Genomes and Genes
Affiliation: University of Ottawa
- Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populationsJanice Mayne
Ottawa Institute of Systems Biology, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, and Department of Medicine, The Ottawa Hospital, 451 Smyth Road, Ottawa, ON K1H 8M5, Canada
Lipids Health Dis 12:70. 2013..Herein, we carried out full exonic sequencing of PCSK9 documenting the frequency of single and multiple PCSK9 variations and their effects on serum lipoprotein and PCSK9 levels in Caucasian Canadians...
- Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell cultureJanice Mayne
Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, Ontario, Canada
Clin Chem 57:1415-23. 2011..We studied the clinical and molecular characteristics of a novel PCSK9 loss-of-function sequence variant in a white French-Canadian family...
- Plasma PCSK9 levels correlate with cholesterol in men but not in womenJanice Mayne
Hormones, Growth and Development Program, Ottawa Health Research Institute, The Ottawa Hospital, University of Ottawa, Ottawa, Ont, Canada
Biochem Biophys Res Commun 361:451-6. 2007..The ratio of plasma PCSK9/LDLC increased in men carrying 'loss of function' PCSK9 variations. Our results suggest a gender difference in PCSK9 regulation and function with PCSK9 correlated to TC and LDLC in men but not women...
- A targeted deletion/insertion in the mouse Pcsk1 locus is associated with homozygous embryo preimplantation lethality, mutant allele preferential transmission and heterozygous female susceptibility to dietary fatMajambu Mbikay
Ottawa Health Research Institute and The Ottawa Hospital, 725 Parkdale Avenue, Ottawa, Ontario, Canada
Dev Biol 306:584-98. 2007..The complex phenotype exhibited by this Pcsk1 mutant mouse model may be due to PC1 deficiency aggravated by expression of aberrant gene products from the mutant allele...
- PCSK9 is phosphorylated by a Golgi casein kinase-like kinase ex vivo and circulates as a phosphoprotein in humansThilina Dewpura
Chronic Disease Program, Ottawa Health Research Institute, The Ottawa Hospital, Ottawa, Ontario, Canada
FEBS J 275:3480-93. 2008..Phosphorylation may therefore play an important regulatory role in PCSK9 function. These findings will be important for the future design of PCSK9 inhibitors...
- Plasma PCSK9 levels are significantly modified by statins and fibrates in humansJanice Mayne
Chronic Disease Program, Ottawa Health Research Institute, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada
Lipids Health Dis 7:22. 2008..PCSK9 circulates in human plasma, and we previously reported that plasma PCSK9 is positively correlated with total cholesterol and LDLC in men...
- PCSK2-null mice exhibit delayed intestinal motility, reduced refeeding response and altered plasma levels of several regulatory peptidesJeffrey Gagnon
Chronic Disease, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada
Life Sci 88:212-7. 2011....
- Of PCSK9, cholesterol homeostasis and parasitic infections: possible survival benefits of loss-of-function PCSK9 genetic polymorphismsMajambu Mbikay
Ottawa Health Research Institute, The Ottawa Hospital, University of Ottawa, 725 Parkdale Avenue, Ottawa, Ontario, Canada K1Y 4E9
Med Hypotheses 69:1010-7. 2007..If so, these SNPs should be significantly more frequent in Sub-Saharan Africa where parasitic diseases, malaria in particular, have been and still are major selective forces...
- Quantitative proteomic analysis of PCSK9 gain of function in human hepatic HuH7 cellsNicholas Denis
Ottawa Institute of Systems Biology, University of Ottawa, Ontario, Canada
J Proteome Res 10:2011-26. 2011..Moreover, we documented the novel down-regulation of the EH domain binding protein-1 (EHBP1) in a transgenic PCSK9 mouse model and its up-regulation in a PCSK9 knockout mouse model...
- PCSK9-deficient mice exhibit impaired glucose tolerance and pancreatic islet abnormalitiesMajambu Mbikay
Ottawa Hospital Research Institute, Ottawa, Ontario, Canada
FEBS Lett 584:701-6. 2010..Collectively, these observations suggest that PCSK9 may be necessary for the normal function of pancreatic islets...
- Analyses of PCSK9 post-translational modifications using time-of-flight mass spectrometryThilina Dewpura
Department of Biochemistry, Microbiology and Immunology, Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, ON, Canada K1H 8M5
Methods Mol Biol 768:167-87. 2011....
- Expression of PCSK1 (PC1/3), PCSK2 (PC2) and PCSK3 (furin) in mouse small intestineJeffrey Gagnon
The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada K1Y 4E9
Regul Pept 152:54-60. 2009..These histological data suggest that the 3 PCSKs may play differential and overlapping roles in prohormone processing in the three regions of the SI...
- Proprotein convertases subtilisin/kexin type 9, an enzyme turned escort protein: hepatic and extra hepatic functionsMajambu Mbikay
Chronic Disease Program, Ottawa Hospital Research Institute, Ottawa, Ontario Department of Medicine, University of Ottawa, Ottawa, Ontario Department of Biochemistry, Microbiology and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario Division of Endocrinology and Metabolism, The Ottawa Hospital, Ottawa, Ontario
J Diabetes 5:391-405. 2013....
- Expression and transient nuclear translocation of proprotein convertase 1 (PC1) during mouse preimplantation embryonic developmentCarly St Germain
Diseases of Aging Program, Ottawa Health Research Institute, The Ottawa Hospital, University of Ottawa, Ontario, Canada
Mol Reprod Dev 72:483-93. 2005..They also raise the possibility of a nuclear function for PC1 during zygote formation...