Jon K. Lærdahl
- Research scientist; PhD
- +47 230 13 908
Jon works on structural and applied bioinformatics. More information here: https://folk.uio.no/jonkl
Publications 2023
The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?
J Inherit Metab Dis, 46 (2), 159-160
DOI 10.1002/jimd.12601, PubMed 36843136
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
J Clin Lipidol, 17 (6), 800-807
DOI 10.1016/j.jacl.2023.08.009, PubMed 37718180
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
PLoS One, 18 (12), e0294764
DOI 10.1371/journal.pone.0294764, PubMed 38039300
Publications 2021
A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis
Sci Transl Med, 13 (582)
DOI 10.1126/scitranslmed.abb0036, PubMed 33627483
Publications 2020
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily
Sci Rep, 10 (1), 5656
DOI 10.1038/s41598-020-62548-0, PubMed 32221390
The DIRAC code for relativistic molecular calculations
J Chem Phys, 152 (20), 204104
DOI 10.1063/5.0004844, PubMed 32486677
Publications 2019
Complex alternative splicing of human Endonuclease V mRNA, but evidence for only a single protein isoform
PLoS One, 14 (11), e0225081
DOI 10.1371/journal.pone.0225081, PubMed 31703097
Centralspindlin Recruits ALIX to the Midbody during Cytokinetic Abscission in Drosophila via a Mechanism Analogous to Virus Budding
Curr Biol, 29 (20), 3538-3548.e7
DOI 10.1016/j.cub.2019.09.025, PubMed 31607533
Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein
Proteins, 88 (3), 440-448
DOI 10.1002/prot.25821, PubMed 31587363
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
Hum Mol Genet, 28 (18), 3043-3052
DOI 10.1093/hmg/ddz114, PubMed 31131398
Publications 2018
Excision of the doubly methylated base N4,5-dimethylcytosine from DNA by Escherichia coli Nei and Fpg proteins
Philos Trans R Soc Lond B Biol Sci, 373 (1748)
DOI 10.1098/rstb.2017.0337, PubMed 29685966
Publications 2017
Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
Hum Mol Genet, 26 (9), 1634-1642
DOI 10.1093/hmg/ddx068, PubMed 28334946
Evolution of the cAMP-dependent protein kinase (PKA) catalytic subunit isoforms
PLoS One, 12 (7), e0181091
DOI 10.1371/journal.pone.0181091, PubMed 28742821
Publications 2016
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
DOI 10.1093/brain/aww244, PubMed 27742667
Publications 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, 24 (20), 5836-44
DOI 10.1093/hmg/ddv304, PubMed 26220972
Publications 2014
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, 4, 321-7
DOI 10.1016/j.fob.2014.03.007, PubMed 24918045
Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4
Gut, 64 (12), 1889-97
DOI 10.1136/gutjnl-2014-308541, PubMed 25367873
Publications 2013
A new family of proteins related to the HEAT-like repeat DNA glycosylases with affinity for branched DNA structures
J Struct Biol, 183 (1), 66-75
DOI 10.1016/j.jsb.2013.04.007, PubMed 23623903
Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4
Hepatology, 58 (3), 1074-83
DOI 10.1002/hep.25977, PubMed 22821403
Human NEIL3 is mainly a monofunctional DNA glycosylase removing spiroimindiohydantoin and guanidinohydantoin
DNA Repair (Amst), 12 (12), 1159-64
DOI 10.1016/j.dnarep.2013.04.026, PubMed 23755964
Evolutionary paths of the cAMP-dependent protein kinase (PKA) catalytic subunits
PLoS One, 8 (4), e60935
DOI 10.1371/journal.pone.0060935, PubMed 23593352
Effects of conserved residues and naturally occurring mutations on Mycobacterium tuberculosis RecG helicase activity
Microbiology (Reading), 160 (Pt 1), 217-227
DOI 10.1099/mic.0.072140-0, PubMed 24169816
Publications 2012
Enzymatic activities and DNA substrate specificity of Mycobacterium tuberculosis DNA helicase XPB
PLoS One, 7 (5), e36960
DOI 10.1371/journal.pone.0036960, PubMed 22615856
The human homolog of Escherichia coli endonuclease V is a nucleolar protein with affinity for branched DNA structures
PLoS One, 7 (11), e47466
DOI 10.1371/journal.pone.0047466, PubMed 23139746
Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci
J Hepatol, 57 (2), 366-75
DOI 10.1016/j.jhep.2012.03.031, PubMed 22521342
The Schizosaccharomyces pombe AlkB homolog Abh1 exhibits AP lyase activity but no demethylase activity
DNA Repair (Amst), 11 (5), 453-62
DOI 10.1016/j.dnarep.2012.01.014, PubMed 22365419
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA)
PLoS One, 7 (4), e34838
DOI 10.1371/journal.pone.0034838, PubMed 22514673
Mycobacterium tuberculosis RecG binds and unwinds model DNA substrates with a preference for Holliday junctions
