| Title : Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage - Lemarie_2023_Front.Physiol_14_1086112 |
| Author(s) : Lemarie FL , Sanders SS , Nguyen Y , Martin DDO , Hayden MR |
| Ref : Front Physiol , 14 :1086112 , 2023 |
| Abstract : |
| PubMedSearch : Lemarie_2023_Front.Physiol_14_1086112 |
| PubMedID: 36711022 |
| Title : Preclinical Development and Characterization of Novel Adeno-Associated Viral Vectors for the Treatment of Lipoprotein Lipase Deficiency - Mehta_2023_Hum.Gene.Ther__ |
| Author(s) : Mehta N , Gilbert R , Chahal PS , Moreno MJ , Nassoury N , Coulombe N , Lytvyn V , Mercier M , Fatehi D , Lin W , Harvey EM , Zhang LH , Moghaddam NN , Elahi SM , Ross CJD , Stanimirovic DB , Hayden MR |
| Ref : Hum Gene Therapy , : , 2023 |
| Abstract : |
| PubMedSearch : Mehta_2023_Hum.Gene.Ther__ |
| PubMedID: 37597209 |
| Gene_locus related to this paper: human-LPL |
| Title : The impact of partial and complete loss-of-function mutations in endothelial lipase on high-density lipoprotein levels and functionality in humans - Singaraja_2013_Circ.Cardiovasc.Genet_6_54 |
| Author(s) : Singaraja RR , Sivapalaratnam S , Hovingh K , Dube MP , Castro-Perez J , Collins HL , Adelman SJ , Riwanto M , Manz J , Hubbard B , Tietjen I , Wong K , Mitnaul LJ , van Heek M , Lin L , Roddy TA , McEwen J , Dallinge-Thie G , van Vark-van der Zee L , Verwoert G , Winther M , van Duijn C , Hofman A , Trip MD , Marais AD , Asztalos B , Landmesser U , Sijbrands E , Kastelein JJ , Hayden MR |
| Ref : Circ Cardiovasc Genet , 6 :54 , 2013 |
| Abstract : |
| PubMedSearch : Singaraja_2013_Circ.Cardiovasc.Genet_6_54 |
| PubMedID: 23243195 |
| Title : Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol - Tietjen_2012_PLoS.One_7_e37437 |
| Author(s) : Tietjen I , Hovingh GK , Singaraja RR , Radomski C , Barhdadi A , McEwen J , Chan E , Mattice M , Legendre A , Franchini PL , Dube MP , Kastelein JJ , Hayden MR |
| Ref : PLoS ONE , 7 :e37437 , 2012 |
| Abstract : |
| PubMedSearch : Tietjen_2012_PLoS.One_7_e37437 |
| PubMedID: 22952570 |
| Title : Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells - Wang_2009_Gut_58_422 |
| Author(s) : Wang Y , Sternfeld L , Yang F , Rodriguez JA , Ross C , Hayden MR , Carriere F , Liu G , Hofer W , Schulz I |
| Ref : Gut , 58 :422 , 2009 |
| Abstract : |
| PubMedSearch : Wang_2009_Gut_58_422 |
| PubMedID: 18936103 |
| Title : The role of free fatty acids, pancreatic lipase and Ca+ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice - Yang_2009_Acta.Physiol.(Oxf)_195_13 |
| Author(s) : Yang F , Wang Y , Sternfeld L , Rodriguez JA , Ross C , Hayden MR , Carriere F , Liu G , Schulz I |
| Ref : Acta Physiol (Oxf) , 195 :13 , 2009 |
| Abstract : |
| PubMedSearch : Yang_2009_Acta.Physiol.(Oxf)_195_13 |
| PubMedID: 18983441 |
| Title : Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet - Zhang_2008_Circ.Res_102_250 |
| Author(s) : Zhang X , Qi R , Xian X , Yang F , Blackstein M , Deng X , Fan J , Ross C , Karasinska J , Hayden MR , Liu G |
| Ref : Circulation Research , 102 :250 , 2008 |
| Abstract : |
| PubMedSearch : Zhang_2008_Circ.Res_102_250 |
| PubMedID: 18032735 |
| Title : Expression of LPL in endothelial-intact artery results in lipid deposition and vascular cell adhesion molecule-1 upregulation in both LPL and ApoE-deficient mice - Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_197 |
| Author(s) : Wang J , Xian X , Huang W , Chen L , Wu L , Zhu Y , Fan J , Ross C , Hayden MR , Liu G |
| Ref : Arterioscler Thromb Vasc Biol , 27 :197 , 2007 |
| Abstract : |
