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| Title : Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations - Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| Author(s) : Muntoni S , Wiebusch H , Jansen-Rust M , Rust S , Schulte H , Berger K , Pisciotta L , Bertolini S , Funke H , Seedorf U , Assmann G |
| Ref : Nutr Metab Cardiovasc Dis , 23 :732 , 2013 |
| Abstract : Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| ESTHER : Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| PubMedSearch : Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| PubMedID: 22795295 |
| Gene_locus related to this paper: human-LIPA |
| Title : Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography - Moennig_2000_Atherosclerosis_149_395 |
| Author(s) : Moennig G , Wiebusch H , Enbergs A , Dorszewski A , Kerber S , Schulte H , Vielhauer C , Haverkamp W , Assmann G , Breithardt G , Funke H |
| Ref : Atherosclerosis , 149 :395 , 2000 |
| Abstract : Moennig_2000_Atherosclerosis_149_395 |
| ESTHER : Moennig_2000_Atherosclerosis_149_395 |
| PubMedSearch : Moennig_2000_Atherosclerosis_149_395 |
| PubMedID: 10729390 |
| Title : Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene - Knudsen_1997_Atherosclerosis_128_165 |
| Author(s) : Knudsen P , Antikainen M , Uusi-Oukari M , Ehnholm S , Lahdenpera S , Bensadoun A , Funke H , Wiebusch H , Assmann G , Taskinen MR , Ehnholm C |
| Ref : Atherosclerosis , 128 :165 , 1997 |
| Abstract : Knudsen_1997_Atherosclerosis_128_165 |
| ESTHER : Knudsen_1997_Atherosclerosis_128_165 |
| PubMedSearch : Knudsen_1997_Atherosclerosis_128_165 |
| PubMedID: 9050773 |
| Gene_locus related to this paper: human-LIPC |
| 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_1996_Hum.Genet_97_265 |
| Author(s) : 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 |
| Abstract : Muntoni_1996_Hum.Genet_97_265 |
| ESTHER : Muntoni_1996_Hum.Genet_97_265 |
| PubMedSearch : Muntoni_1996_Hum.Genet_97_265 |
| PubMedID: 8566968 |
| 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_1996_Neth.J.Med_49_189 |
| Author(s) : 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 |
| Abstract : Bijvoet_1996_Neth.J.Med_49_189 |
| ESTHER : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedSearch : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedID: 8973094 |
| Title : A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease - Contacos_1996_J.Lipid.Res_37_35 |
| Author(s) : Contacos C , Sullivan DR , Rye KA , Funke H , Assmann G |
| Ref : J Lipid Res , 37 :35 , 1996 |
| Abstract : Contacos_1996_J.Lipid.Res_37_35 |
| ESTHER : Contacos_1996_J.Lipid.Res_37_35 |
| PubMedSearch : Contacos_1996_J.Lipid.Res_37_35 |
| PubMedID: 8820100 |
| 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) - |
| Author(s) : Wiebusch H , Muntoni S , Funke H , Lu F , Seedorf U , Oberle S , Schwarzer U , Assmann G |
| Ref : Clin Genet , 50 :106 , 1996 |
| PubMedID: 8937772 |
| Title : Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia - |
| Author(s) : Wiebusch H , Funke H , Bruin T , Bucher H , von Eckardstein A , Kastelein JJ , Assmann G |
| Ref : Hum Mutat , 8 :381 , 1996 |
| PubMedID: 8956048 |
| Gene_locus related to this paper: human-LPL |
| Title : An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease) - Kuivenhoven_1996_J.Clin.Invest_98_358 |
| Author(s) : Kuivenhoven JA , Weibusch H , Pritchard PH , Funke H , Benne R , Assmann G , Kastelein JJ |
| Ref : J Clinical Investigation , 98 :358 , 1996 |
| Abstract : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| ESTHER : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedID: 8755645 |
| 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_1995_Hum.Genet_95_491 |
| Author(s) : Muntoni S , Wiebusch H , Funke H , Ros E , Seedorf U , Assmann G |
| Ref : Hum Genet , 95 :491 , 1995 |
