Øystein L. Holla
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Author network for Øystein L. Holla by COREMINE medical


Publications 2015

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
PubMed 26534809

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB (2015)
Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing"
Biomed Res Int, 2015, 314651
PubMed 26558264

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
PubMed 26534810

Publications 2014

Holla OL, Bock G, Busk OL, Isfoss BL (2014)
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction
Endoscopy, 46 (6), 533-7
PubMed 24777424

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB (2014)
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing
Biomed Res Int, 2014, 210401
PubMed 25025039

Publications 2011

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
PubMed 21771976

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
PubMed 21324305

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
PubMed 22079632

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
PubMed 21531209

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
PubMed 22156580

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
PubMed 22078455

Publications 2010

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
PubMed 20659812

Publications 2009

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
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
PubMed 19148831

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
PubMed 19208450

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
PubMed 19828345

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
PubMed 19917273

Publications 2008

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
PubMed 18266662

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
PubMed 18631360

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
PubMed 19022446

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
PubMed 18570182

Publications 2007

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
PubMed 17328821

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
PubMed 17408384

Publications 2006

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
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
PubMed 16777760

Publications 2005

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
PubMed 15936313