Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs, Current Atherosclerosis Reports, vol.48, issue.23, p.439, 2014. ,
DOI : 10.1002/hep.22354
Familial hypercholesterolemia, The American Journal of Medicine, vol.58, issue.2, pp.8-16, 1978. ,
DOI : 10.1016/0002-9343(75)90563-X
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding., Proc. Natl. Acad. Sci. USA, pp.6919-6923, 1987. ,
DOI : 10.1073/pnas.84.19.6919
URL : http://www.pnas.org/content/84/19/6919.full.pdf
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia, Nature Genetics, vol.12, issue.2, pp.154-156, 2003. ,
DOI : 10.1146/annurev.cellbio.12.1.697
The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation, Proc. Natl. Acad. Sci. USA, pp.928-933, 2003. ,
DOI : 10.1161/01.ATV.20.4.1089
Catalytic Activity Is Not Required for Secreted PCSK9 to Reduce Low Density Lipoprotein Receptors in HepG2 Cells, Journal of Biological Chemistry, vol.327, issue.Pt 3, pp.20799-20803, 2007. ,
DOI : 10.1056/NEJMoa054013
p.Leu167del Mutation, Human Mutation, vol.257, issue.2, pp.83-87, 2013. ,
DOI : 10.1007/s11883-001-0061-4
Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein, Science, vol.292, issue.5520, pp.1394-1398, 2001. ,
DOI : 10.1126/science.1060458
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217, European Heart Journal, vol.25, issue.17, pp.1384-1394, 2016. ,
DOI : 10.1093/eurheartj/ehs038
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights, Arteriosclerosis, Thrombosis, and Vascular Biology, vol.36, issue.12, pp.2439-2445, 2016. ,
DOI : 10.1161/ATVBAHA.116.308027
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype???phenotype relationship, and clinical outcome, European Heart Journal, vol.37, issue.9, pp.560-565, 2015. ,
DOI : 10.1038/ng1509
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society, European Heart Journal, vol.97, issue.14, pp.3478-3490, 2013. ,
DOI : 10.1136/hrt.2010.213975
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France, Human Mutation, vol.31, issue.11, pp.1811-1824, 2010. ,
DOI : 10.1002/humu.21348
URL : https://hal.archives-ouvertes.fr/hal-00573066
Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyCLINICAL PERSPECTIVE, Circulation: Cardiovascular Genetics, vol.8, issue.6, pp.823-831, 2015. ,
DOI : 10.1161/CIRCGENETICS.115.001129
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia, Human Molecular Genetics, vol.322, issue.7, pp.1817-1828, 2014. ,
DOI : 10.1126/science.1161524
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia, European Heart Journal, vol.298, issue.Suppl. 1, pp.1360-1366, 2012. ,
DOI : 10.1126/science.1078124
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing, Journal of Internal Medicine, vol.14, issue.4, pp.396-403, 2014. ,
DOI : 10.1038/nrg3455
Exome sequencing as a tool for Mendelian disease gene discovery, Nature Reviews Genetics, vol.43, issue.11, pp.745-755, 2011. ,
DOI : 10.1038/ng.806
Exome Sequencing in Suspected Monogenic DyslipidemiasCLINICAL PERSPECTIVE, Circulation: Cardiovascular Genetics, vol.8, issue.2, pp.343-350, 2015. ,
DOI : 10.1161/CIRCGENETICS.114.000776
URL : http://circgenetics.ahajournals.org/content/circcvg/8/2/343.full.pdf
Familial hypobetalipoproteinemia, Journal of Lipid Research, vol.38, issue.5, pp.878-883, 2003. ,
DOI : 10.1161/01.ATV.19.10.2368
Familial defective apolipoprotein B-100: A??review, Journal of Clinical Lipidology, vol.10, issue.6, pp.1297-1302, 2016. ,
DOI : 10.1016/j.jacl.2016.09.009
R3531C Mutation in the Apolipoprotein B Gene Is Not Sufficient to Cause Hypercholesterolemia, Arteriosclerosis, Thrombosis, and Vascular Biology, vol.20, issue.10, pp.76-82, 2000. ,
DOI : 10.1161/01.ATV.20.10.e76
Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100., Journal of Clinical Investigation, vol.101, issue.5, pp.1084-1093, 1998. ,
DOI : 10.1172/JCI1847
