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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2009-11-20
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pubmed:abstractText |
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the regulation of cholesterol homeostasis, increasing the low-density lipoprotein (LDL) receptor degradation. Our study aimed at exploring the pathogenic consequences in vivo and in vitro of a PCSK9 prodomain mutation found in a family with hypobetalipoproteinemia (FHBL).
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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 |
Dec
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pubmed:issn |
1524-4636
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pubmed:author |
pubmed-author:BelabbasKhaldiaK,
pubmed-author:BenlianPascaleP,
pubmed-author:BenoitIsabelleI,
pubmed-author:CariouBertrandB,
pubmed-author:ChétiveauxMaudM,
pubmed-author:CostetPhilippeP,
pubmed-author:Cruz-CaroFF,
pubmed-author:DufernezFabienneF,
pubmed-author:GayetConstanceC,
pubmed-author:GueroisRaphaelR,
pubmed-author:KourimateSanaeS,
pubmed-author:KrempfMichelM,
pubmed-author:LanghiCédricC,
pubmed-author:Le MayCédricC,
pubmed-author:OuguerramKhadijaK,
pubmed-author:TarugiPatriziaP
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pubmed:issnType |
Electronic
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2191-7
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pubmed:meshHeading |
pubmed-meshheading:19762784-Adult,
pubmed-meshheading:19762784-Amino Acid Substitution,
pubmed-meshheading:19762784-Apolipoproteins B,
pubmed-meshheading:19762784-Cholesterol, LDL,
pubmed-meshheading:19762784-Female,
pubmed-meshheading:19762784-Genes, Dominant,
pubmed-meshheading:19762784-Hepatocytes,
pubmed-meshheading:19762784-Heterozygote,
pubmed-meshheading:19762784-Humans,
pubmed-meshheading:19762784-Hypobetalipoproteinemia, Familial, Apolipoprotein B,
pubmed-meshheading:19762784-Hypobetalipoproteinemias,
pubmed-meshheading:19762784-Kinetics,
pubmed-meshheading:19762784-Male,
pubmed-meshheading:19762784-Middle Aged,
pubmed-meshheading:19762784-Mutation, Missense,
pubmed-meshheading:19762784-Pedigree,
pubmed-meshheading:19762784-Recombinant Proteins,
pubmed-meshheading:19762784-Serine Endopeptidases,
pubmed-meshheading:19762784-Transfection
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pubmed:year |
2009
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pubmed:articleTitle |
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.
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pubmed:affiliation |
INSERM, U915, Nantes F-44000, France.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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