Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

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Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote is …
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scholarly articleQ13442814

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P356DOI10.1086/507488
P932PMC publication ID1559532
P698PubMed publication ID16909389
P5875ResearchGate publication ID6878921

P50authorHelen HobbsQ21433424
Jonathan C. CohenQ24063837
Jay D HortonQ89378224
P2093author name stringZhenze Zhao
Lisa Kinch
Thomas A Lagace
Yetsa Tuakli-Wosornu
Nicholas V Grishin
P2860cites workThe secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiationQ24293346
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Crystal structure of fervidolysin from Fervidobacterium pennivorans, a keratinolytic enzyme related to subtilisinQ27642831
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemiaQ28202519
Wild-type PCSK9 inhibits LDL clearance but does not affect apoB-containing lipoprotein production in mouse and cultured cellsQ28585300
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Sequence variations in PCSK9, low LDL, and protection against coronary heart diseaseQ29616310
Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartmentQ33767310
The subtilisin/kexin family of precursor convertases. Emphasis on PC1, PC2/7B2, POMC and the novel enzyme SKI-1.Q33921616
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NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterolQ34347298
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.Q34385127
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.Q34399014
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemiaQ34403629
Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.Q38336252
Effect of mutations in the PCSK9 gene on the cell surface LDL receptorsQ40298570
Detecting distant homology with Meta-BASIC.Q41010576
Low density lipoprotein receptor-related protein mediates endocytosis of monoclonal antibodies in cultured cells and rabbit liver.Q41212549
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and traffickingQ44822080
Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapyQ46902329
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Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein BQ61971392
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)514-523
P577publication date2006-07-18
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMolecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote
P478volume79