Differences in the Phenotypic Characteristics of Subjects With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia, Arteriosclerosis, Thrombosis, and Vascular Biology, vol.15, issue.10, pp.1719-1729, 1995. ,
DOI : 10.1161/01.ATV.15.10.1719
The Molecular Mechanism for the Genetic Disorder Familial Defective Apolipoprotein B100, Journal of Biological Chemistry, vol.256, issue.12, pp.9214-9218, 2001. ,
DOI : 10.1172/JCI5549
mutation that causes autosomal dominant hypercholesterolemia, Molecular Genetics & Genomic Medicine, vol.467, issue.3, pp.155-161, 2013. ,
DOI : 10.1038/nature09534
mutations, Journal of Medical Genetics, vol.45, issue.8, pp.537-544, 2014. ,
DOI : 10.1038/ng.2797
Proprotein Convertase Subtilisin/Kexin Type 9 Interacts With Apolipoprotein B and Prevents Its Intracellular Degradation, Irrespective of the Low-Density Lipoprotein Receptor, Arteriosclerosis, Thrombosis, and Vascular Biology, vol.32, issue.7, pp.1585-1595, 2012. ,
DOI : 10.1161/ATVBAHA.112.250043
Dissection of the Endogenous Cellular Pathways of PCSK9-induced Low Density Lipoprotein Receptor Degradation, Journal of Biological Chemistry, vol.258, issue.42, pp.28856-28864, 2009. ,
DOI : 10.1517/14728220802600715
The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation, Journal of Biological Chemistry, vol.269, issue.5, pp.1573-1590, 2017. ,
DOI : 10.1002/jcc.20291
Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100, Klinische Wochenschrift, vol.100, issue.7, pp.320-324, 1991. ,
DOI : 10.1161/01.ATV.10.4.577
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100, Human Mutation, vol.18, issue.4, pp.340-345, 1996. ,
DOI : 10.1161/01.ATV.11.2.379
A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect, Atherosclerosis, vol.157, issue.2, pp.524-525, 2001. ,
DOI : 10.1016/S0021-9150(01)00535-4
Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100, Arteriosclerosis, Thrombosis, and Vascular Biology, vol.13, issue.7, pp.1076-1081, 1993. ,
DOI : 10.1161/01.ATV.13.7.1076
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia, Clin. Chem, vol.47, pp.438-443, 2001. ,
A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100, Annals of Clinical Biochemistry, vol.47, issue.5, pp.487-490, 2010. ,
DOI : 10.1258/acb.2010.010089
URL : http://journals.sagepub.com/doi/pdf/10.1258/acb.2010.010089
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia, Atherosclerosis, vol.186, issue.2, pp.433-440, 2006. ,
DOI : 10.1016/j.atherosclerosis.2005.08.015
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy, Atherosclerosis, vol.227, issue.2, pp.342-348, 2013. ,
DOI : 10.1016/j.atherosclerosis.2013.01.007
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease, Journal of Clinical Lipidology, vol.10, issue.6, pp.1462-1469, 2016. ,
DOI : 10.1016/j.jacl.2016.09.003
Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015), Expert Opinion on Therapeutic Patents, vol.36, issue.129, pp.1377-1392, 2011. ,
DOI : 10.1038/nbt0516-452a
Objectives, Design and Recruitment of a Familial and Longitudinal Cohort for Studying Gene-Environment Interactions in the Field of Cardiovascular Risk: The Stanislas Cohort, Clinical Chemistry and Laboratory Medicine, vol.35, issue.1, pp.35-42, 1998. ,
DOI : 10.1016/0009-8981(91)90106-M
Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG3500???GLN and ARG3531???CYS mutations in a French population, Human Mutation, vol.86, issue.2, pp.160-163, 1997. ,
DOI : 10.1002/(SICI)1098-1004(1997)10:2<160::AID-HUMU8>3.0.CO;2-O
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases, Nucleic Acids Research, vol.4, issue.4, p.53, 2012. ,
DOI : 10.1038/msb.2008.27
NARC-1/PCSK9 and Its Natural Mutants, Journal of Biological Chemistry, vol.105, issue.47, pp.48865-48875, 2004. ,
DOI : 10.1086/302370
URL : http://www.jbc.org/content/279/47/48865.full.pdf
A new method for measurement of total plasma PCSK9: clinical applications, Journal of Lipid Research, vol.68, issue.1, pp.140-149, 2010. ,
DOI : 10.1073/pnas.0903849106