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Author Report for: Assmann G

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    Title: Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations
    Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H and Assmann G <1 more author(s)>
    Ref: Nutr Metab Cardiovasc Dis, 23:732, 2013 : PubMed

            

    Title: Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography
    Moennig G, Wiebusch H, Enbergs A, Dorszewski A, Kerber S, Schulte H, Vielhauer C, Haverkamp W, Assmann G and Funke H <1 more author(s)>
    Ref: Atherosclerosis, 149:395, 2000 : PubMed

            

    Title: Fatal genetic defect causing Wolman disease.
    Mayatepek E, Seedorf U, Wiebusch H, Lenhartz H, Assmann G
    Ref: J Inherit Metab Dis, 22:93, 1999 : PubMed

            

    Title: Cloning and sequencing of a novel murine liver carboxylesterase cDNA
    Ellinghaus P, Seedorf U, Assmann G
    Ref: Biochimica & Biophysica Acta, 1397:175, 1998 : PubMed

            

    Title: Modulated serum activities and concentrations of paraoxonase in high density lipoprotein deficiency states
    James RW, Blatter Garin MC, Calabresi L, Miccoli R, von Eckardstein A, Tilly-Kiesi M, Taskinen MR, Assmann G, Franceschini G
    Ref: Atherosclerosis, 139:77, 1998 : PubMed

            

    Title: Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene
    Knudsen P, Antikainen M, Uusi-Oukari M, Ehnholm S, Lahdenpera S, Bensadoun A, Funke H, Wiebusch H, Assmann G and Ehnholm C <1 more author(s)>
    Ref: Atherosclerosis, 128:165, 1997 : PubMed

            

    Title: Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency
    Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ
    Ref: Neth J Med, 49:189, 1996 : PubMed

            

    Title: A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease
    Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G
    Ref: J Lipid Res, 37:35, 1996 : PubMed

            

    Title: An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)
    Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, Kastelein JJ
    Ref: J Clinical Investigation, 98:358, 1996 : PubMed

            

    Title: A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations
    Muntoni S, Wiebusch H, Funke H, Seedorf U, Roskos M, Schulte H, Saku K, Arakawa K, Balestrieri A, Assmann G
    Ref: Hum Genet, 97:265, 1996 : PubMed

            

    Title: Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
    Owen JS, Wiebusch H, Cullen P, Watts GF, Lima VL, Funke H, Assmann G
    Ref: Hum Mutat, 8:79, 1996 : PubMed

            

    Title: A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD)
    Wiebusch H, Muntoni S, Funke H, Lu F, Seedorf U, Oberle S, Schwarzer U, Assmann G
    Ref: Clin Genet, 50:106, 1996 : PubMed

            

    Title: Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia
    Wiebusch H, Funke H, Bruin T, Bucher H, von Eckardstein A, Kastelein JJ, Assmann G
    Ref: Hum Mutat, 8:381, 1996 : PubMed

            

    Title: A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia
    Wiebusch H, Funke H, Santer R, Richter W, Assmann G
    Ref: Hum Mutat, 8:392, 1996 : PubMed

            

    Title: A unique genetic and biochemical presentation of fish-eye disease
    Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ
    Ref: J Clinical Investigation, 96:2783, 1995 : PubMed

            

    Title: Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
    Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G
    Ref: Hum Genet, 95:491, 1995 : PubMed

            

    Title: A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease
    Seedorf U, Wiebusch H, Muntoni S, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G
    Ref: Arterioscler Thromb Vasc Biol, 15:773, 1995 : PubMed

            

    Title: Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
    Wiebusch H, Cullen P, Owen JS, Collins D, Sharp PS, Funke H, Assmann G
    Ref: Hum Mol Genet, 4:143, 1995 : PubMed

            

    Title: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease
    Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B and Assmann G <6 more author(s)>
    Ref: J Clinical Investigation, 91:677, 1993 : PubMed

            

    Title: Lecithin:cholesterol acyltransferase deficiency and fish eye disease.
    Assmann G, von Eckardstein A, Funke H
    Ref: Curr Opin Lipidol, 2:110, 1991 : PubMed

            

    Title: A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity
    Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G
    Ref: Proc Natl Acad Sci U S A, 88:4855, 1991 : PubMed

            

    Title: Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia
    Paulweber B, Wiebusch H, Miesenboeck G, Funke H, Assmann G, Hoelzl B, Sippl MJ, Friedl W, Patsch JR, Sandhofer F
    Ref: Atherosclerosis, 86:239, 1991 : PubMed

            

    Title: Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL)
    Funke H, Reckwerth A, Stapenhorst D, Schulze Beiering M, Jansen M, Assmann G
    Ref: Nucleic Acids Research, 16:2741, 1988 : PubMed

            

    Title: Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease
    Carlson LA, Holmquist L, Assmann G
    Ref: Acta Med Scand, 222:345, 1987 : PubMed

            

    Title: Hind III RFLP in the lipoprotein lipase gene, (LPL)
    Funke H, Klug J, Assmann G
    Ref: Nucleic Acids Research, 15:9102, 1987 : PubMed

            


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