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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2003-5-30
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pubmed:databankReference |
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pubmed:abstractText |
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AbifadelMarianneM,
pubmed-author:AllardDelphineD,
pubmed-author:BenjannetSuzanneS,
pubmed-author:BeuclerIsabelI,
pubmed-author:BoileauCatherineC,
pubmed-author:BruckertEricE,
pubmed-author:ChambazJeanJ,
pubmed-author:ChanuBernardB,
pubmed-author:CruaudCorinneC,
pubmed-author:DerréAurélieA,
pubmed-author:DevillersMartineM,
pubmed-author:ErlichDanièleD,
pubmed-author:FarnierMichelM,
pubmed-author:JunienClaudineC,
pubmed-author:KrempfMichelM,
pubmed-author:LecerfJean-MichelJM,
pubmed-author:LucGeraldG,
pubmed-author:MoulinPhilippeP,
pubmed-author:OuguerramKhadijaK,
pubmed-author:PratAnnickA,
pubmed-author:RabèsJean-PierreJP,
pubmed-author:SeidahNabil GNG,
pubmed-author:VarretMathildeM,
pubmed-author:VillégerLudovicL,
pubmed-author:WeissenbachJeanJ,
pubmed-author:WickhamLouiseL
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
154-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12730697-Amino Acid Substitution,
pubmed-meshheading:12730697-Chromosomes, Human, Pair 1,
pubmed-meshheading:12730697-Female,
pubmed-meshheading:12730697-Genes, Dominant,
pubmed-meshheading:12730697-Genetic Linkage,
pubmed-meshheading:12730697-Humans,
pubmed-meshheading:12730697-Hyperlipoproteinemia Type II,
pubmed-meshheading:12730697-Liver,
pubmed-meshheading:12730697-Male,
pubmed-meshheading:12730697-Mutation,
pubmed-meshheading:12730697-Pedigree,
pubmed-meshheading:12730697-Serine Endopeptidases
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pubmed:year |
2003
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pubmed:articleTitle |
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
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pubmed:affiliation |
INSERM U383, Hôpital Necker-Enfants Malades, AP-HP, Université Paris V, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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