| Abstract : Muntoni_1995_Hum.Genet_95_491 |
| ESTHER : Muntoni_1995_Hum.Genet_95_491 |
| PubMedSearch : Muntoni_1995_Hum.Genet_95_491 |
| PubMedID: 7759067 |
| Title : Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene - |
| Author(s) : Wiebusch H , Cullen P , Owen JS , Collins D , Sharp PS , Funke H , Assmann G |
| Ref : Hum Mol Genet , 4 :143 , 1995 |
| PubMedID: 7711728 |
| Gene_locus related to this paper: human-LCAT |
| Title : A novel variant of lysosomal acid lipase (Leu336-->\;Pro) associated with acid lipase deficiency and cholesterol ester storage disease - Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| Author(s) : 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 |
| Abstract : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| ESTHER : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| PubMedSearch : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| PubMedID: 7773732 |
| Gene_locus related to this paper: human-LIPA |
| Title : A unique genetic and biochemical presentation of fish-eye disease - Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| Author(s) : 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 |
| Abstract : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| ESTHER : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedSearch : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedID: 8675648 |
| Title : Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries - Ma_1994_Hum.Mutat_3_52 |
| Author(s) : 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 |
| Ref : Hum Mutat , 3 :52 , 1994 |
| Abstract : Ma_1994_Hum.Mutat_3_52 |
| ESTHER : Ma_1994_Hum.Mutat_3_52 |
| PubMedSearch : Ma_1994_Hum.Mutat_3_52 |
| PubMedID: 7906986 |
| 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_1993_J.Clin.Invest_91_677 |
| Author(s) : 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 |
| Ref : J Clinical Investigation , 91 :677 , 1993 |
| Abstract : Funke_1993_J.Clin.Invest_91_677 |
| ESTHER : Funke_1993_J.Clin.Invest_91_677 |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Phenotypic variation of mutations in the human lipoprotein-lipase gene - Hayden_1993_Biochem.Soc.Trans_21_506 |
| Author(s) : Hayden MR , Kastelein JJ , Funke H , Brunzell JD , Ma Y |
| Ref : Biochemical Society Transactions , 21 :506 , 1993 |
| Abstract : Hayden_1993_Biochem.Soc.Trans_21_506 |
| ESTHER : Hayden_1993_Biochem.Soc.Trans_21_506 |
| PubMedSearch : Hayden_1993_Biochem.Soc.Trans_21_506 |
| PubMedID: 8359520 |
| Title : Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia - Paulweber_1991_Atherosclerosis_86_239 |
| Author(s) : 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 |
| Abstract : Paulweber_1991_Atherosclerosis_86_239 |
| ESTHER : Paulweber_1991_Atherosclerosis_86_239 |
| PubMedSearch : Paulweber_1991_Atherosclerosis_86_239 |
| PubMedID: 1872917 |
| 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_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| Author(s) : 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 |
| Abstract : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| ESTHER : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedSearch : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedID: 2052566 |
| Title : Lecithin:cholesterol acyltransferase deficiency and fish eye disease. - Assmann_1991_Curr.Opin.Lipidol_2_110 |
| Author(s) : Assmann G , von Eckardstein A , Funke H |
| Ref : Curr Opin Lipidol , 2 :110 , 1991 |
| Abstract : Assmann_1991_Curr.Opin.Lipidol_2_110 |
| ESTHER : Assmann_1991_Curr.Opin.Lipidol_2_110 |
| PubMedSearch : Assmann_1991_Curr.Opin.Lipidol_2_110 |
| PubMedID: |
| Title : Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL) - |
| Author(s) : Funke H , Reckwerth A , Stapenhorst D , Schulze Beiering M , Jansen M , Assmann G |
| Ref : Nucleic Acids Research , 16 :2741 , 1988 |
| PubMedID: 2896338 |