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Journal Abstract Search

102 related items for PubMed ID: 7999071

  • 1. A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion.
    Kobayashi J, Inadera H, Fujita Y, Talley G, Morisaki N, Yoshida S, Saito Y, Fojo SS, Brewer HB.
    Biochem Biophys Res Commun; 1994 Nov 30; 205(1):506-15. PubMed ID: 7999071
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  • 2. A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.
    Kobayashi J, Sasaki N, Tashiro J, Inadera H, Saito Y, Yoshida S.
    Biochem Biophys Res Commun; 1993 Mar 31; 191(3):1046-54. PubMed ID: 8096693
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  • 3. A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis.
    Yu XH, Zhao TQ, Wang L, Liu ZP, Zhang CM, Chen R, Li L, Liu G, Hu WC.
    Biochem Biophys Res Commun; 2006 Mar 03; 341(1):82-7. PubMed ID: 16431216
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  • 4. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
    Haubenwallner S, Hörl G, Shachter NS, Presta E, Fried SK, Höfler G, Kostner GM, Breslow JL, Zechner R.
    Genomics; 1993 Nov 03; 18(2):392-6. PubMed ID: 8288243
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  • 5. A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.
    Ginzinger DG, Lewis ME, Ma Y, Jones BR, Liu G, Jones SD.
    J Clin Invest; 1996 Mar 01; 97(5):1257-66. PubMed ID: 8636438
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  • 6. Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
    Takagi A, Ikeda Y, Tsutsumi Z, Shoji T, Yamamoto A.
    J Clin Invest; 1992 Feb 01; 89(2):581-91. PubMed ID: 1737848
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  • 9. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
    Ikeda Y, Goji K, Takagi A.
    Clin Sci (Lond); 2000 Dec 01; 99(6):569-78. PubMed ID: 11099402
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  • 13. Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis.
    Lo JY, Smith LC, Chan L.
    Biochem Biophys Res Commun; 1995 Jan 05; 206(1):266-71. PubMed ID: 7818530
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  • 15. Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online.
    Evans D, Wendt D, Ahle S, Guerra A, Beisiegel U.
    Hum Mutat; 1998 Jan 05; 12(3):217. PubMed ID: 10660334
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  • 16. Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.
    Ma Y, Liu MS, Chitayat D, Bruin T, Beisiegel U, Benlian P, Foubert L, De Gennes JL, Funke H, Forsythe I.
    Hum Mutat; 1994 Jan 05; 3(1):52-8. PubMed ID: 7906986
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  • 17. Lipoprotein lipase and hepatic lipase: the role of asparagine-linked glycosylation in the expression of a functional enzyme.
    Ben-Zeev O, Stahnke G, Liu G, Davis RC, Doolittle MH.
    J Lipid Res; 1994 Sep 05; 35(9):1511-23. PubMed ID: 7806965
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