Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G (2013)
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations
Nutr Metab Cardiovasc Dis 23: 732
Moennig G, Wiebusch H, Enbergs A, Dorszewski A, Kerber S, Schulte H, Vielhauer C, Haverkamp W, Assmann G, Breithardt G, Funke H (2000)
Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography
Atherosclerosis 149: 395
Knudsen P, Antikainen M, Uusi-Oukari M, Ehnholm S, Lahdenpera S, Bensadoun A, Funke H, Wiebusch H, Assmann G, Taskinen MR, Ehnholm C (1997)
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene
Atherosclerosis 128: 165
Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ (1996)
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency
Neth J Med 49: 189
Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G (1996)
A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease
J Lipid Res 37: 35
Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, Kastelein JJ (1996)
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)
J Clinical Investigation 98: 358
Muntoni S, Wiebusch H, Funke H, Seedorf U, Roskos M, Schulte H, Saku K, Arakawa K, Balestrieri A, Assmann G (1996)
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
Hum Genet 97: 265
Owen JS, Wiebusch H, Cullen P, Watts GF, Lima VL, Funke H, Assmann G (1996)
Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
Hum Mutat 8: 79
Wiebusch H, Muntoni S, Funke H, Lu F, Seedorf U, Oberle S, Schwarzer U, Assmann G (1996)
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD)
Clin Genet 50: 106
Wiebusch H, Funke H, Bruin T, Bucher H, von Eckardstein A, Kastelein JJ, Assmann G (1996)
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia
Hum Mutat 8: 381
Wiebusch H, Funke H, Santer R, Richter W, Assmann G (1996)
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia
Hum Mutat 8: 392
Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ (1995)
A unique genetic and biochemical presentation of fish-eye disease
J Clinical Investigation 96: 2783
Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G (1995)
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)
Hum Genet 95: 491
Seedorf U, Wiebusch H, Muntoni S, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G (1995)
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease
Arterioscler Thromb Vasc Biol 15: 773
Wiebusch H, Cullen P, Owen JS, Collins D, Sharp PS, Funke H, Assmann G (1995)
Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
Hum Mol Genet 4: 143
Ma Y, Liu MS, Chitayat D, Bruin T, Beisiegel U, Benlian P, Foubert L, De Gennes JL, Funke H, Forsythe I, Blaichman S, Papanikolaou M, Erkelens DW, Kastelein J, Brunzell JD, Hayden MR (1994)
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries
Hum Mutat 3: 52
Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B, Gerdes U, Faergeman O, Albers JJ, Colleoni N, Catapano A, Frohlich J, Assmann G (1993)
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
J Clinical Investigation 91: 677
Hayden MR, Kastelein JJ, Funke H, Brunzell JD, Ma Y (1993)
Phenotypic variation of mutations in the human lipoprotein-lipase gene
Biochemical Society Transactions 21: 506
Assmann G, von Eckardstein A, Funke H (1991)
Lecithin:cholesterol acyltransferase deficiency and fish eye disease.
Curr Opin Lipidol 2: 110
Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G (1991)
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
Proc Natl Acad Sci U S A 88: 4855
Paulweber B, Wiebusch H, Miesenboeck G, Funke H, Assmann G, Hoelzl B, Sippl MJ, Friedl W, Patsch JR, Sandhofer F (1991)
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia
Atherosclerosis 86: 239
Funke H, Reckwerth A, Stapenhorst D, Schulze Beiering M, Jansen M, Assmann G (1988)
Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL)
Nucleic Acids Research 16: 2741
Funke H, Klug J, Assmann G (1987)
Hind III RFLP in the lipoprotein lipase gene, (LPL)
Nucleic Acids Research 15: 9102