| PubMedSearch : Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_197 |
| PubMedID: 17038632 |
| Title : Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation - Ross_2006_Hum.Gene.Ther_17_487 |
| Author(s) : Ross CJ , Twisk J , Bakker AC , Miao F , Verbart D , Rip J , Godbey T , Dijkhuizen P , Hermens WT , Kastelein JJ , Kuivenhoven JA , Meulenberg JM , Hayden MR |
| Ref : Hum Gene Therapy , 17 :487 , 2006 |
| Abstract : |
| PubMedSearch : Ross_2006_Hum.Gene.Ther_17_487 |
| PubMedID: 16716106 |
| Title : Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia - Zhao_2006_Biochem.Biophys.Res.Commun_341_1066 |
| Author(s) : Zhao T , Guo J , Li H , Huang W , Xian X , Ross CJ , Hayden MR , Wen Z , Liu G |
| Ref : Biochemical & Biophysical Research Communications , 341 :1066 , 2006 |
| Abstract : |
| PubMedSearch : Zhao_2006_Biochem.Biophys.Res.Commun_341_1066 |
| PubMedID: 16460682 |
| Title : Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function - Yanai_2006_Nat.Neurosci_9_824 |
| Author(s) : Yanai A , Huang K , Kang R , Singaraja RR , Arstikaitis P , Gan L , Orban PC , Mullard A , Cowan CM , Raymond LA , Drisdel RC , Green WN , Ravikumar B , Rubinsztein DC , El-Husseini A , Hayden MR |
| Ref : Nat Neurosci , 9 :824 , 2006 |
| Abstract : |
| PubMedSearch : Yanai_2006_Nat.Neurosci_9_824 |
| PubMedID: 16699508 |
| Title : Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation - Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_1236 |
| Author(s) : Rip J , Nierman MC , Ross CJ , Jukema JW , Hayden MR , Kastelein JJ , Stroes ES , Kuivenhoven JA |
| Ref : Arterioscler Thromb Vasc Biol , 26 :1236 , 2006 |
| Abstract : |
| PubMedSearch : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_1236 |
| PubMedID: 16574898 |
| Title : Gene therapy for lipoprotein lipase deficiency: working toward clinical application - Rip_2005_Hum.Gene.Ther_16_1276 |
| Author(s) : Rip J , Nierman MC , Sierts JA , Petersen W , Van den Oever K , Van Raalte D , Ross CJ , Hayden MR , Bakker AC , Dijkhuizen P , Hermens WT , Twisk J , Stroes E , Kastelein JJ , Kuivenhoven JA , Meulenberg JM |
| Ref : Hum Gene Therapy , 16 :1276 , 2005 |
| Abstract : |
| PubMedSearch : Rip_2005_Hum.Gene.Ther_16_1276 |
| PubMedID: 16259561 |
| Title : Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation - Ross_2005_Arterioscler.Thromb.Vasc.Biol_25_2143 |
| Author(s) : Ross CJ , Liu G , Kuivenhoven JA , Twisk J , Rip J , van Dop W , Excoffon KJ , Lewis SM , Kastelein JJ , Hayden MR |
| Ref : Arterioscler Thromb Vasc Biol , 25 :2143 , 2005 |
| Abstract : |
| PubMedSearch : Ross_2005_Arterioscler.Thromb.Vasc.Biol_25_2143 |
| PubMedID: 16002740 |
| Title : Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene - Peterson_2002_J.Lipid.Res_43_398 |
| Author(s) : Peterson J , Ayyobi AF , Ma Y , Henderson H , Reina M , Deeb SS , Santamarina-Fojo S , Hayden MR , Brunzell JD |
| Ref : J Lipid Res , 43 :398 , 2002 |
| Abstract : |
| PubMedSearch : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedID: 11893776 |
| Gene_locus related to this paper: human-LPL |
| Title : The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease - Clee_2001_Clin.Genet_60_293 |
| Author(s) : Clee SM , Loubser O , Collins J , Kastelein JJ , Hayden MR |
| Ref : Clin Genet , 60 :293 , 2001 |
| Abstract : |
| PubMedSearch : Clee_2001_Clin.Genet_60_293 |
| PubMedID: 11683775 |
| Gene_locus related to this paper: human-LPL |
| Title : Plasma and vessel wall lipoprotein lipase have different roles in atherosclerosis - Clee_2000_J.Lipid.Res_41_521 |
