Search Results - "Jon K Laerdahl"
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1
Centralspindlin Recruits ALIX to the Midbody during Cytokinetic Abscission in Drosophila via a Mechanism Analogous to Virus Budding
Published in Current biology (21-10-2019)“…Abscission, the final step of cytokinesis, cleaves the thin intercellular bridge connecting the two daughter cells [1–6]. The scaffold protein ALIX is a core…”
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Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
Published in PloS one (01-12-2023)“…Background Cholesteryl ester transfer protein (CETP) transfers cholesteryl esters in plasma from high density lipoprotein (HDL) to very low density lipoprotein…”
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3
Human NEIL3 is mainly a monofunctional DNA glycosylase removing spiroimindiohydantoin and guanidinohydantoin
Published in DNA repair (01-12-2013)“…Base excision repair is the major pathway for removal of oxidative DNA base damage. This pathway is initiated by DNA glycosylases, which recognize and excise…”
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4
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
Published in Journal of clinical lipidology (01-11-2023)“…•Homozygosity for mutation Q384K in the APOB gene causes hypobetalipoproteinemia.•Mutation Q384K disrupts the structure of the large lipid transfer (LLT)…”
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5
Complex alternative splicing of human Endonuclease V mRNA, but evidence for only a single protein isoform
Published in PloS one (08-11-2019)“…Endonuclease V (ENDOV) is a ribonuclease with affinity for inosine which is the deamination product of adenosine. The genomes of most organisms, including…”
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6
Evolutionary paths of the cAMP-dependent protein kinase (PKA) catalytic subunits
Published in PloS one (12-04-2013)“…3',5'-cyclic adenosine monophosphate (cAMP) dependent protein kinase or protein kinase A (PKA) has served as a prototype for the large family of protein…”
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Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
Published in Journal of lipid research (01-10-2011)“…Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low density lipoprotein receptor (LDLR) at the cell surface and disrupts the normal…”
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The human homolog of Escherichia coli endonuclease V is a nucleolar protein with affinity for branched DNA structures
Published in PloS one (05-11-2012)“…Loss of amino groups from adenines in DNA results in the formation of hypoxanthine (Hx) bases with miscoding properties. The primary enzyme in Escherichia coli…”
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Enzymatic activities and DNA substrate specificity of Mycobacterium tuberculosis DNA helicase XPB
Published in PloS one (16-05-2012)“…XPB, also known as ERCC3 and RAD25, is a 3' → 5' DNA repair helicase belonging to the superfamily 2 of helicases. XPB is an essential core subunit of the…”
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10
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
Published in FEBS open bio (01-01-2014)“…•Mutation G805R is in the transmembrane domain of the LDLR.•A polar residue in the transmembrane domain induced metalloproteinase cleavage.•Mutation G805R…”
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Schizosaccharomyces pombe Ofd2 is a nuclear 2-oxoglutarate and iron dependent dioxygenase interacting with histones
Published in PloS one (16-09-2011)“…2-Oxoglutarate (2OG) dependent dioxygenases are ubiquitous iron containing enzymes that couple substrate oxidation to the conversion of 2OG to succinate and…”
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Annotated expressed sequence tags (ESTs) from pre-smolt Atlantic salmon (Salmo salar) in a searchable data resource
Published in BMC genomics (02-07-2007)“…To identify as many different transcripts/genes in the Atlantic salmon genome as possible, it is crucial to acquire good cDNA libraries from different tissues…”
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13
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?
Published in Journal of inherited metabolic disease (01-03-2023)“…Click here to access the podcast for this paper…”
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14
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA)
Published in PloS one (13-04-2012)“…The genes PRKACA and PRKACB encode the principal catalytic (C) subunits of protein kinase A (PKA) Cα and Cβ, respectively. Cα is expressed in all eukaryotic…”
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15
Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4
Published in Gut (01-12-2015)“…IBD is a group of complex, systemic disorders associated with intestinal inflammation and extraintestinal manifestations. Recent studies revealed Mendelian…”
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16
Early-onset lymphoma and extensive embryonic apoptosis in two domain-specific Fen1 mice mutants
Published in Cancer research (Chicago, Ill.) (15-06-2008)“…Flap endonuclease 1 (FEN1) processes Okazaki fragments in lagging strand DNA synthesis, and FEN1 is involved in several DNA repair pathways. The interaction of…”
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Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-d-phosphohexomutase superfamily
Published in Scientific reports (27-03-2020)“…Human phosphoglucomutase 1 (PGM1) is an evolutionary conserved enzyme that belongs to the ubiquitous and ancient α- d -phosphohexomutases, a large enzyme…”
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Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
Published in Human molecular genetics (15-09-2019)“…Hydrolysis of cholesteryl esters and triglycerides in the lysosome is performed by lysosomal acid lipase (LAL). In this study we have investigated how 23…”
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DNA base repair - recognition and initiation of catalysis
Published in FEMS microbiology reviews (01-11-2009)“…Endogenous DNA damage induced by hydrolysis, reactive oxygen species and alkylation modifies DNA bases and the structure of the DNA duplex. Numerous mechanisms…”
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Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
Published in Human molecular genetics (01-05-2017)“…Familial hypercholesterolemia (FH) is caused by mutations in the low density lipoprotein receptor (LDLR) gene. To study the impact of mutations affecting the…”
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