033, Blindern, N-0315, Oslo, Norway.

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http://dx.doi.org/10.1039/b513315gDOI Listing
January 2006

preAssemble: a tool for automatic sequencer trace data processing.

BMC Bioinformatics 2006 Jan 17;7:22. Epub 2006 Jan 17.

Norwegian School of Veterinary Science, BasAM-Genetics, PO Box 8146 Dep, NO-0033 Oslo, Norway.

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http://dx.doi.org/10.1186/1471-2105-7-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352386PMC
January 2006

An EST-based approach for identifying genes expressed in the intestine and gills of pre-smolt Atlantic salmon (Salmo salar).

BMC Genomics 2005 Dec 1;6:171. Epub 2005 Dec 1.

Norwegian School of Veterinary Science, Department of Basic Sciences and Aquatic Medicine, Oslo, Norway.

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http://dx.doi.org/10.1186/1471-2164-6-171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1318472PMC
December 2005

PARALIGN: rapid and sensitive sequence similarity searches powered by parallel computing technology.

Nucleic Acids Res 2005 Jul;33(Web Server issue):W535-9

Centre for Molecular Biology and Neuroscience, Institute of Medical Microbiology, University of Oslo and Rikshospitalet-Radiumhospitalet, HF NO-0027 Oslo, Norway.

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http://dx.doi.org/10.1093/nar/gki423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1160184PMC
July 2005

Nucleophilic identity substitution reactions. The reaction between water and protonated alcohols.

Org Biomol Chem 2003 Aug;1(16):2935-42

Department of Chemistry, University of Oslo, PO Box 1033, Blindern, N-0315 Oslo, Norway.

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August 2003

Nucleophilic identity substitution reactions. The reaction between ammonia and protonated amines.

Org Biomol Chem 2003 Aug;1(16):2943-50

Department of Chemistry, University of Oslo, PO Box 1033, Blindern, N-0315 Oslo, Norway.

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August 2003