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Publications by Øystein L. Holla

25 publications found

Original articles

Jensvoll H, Smeland MF, Tiller H, Holla ØL, Prescott TE, Vik A (2019)
A pregnant woman with pancytopenia
Tidsskr Nor Laegeforen, 139 (17)
DOI 10.4045/tidsskr.19.0022, PubMed 31746163

Holla ØL, Busk ØL, Tveten K, Hilmarsen HT, Strand L, Høyer H, Bakken A, Skjelbred CF, Braathen GJ (2015)
Clinical exome sequencing – Norwegian findings
Tidsskr Nor Laegeforen, 135 (20), 1833-7
DOI 10.4045/tidsskr.14.1442, PubMed 26534809

Høyer H, Busk ØL, Holla ØL, Strand L, Russell MB, Skjelbred CF, Braathen GJ (2015)
Hereditary peripheral neuropathies diagnosed by next-generation sequencing
Tidsskr Nor Laegeforen, 135 (20), 1838-44
DOI 10.4045/tidsskr.14.1002, PubMed 26534810

Tveten K, Holla ØL, Cameron J, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
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

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
Biochem Biophys Res Commun, 415 (4), 642-5
DOI 10.1016/j.bbrc.2011.10.127, PubMed 22079632

Tveten K, Strøm TB, Cameron J, Holla ØL, Berge KE, Leren TP (2011)
Characterization of a naturally occurring degradation product of the LDL receptor
Mol Genet Metab, 105 (1), 149-54
DOI 10.1016/j.ymgme.2011.10.008, PubMed 22078455

Holla ØL, Cameron J, Tveten K, Strøm TB, Berge KE, Laerdahl JK, Leren TP (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

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
Biochem Biophys Res Commun, 408 (4), 642-6
DOI 10.1016/j.bbrc.2011.04.077, PubMed 21531209

Holla ØL, Laerdahl JK, Strøm TB, Tveten K, Cameron J, Berge KE, Leren TP (2011)
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

Strøm TB, Holla ØL, Tveten K, Cameron J, Berge KE, Leren TP (2010)
Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain
Mol Genet Metab, 101 (1), 76-80
DOI 10.1016/j.ymgme.2010.05.003, PubMed 20659812

Strøm TB, Holla ØL, Cameron J, Berge KE, Leren TP (2009)
Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
Clin Chim Acta, 411 (3-4), 229-33
DOI 10.1016/j.cca.2009.11.008, PubMed 19917273

Holla ØL, Strøm TB, Cameron J, Berge KE, Leren TP (2009)
A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9
Mol Genet Metab, 99 (2), 149-56
DOI 10.1016/j.ymgme.2009.09.012, PubMed 19828345

Holla ØL, Nakken S, Mattingsdal M, Ranheim T, Berge KE, Defesche JC, Leren TP (2009)
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Mol Genet Metab, 96 (4), 245-52
DOI 10.1016/j.ymgme.2008.12.014, PubMed 19208450

Cameron J, Holla ØL, Kulseth MA, Leren TP, Berge KE (2009)
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
Clin Chim Acta, 403 (1-2), 131-5
DOI 10.1016/j.cca.2009.02.001, PubMed 19361455

Holla ØL, Kulseth MA, Berge KE, Leren TP, Ranheim T (2009)
Nonsense-mediated decay of human LDL receptor mRNA
Scand J Clin Lab Invest, 69 (3), 409-17
DOI 10.1080/00365510802707163, PubMed 19148831

Ranheim T, Mattingsdal M, Lindvall JM, Holla OL, Berge KE, Kulseth MA, Leren TP (2008)
Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9
J Cell Physiol, 217 (2), 459-67
DOI 10.1002/jcp.21519, PubMed 18570182

Cameron J, Holla ØL, Laerdahl JK, Kulseth MA, Berge KE, Leren TP (2008)
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

Cameron J, Holla ØL, Berge KE, Kulseth MA, Ranheim T, Leren TP, Laerdahl JK (2008)
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

Cameron J, Holla OL, Laerdahl JK, Kulseth MA, Ranheim T, Rognes T, Berge KE, Leren TP (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

Tveten K, Holla ØL, Ranheim T, Berge KE, Leren TP, Kulseth MA (2007)
4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor
FEBS J, 274 (8), 1881-93
DOI 10.1111/j.1742-4658.2007.05735.x, PubMed 17408384

Holla ØL, Cameron J, Berge KE, Ranheim T, Leren TP (2007)
Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly
BMC Cell Biol, 8, 9
DOI 10.1186/1471-2121-8-9, PubMed 17328821

Cameron J, Holla ØL, Ranheim T, Kulseth MA, Berge KE, Leren TP (2006)
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
Hum Mol Genet, 15 (9), 1551-8
DOI 10.1093/hmg/ddl077, PubMed 16571601

Holla ØL, Cameron J, Berge KE, Kulseth MA, Ranheim T, Leren TP (2006)
Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene
Scand J Clin Lab Invest, 66 (4), 317-28
DOI 10.1080/00365510600672775, PubMed 16777760

Holla Ø, Teie C, Berge KE, Leren TP (2005)
Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
Clin Chim Acta, 356 (1-2), 164-71
DOI 10.1016/j.cccn.2005.01.028, PubMed 15936313

Theses

Holla ØL (2007)
Hypercholesterolemia caused by structural alterations of the LDL receptor gene or by PCSK9-mediated degradation of theLDL receptors
In Series of dissertations submitted to the Faculty of Medicine, University of Oslo, Unipub, Oslo, no. 552, 1 b. (flere pag.)
BIBSYS 07166677x, ISBN 978-82-8072-727-5