Search Results - "Holla, Ø. L."
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1
Characterization of novel mutations in the catalytic domain of the PCSK9 gene
Published in Journal of internal medicine (01-04-2008)“… Objectives. To expand our understanding of the structure and function of proprotein convertase subtilisin/kexin type 9 (PCSK9) by studying how naturally…”
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Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene
Published in Scandinavian journal of clinical and laboratory investigation (2006)“…Objective. Missense mutations in the proprotein convertase subtilisin kexin type 9 (PCSK9) gene have been found to cause autosomal dominant…”
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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
Published in Human molecular genetics (15-03-2012)“…Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the epidermal growth factor homology domain repeat A of the low-density lipoprotein receptor…”
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Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
Published in Human molecular genetics (01-05-2006)“…The proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is involved in the post-transcriptional regulation of the low-density lipoprotein (LDL)…”
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Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
Published in Clinica chimica acta (01-06-2005)“…Familial hypercholesterolemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor gene. In this study we have compared multiplex…”
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