Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
J Cameron, ØL Holla, T Ranheim… - Human molecular …, 2006 - academic.oup.com
The proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is involved in the post-
transcriptional regulation of the low-density lipoprotein (LDL) receptors (LDLR). Mutations in …
transcriptional regulation of the low-density lipoprotein (LDL) receptors (LDLR). Mutations in …
[HTML][HTML] Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing
H Høyer, GJ Braathen, ØL Busk, ØL Holla… - BioMed research …, 2014 - hindawi.com
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more
than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by …
than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by …
[HTML][HTML] Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity …
GBN Nordang, ØL Busk, K Tveten, HI Hanevik… - Molecular genetics and …, 2017 - Elsevier
Background Rare sequence variants in at least five genes are known to cause monogenic
obesity. In this study we aimed to investigate the prevalence of, and characterize, rare …
obesity. In this study we aimed to investigate the prevalence of, and characterize, rare …
[HTML][HTML] Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
ØL Holla, J Cameron, K Tveten, KE Berge… - Journal of lipid …, 2011 - ASBMB
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low density lipoprotein
receptor (LDLR) at the cell surface and disrupts the normal recycling of the LDLR. In this …
receptor (LDLR) at the cell surface and disrupts the normal recycling of the LDLR. In this …
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 …
K Tveten, ØL Holla, J Cameron, TB Strøm… - Human molecular …, 2012 - academic.oup.com
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the epidermal growth factor
homology domain repeat A of the low-density lipoprotein receptor (LDLR) at the cell surface …
homology domain repeat A of the low-density lipoprotein receptor (LDLR) at the cell surface …
[HTML][HTML] Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly
ØL Holla, J Cameron, KE Berge, T Ranheim, TP Leren - BMC cell biology, 2007 - Springer
Background Proprotein convertase subtilisin/kexin type 9 (PCSK9) post-transcriptionally
degrades the low density lipoprotein receptors (LDLR). However, it is unknown whether …
degrades the low density lipoprotein receptors (LDLR). However, it is unknown whether …
[PDF][PDF] Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
N Voisin, RE Schnur, S Douzgou, SM Hiatt… - The American Journal of …, 2021 - cell.com
The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the
transcriptional super elongation complex that regulates expression of genes involved in …
transcriptional super elongation complex that regulates expression of genes involved in …
[PDF][PDF] De novo variants in TAOK1 cause neurodevelopmental disorders
M Dulovic-Mahlow, J Trinh, KK Kandaswamy… - The American Journal of …, 2019 - cell.com
De novo variants represent a significant cause of neurodevelopmental delay and intellectual
disability. A genetic basis can be identified in only half of individuals who have …
disability. A genetic basis can be identified in only half of individuals who have …
QT prolongation predicts short-term mortality independent of comorbidity
C Gibbs, J Thalamus, DT Kristoffersen… - EP …, 2019 - academic.oup.com
Aims A prolonged corrected QT interval (QTc)≥ 500 ms is associated with high all-cause
mortality in hospitalized patients. We aimed to explore any difference in short-and long-term …
mortality in hospitalized patients. We aimed to explore any difference in short-and long-term …
[PDF][PDF] Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability
B Cogné, S Ehresmann, E Beauregard-Lacroix… - The American Journal of …, 2019 - cell.com
Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major
role in regulation of eukaryotic gene expression. This process is controlled by histone …
role in regulation of eukaryotic gene expression. This process is controlled by histone …