Øystein L Holla

Summary

Affiliation: Rikshospitalet University Hospital
Country: Norway

Publications

  1. pmc Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Center, Oslo, Norway
    BMC Cell Biol 8:9. 2007
  2. doi request reprint 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
    Kristian Tveten
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    Hum Mol Genet 21:1402-9. 2012
  3. doi request reprint Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
    Thea Bismo Strøm
    Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    Clin Chim Acta 411:229-33. 2010
  4. doi request reprint A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO 0027 Oslo, Norway
    Mol Genet Metab 99:149-56. 2010
  5. doi request reprint Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage
    Jamie Cameron
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO 0027 Oslo, Norway
    Atherosclerosis 203:161-5. 2009
  6. doi request reprint Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion
    Jamie Cameron
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway
    FEBS J 275:4121-33. 2008
  7. doi request reprint Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
    Thea Bismo Strøm
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO 0027 Oslo, Norway
    Biochem Biophys Res Commun 415:642-5. 2011
  8. doi request reprint Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
    Øystein L Holla
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo, Norway
    Biochem Biophys Res Commun 406:234-8. 2011
  9. doi request reprint Characterization of a naturally occurring degradation product of the LDL receptor
    Kristian Tveten
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO 0027 Oslo, Norway
    Mol Genet Metab 105:149-54. 2012
  10. doi request reprint Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO 0027 Oslo, Norway
    Mol Genet Metab 96:245-52. 2009

Detail Information

Publications17

  1. pmc Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Center, Oslo, Norway
    BMC Cell Biol 8:9. 2007
    ..However, it is unknown whether PCSK9 acts directly on the LDLR or if PCSK9 activates another protein that in turn causes degradation of the LDLR...
  2. doi request reprint 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
    Kristian Tveten
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    Hum Mol Genet 21:1402-9. 2012
    ....
  3. doi request reprint Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
    Thea Bismo Strøm
    Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    Clin Chim Acta 411:229-33. 2010
    ....
  4. doi request reprint A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO 0027 Oslo, Norway
    Mol Genet Metab 99:149-56. 2010
    ..Moreover, ubiquitination of lysines in the cytoplasmic domain does not appear to play a critical role in the PCSK9-mediated degradation of the LDLR...
  5. doi request reprint Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage
    Jamie Cameron
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO 0027 Oslo, Norway
    Atherosclerosis 203:161-5. 2009
    ..Characterization of how the naturally occurring mutations in the PCSK9 gene affect the function of PCSK9, may provide important insight into the mechanism by which PCSK9 degrades the LDL receptors...
  6. doi request reprint Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion
    Jamie Cameron
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway
    FEBS J 275:4121-33. 2008
    ....
  7. doi request reprint Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
    Thea Bismo Strøm
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO 0027 Oslo, Norway
    Biochem Biophys Res Commun 415:642-5. 2011
    ....
  8. doi request reprint Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
    Øystein L Holla
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo, Norway
    Biochem Biophys Res Commun 406:234-8. 2011
    ..The underlying mechanism could involve the binding of this peptide segment to positively charged structures which are important for PCSK9's activity. One possible candidate could be the histidine-rich C-terminal domain of PCSK9...
  9. doi request reprint Characterization of a naturally occurring degradation product of the LDL receptor
    Kristian Tveten
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO 0027 Oslo, Norway
    Mol Genet Metab 105:149-54. 2012
    ....
  10. doi request reprint Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO 0027 Oslo, Norway
    Mol Genet Metab 96:245-52. 2009
    ..Thus, bioinformatics analyses are valuable tools as a first screening of the effects of intronic mutations in the LDLR gene on pre-mRNA splicing...
  11. pmc Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
    Øystein L Holla
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Centre for Molecular Biology and Neuroscience, University of Oslo, Oslo, Norway
    J Lipid Res 52:1787-94. 2011
    ..We conclude that the role of the evolutionary, poorly conserved C-terminal domain for the activity of PCSK9 reflects its overall positive charge and size and not the presence of specific residues involved in protein-protein interactions...
  12. doi request reprint Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain
    Thea Bismo Strøm
    Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    Mol Genet Metab 101:76-80. 2010
    ..We show that this mutant receptor is degraded by PCSK9. Thus, the machinery which directs the LDLR:PCSK9 complex to the lysosomes for degradation, does not interact with the cytoplasmic domain of the LDLR...
  13. doi request reprint The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
    Thea Bismo Strøm
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    Biochem Biophys Res Commun 408:642-6. 2011
    ..Rather, one may speculate that sterical hindrance may prevent Class 5 mutants with bound LDL from entering the narrow recycling tubules of the sorting endosome...
  14. ncbi request reprint Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
    Jamie Cameron
    Medical Genetics Laboratory, Department of Meical Genetics, Rikshospitalet University Hospital, N 0027 Oslo, Norway
    Hum Mol Genet 15:1551-8. 2006
    ..Thus, PCSK9 or a factor acted upon by PCSK9, is secreted from the transfected cells and degrades LDLR both in transfected and untransfected cells...
  15. doi request reprint Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3
    Jamie Cameron
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Norway
    Clin Chim Acta 403:131-5. 2009
    ..However, a mild phenotype would have been expected from the published data showing that the mutation only causes skipping of exon 3...
  16. ncbi request reprint Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, N 0027 Oslo, Norway
    Clin Chim Acta 356:164-71. 2005
    ..In this study we have compared multiplex ligation-dependent probe amplification (MLPA) and long-range PCR to detect large deletions/duplications in the LDL receptor gene...
  17. ncbi request reprint 4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor
    Kristian Tveten
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Center, Oslo, Norway
    FEBS J 274:1881-93. 2007
    ..These data suggest that rescue of mutant low-density lipoprotein receptor is possible and that it might be feasible to develop pharmacologic chaperones to treat familial hypercholesterolemia patients with class 2 mutations...