| Author(s) : Clee SM , Bissada N , Miao F , Miao L , Marais AD , Henderson HE , Steures P , McManus J , McManus B , LeBoeuf RC , Kastelein JJ , Hayden MR |
| Ref : J Lipid Res , 41 :521 , 2000 |
| Abstract : |
| PubMedSearch : Clee_2000_J.Lipid.Res_41_521 |
| PubMedID: 10744772 |
| Title : A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study - Gagne_1999_Clin.Genet_55_450 |
| Author(s) : Gagne SE , Larson MG , Pimstone SN , Schaefer EJ , Kastelein JJ , Wilson PW , Ordovas JM , Hayden MR |
| Ref : Clin Genet , 55 :450 , 1999 |
| Abstract : |
| PubMedSearch : Gagne_1999_Clin.Genet_55_450 |
| PubMedID: 10450862 |
| Title : Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins - Henderson_1999_J.Lipid.Res_40_735 |
| Author(s) : Henderson HE , Kastelein JJ , Zwinderman AH , Gagne E , Jukema JW , Reymer PW , Groenemeyer BE , Lie KI , Bruschke AV , Hayden MR , Jansen H |
| Ref : J Lipid Res , 40 :735 , 1999 |
| Abstract : |
| PubMedSearch : Henderson_1999_J.Lipid.Res_40_735 |
| PubMedID: 10191298 |
| Title : Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women - Kastelein_1999_Clin.Genet_56_297 |
| Author(s) : Kastelein JJ , Ordovas JM , Wittekoek ME , Pimstone SN , Wilson WF , Gagne SE , Larson MG , Schaefer EJ , Boer JM , Gerdes C , Hayden MR |
| Ref : Clin Genet , 56 :297 , 1999 |
| Abstract : |
| PubMedSearch : Kastelein_1999_Clin.Genet_56_297 |
| PubMedID: 10636448 |
| Title : The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group - Kastelein_1998_Clin.Genet_53_27 |
| Author(s) : Kastelein JJ , Groenemeyer BE , Hallman DM , Henderson H , Reymer PW , Gagne SE , Jansen H , Seidell JC , Kromhout D , Jukema JW , Bruschke AV , Boerwinkle E , Hayden MR |
| Ref : Clin Genet , 53 :27 , 1998 |
| Abstract : |
| PubMedSearch : Kastelein_1998_Clin.Genet_53_27 |
| PubMedID: 9550358 |
| Title : Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia - |
| Author(s) : Foubert L , De Gennes JL , Benlian P , Truffert J , Miao L , Hayden MR |
| Ref : Hum Mutat , Suppl 1 :S141 , 1998 |
| PubMedID: 9452069 |
| Title : Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event - Henderson_1998_Am.J.Med.Genet_78_313 |
| Author(s) : Henderson HE , Bijvoet SM , Mannens MA , Bruin T , Erkelens DW , Hayden MR , Kastelein JJ |
| Ref : American Journal of Medicine Genet , 78 :313 , 1998 |
| Abstract : |
| PubMedSearch : Henderson_1998_Am.J.Med.Genet_78_313 |
| PubMedID: 9714430 |
| Title : Assessment of French patients with LPL deficiency for French Canadian mutations - Foubert_1997_J.Med.Genet_34_672 |
| Author(s) : Foubert L , De Gennes JL , Lagarde JP , Ehrenborg E , Raisonnier A , Girardet JP , Hayden MR , Benlian P |
| Ref : Journal of Medical Genetics , 34 :672 , 1997 |
| Abstract : |
| PubMedSearch : Foubert_1997_J.Med.Genet_34_672 |
| PubMedID: 9279761 |
| Title : Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group - Groenemeijer_1997_Circulation_95_2628 |
| Author(s) : Groenemeijer BE , Hallman MD , Reymer PW , Gagne E , Kuivenhoven JA , Bruin T , Jansen H , Lie KI , Bruschke AV , Boerwinkle E , Hayden MR , Kastelein JJ |
| Ref : Circulation , 95 :2628 , 1997 |
| Abstract : |
| PubMedSearch : Groenemeijer_1997_Circulation_95_2628 |
| PubMedID: 9193431 |
| Title : Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency - Bijvoet_1996_J.Lipid.Res_37_640 |
| Author(s) : Bijvoet S , Gagne SE , Moorjani S , Gagne C , Henderson HE , Fruchart JC , Dallongeville J , Alaupovic P , Prins M , Kastelein JJ , Hayden MR |
| Ref : J Lipid Res , 37 :640 , 1996 |
| Abstract : |
| PubMedSearch : Bijvoet_1996_J.Lipid.Res_37_640 |