Microbiology (Reading), 158 (Pt 8), 1982-1993
DOI 10.1099/mic.0.058693-0, PubMed 22628485
Publications 2011
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
J Lipid Res, 52 (10), 1787-94
DOI 10.1194/jlr.M018093, PubMed 21771976
Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
Biochem Biophys Res Commun, 406 (2), 234-8
DOI 10.1016/j.bbrc.2011.02.023, PubMed 21324305
Schizosaccharomyces pombe Ofd2 is a nuclear 2-oxoglutarate and iron dependent dioxygenase interacting with histones
PLoS One, 6 (9), e25188
DOI 10.1371/journal.pone.0025188, PubMed 21949882
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, 21 (6), 1402-9
DOI 10.1093/hmg/ddr578, PubMed 22156580
Publications 2010
Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis
PLoS One, 5 (8), e12403
DOI 10.1371/journal.pone.0012403, PubMed 20811628
Schizosaccharomyces pombe encodes a mutated AP endonuclease 1
DNA Repair (Amst), 10 (3), 296-305
DOI 10.1016/j.dnarep.2010.11.014, PubMed 21193357
Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
Nat Genet, 43 (1), 17-9
DOI 10.1038/ng.728, PubMed 21151127
Publications 2009
DNA base repair--recognition and initiation of catalysis
FEMS Microbiol Rev, 33 (6), 1044-78
DOI 10.1111/j.1574-6976.2009.00188.x, PubMed 19659577
Studies on multiple forms of proGRP in serum from small cell lung cancer patients
Tumour Biol, 30 (5-6), 265-75
DOI 10.1159/000258135, PubMed 19907206
Publications 2008
Characterization of novel mutations in the catalytic domain of the PCSK9 gene
J Intern Med, 263 (4), 420-31
DOI 10.1111/j.1365-2796.2007.01915.x, PubMed 18266662
Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion
FEBS J, 275 (16), 4121-33
DOI 10.1111/j.1742-4658.2008.06553.x, PubMed 18631360
Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage
Atherosclerosis, 203 (1), 161-5
DOI 10.1016/j.atherosclerosis.2008.10.007, PubMed 19022446
Expression and purification of NEIL3, a human DNA glycosylase homolog
Protein Expr Purif, 65 (2), 160-4
DOI 10.1016/j.pep.2008.11.014, PubMed 19121397
Early-onset lymphoma and extensive embryonic apoptosis in two domain-specific Fen1 mice mutants
Cancer Res, 68 (12), 4571-9
DOI 10.1158/0008-5472.CAN-08-0168, PubMed 18559501
Publications 2007
Annotated expressed sequence tags (ESTs) from pre-smolt Atlantic salmon (Salmo salar) in a searchable data resource
BMC Genomics, 8, 209
DOI 10.1186/1471-2164-8-209, PubMed 17605782
Structural insight into repair of alkylated DNA by a new superfamily of DNA glycosylases comprising HEAT-like repeats
Nucleic Acids Res, 35 (7), 2451-9
DOI 10.1093/nar/gkm039, PubMed 17395642
An extensive resource of single nucleotide polymorphism markers associated with Atlantic salmon (Salmo salar) expressed sequences
Aquaculture, 265 (1-4), 82-90
DOI 10.1016/j.aquaculture.2007.01.037
OGG1: From Structural Analysis to the Knockout Mouse
In Oxidative Damage to Nucleic Acids (Evans MD, Cooke MS, eds.), Landes Bioscience and Springer Science+Business Media, 67-80
DOI 10.1007/978-0-387-72974-9_5, PublikaID 44, ISBN 978-0-387-72973-2
Publications 2006
preAssemble: a tool for automatic sequencer trace data processing
BMC Bioinformatics, 7, 22
DOI 10.1186/1471-2105-7-22, PubMed 16417643
Publications 2005
An EST-based approach for identifying genes expressed in the intestine and gills of pre-smolt Atlantic salmon (Salmo salar)
BMC Genomics, 6, 171
DOI 10.1186/1471-2164-6-171, PubMed 16321156
Nucleophilic identity substitution reactions. The reaction between hydrogen fluoride and protonated alkyl fluorides
Org Biomol Chem, 4 (1), 135-41
DOI 10.1039/b513315g, PubMed 16358008
PARALIGN: rapid and sensitive sequence similarity searches powered by parallel computing technology
Nucleic Acids Res, 33 (Web Server issue), W535-9
DOI 10.1093/nar/gki423, PubMed 15980529
Publications 2003
Nucleophilic identity substitution reactions. The reaction between ammonia and protonated amines
Org Biomol Chem, 1 (16), 2943-50
DOI 10.1039/b302270f, PubMed 12968346
Nucleophilic identity substitution reactions. The reaction between water and protonated alcohols
Org Biomol Chem, 1 (16), 2935-42
DOI 10.1039/b302268d, PubMed 12968345
Publications 2000
D- or L-alanine: that is the question
Chemphyschem, 1 (1), 60-2
DOI 10.1002/1439-7641(20000804)1:1<60::AID-CPHC60>3.0.CO;2-M, PubMed 23696263
Fully relativistic coupled cluster treatment for parity-violating energy differences in molecules
Phys Rev Lett, 85 (15), 3105-8
DOI 10.1103/PhysRevLett.85.3105, PubMed 11019277