| PubMedID: 8728325 |
| Title : A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase - Henderson_1996_Biochem.Biophys.Res.Commun_227_189 |
| Author(s) : Henderson HE , Hassan F , Marais D , Hayden MR |
| Ref : Biochemical & Biophysical Research Communications , 227 :189 , 1996 |
| Abstract : |
| PubMedSearch : Henderson_1996_Biochem.Biophys.Res.Commun_227_189 |
| PubMedID: 8858123 |
| 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 : |
| PubMedSearch : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedID: 8973094 |
| Title : Structural features in lipoprotein lipase necessary for the mediation of lipoprotein uptake into cells - Krapp_1995_J.Lipid.Res_36_2362 |
| Author(s) : Krapp A , Zhang H , Ginzinger D , Liu MS , Lindberg A , Olivecrona G , Hayden MR , Beisiegel U |
| Ref : J Lipid Res , 36 :2362 , 1995 |
| Abstract : |
| PubMedSearch : Krapp_1995_J.Lipid.Res_36_2362 |
| PubMedID: 8656074 |
| Title : Retroviral-mediated gene transfer and expression of human lipoprotein lipase in somatic cells - Lewis_1995_Hum.Gene.Ther_6_853 |
| Author(s) : Lewis ME , Forsythe IJ , Marth JD , Brunzell JD , Hayden MR , Humphries RK |
| Ref : Hum Gene Therapy , 6 :853 , 1995 |
| Abstract : |
| PubMedSearch : Lewis_1995_Hum.Gene.Ther_6_853 |
| PubMedID: 7578404 |
| Title : Patients with apoE3 deficiency (E2\/2, E3\/2, and E4\/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->\;Ser mutation in the human LPL gene - Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| Author(s) : Zhang H , Reymer PW , Liu MS , Forsythe IJ , Groenemeyer BE , Frohlich J , Brunzell JD , Kastelein JJ , Hayden MR , Ma Y |
| Ref : Arterioscler Thromb Vasc Biol , 15 :1695 , 1995 |
| Abstract : |
| PubMedSearch : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| PubMedID: 7583546 |
| Title : High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform - Ma_1994_J.Lipid.Res_35_1066 |
| Author(s) : Ma Y , Ooi TC , Liu MS , Zhang H , McPherson R , Edwards AL , Forsythe IJ , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 35 :1066 , 1994 |
| Abstract : |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedID: 8077845 |
| 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 : |
| PubMedSearch : Ma_1994_Hum.Mutat_3_52 |
| PubMedID: 7906986 |
| Title : A compound heterozygote for lipoprotein lipase deficiency, Val69-->\;Leu and Gly188-->\;Glu: correlation between in vitro LPL activity and clinical expression - Bruin_1994_J.Lipid.Res_35_438 |
| Author(s) : Bruin T , Tuzgol S , Mulder WJ , van den Ende AE , Jansen H , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 35 :438 , 1994 |
| Abstract : |
| PubMedSearch : Bruin_1994_J.Lipid.Res_35_438 |
| PubMedID: 7912254 |
| Title : Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent - Bijvoet_1994_Hum.Genet_93_339 |
| Author(s) : Bijvoet SM , Bruin T , Tuzgol S , Bakker HD , Hayden MR , Kastelein JJ |
| Ref : Hum Genet , 93 :339 , 1994 |
| Abstract : |
| PubMedSearch : Bijvoet_1994_Hum.Genet_93_339 |
| PubMedID: 8125488 |
| Title : Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia - Gagne_1994_Arterioscler.Thromb_14_1250 |
| Author(s) : Gagne E , Genest J, Jr. , Zhang H , Clarke LA , Hayden MR |
| Ref : Arterioscler Thromb , 14 :1250 , 1994 |
| Abstract : |
| PubMedSearch : Gagne_1994_Arterioscler.Thromb_14_1250 |
| PubMedID: 8049185 |
| Title : Mutagenesis in four candidate heparin binding regions (residues 279-282, 291-304, 390-393, and 439-448) and identification of residues affecting heparin binding of human lipoprotein lipase - Ma_1994_J.Lipid.Res_35_2049 |
| Author(s) : Ma Y , Henderson HE , Liu MS , Zhang H , Forsythe IJ , Clarke-Lewis I , Hayden MR , Brunzell JD |
| Ref : J Lipid Res , 35 :2049 , 1994 |
| Abstract : |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_2049 |
| PubMedID: 7868983 |
| Gene_locus related to this paper: human-LPL |
| Title : A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia - |
| Author(s) : Ma Y , Liu MS , Zhang H , Forsythe IJ , Brunzell JD , Hayden MR |
| Ref : Hum Mol Genet , 2 :1049 , 1993 |
| PubMedID: 8364543 |
| Title : Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase - Bruin_1993_J.Lipid.Res_34_2109 |
| Author(s) : Bruin T , Tuzgol S , Van Diermen DE , Hoogerbrugge-van der Linden N , Brunzell JD , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 34 :2109 , 1993 |
| Abstract : |
| PubMedSearch : Bruin_1993_J.Lipid.Res_34_2109 |
| PubMedID: 8301230 |
| Gene_locus related to this paper: human-LPL |
| 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 : |
| PubMedSearch : Hayden_1993_Biochem.Soc.Trans_21_506 |
| PubMedID: 8359520 |
| Title : Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region - Henderson_1993_J.Lipid.Res_34_1593 |
| Author(s) : Henderson HE , Ma Y , Liu MS , Clark-Lewis I , Maeder DL , Kastelein JJ , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 34 :1593 , 1993 |
| Abstract : |
| PubMedSearch : Henderson_1993_J.Lipid.Res_34_1593 |
| PubMedID: 8228642 |
| 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 : |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency - Zambon_1993_Lancet_341_1119 |
| Author(s) : Zambon A , Torres A , Bijvoet S , Gagne C , Moorjani S , Lupien PJ , Hayden MR , Brunzell JD |
| Ref : Lancet , 341 :1119 , 1993 |
| Abstract : |
| PubMedSearch : Zambon_1993_Lancet_341_1119 |
| PubMedID: 8097805 |
| Title : Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene - Ma_1993_J.Clin.Invest_91_1953 |
| Author(s) : Ma Y , Liu MS , Ginzinger D , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Clinical Investigation , 91 :1953 , 1993 |
| Abstract : |
| PubMedSearch : Ma_1993_J.Clin.Invest_91_1953 |
| PubMedID: 8486765 |
| Gene_locus related to this paper: human-LPL |
| Title : Mismatch PCR: a rapid method to screen for the Pro207-->Leu mutation in the lipoprotein lipase (LPL) gene - |
| Author(s) : Bijvoet SM , Hayden MR |
| Ref : Hum Mol Genet , 1 :541 , 1992 |
| PubMedID: 1307255 |
| Title : The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency - Henderson_1992_J.Med.Genet_29_119 |
| Author(s) : Henderson HE , Hassan F , Berger GM , Hayden MR |
| Ref : Journal of Medical Genetics , 29 :119 , 1992 |
| Abstract : |
| PubMedSearch : Henderson_1992_J.Med.Genet_29_119 |
| PubMedID: 1351946 |
| Title : Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec - Bergeron_1992_Clin.Genet_41_206 |
| Author(s) : Bergeron J , Normand T , Bharucha A , Ven Murthy MR , Julien P , Gagne C , Dionne C , De Braekeleer M , Brun D , Hayden MR , Luplen PJ |
| Ref : Clin Genet , 41 :206 , 1992 |
| Abstract : |
| PubMedSearch : Bergeron_1992_Clin.Genet_41_206 |
| PubMedID: 1576758 |
| Gene_locus related to this paper: human-LPL |
| Title : Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis - Ma_1992_J.Biol.Chem_267_1918 |
| Author(s) : Ma YH , Bruin T , Tuzgol S , Wilson BI , Roederer G , Liu MS , Davignon J , Kastelein JJ , Brunzell JD , Hayden MR |
| Ref : Journal of Biological Chemistry , 267 :1918 , 1992 |
| Abstract : |
| PubMedSearch : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedID: 1730727 |
| Gene_locus related to this paper: human-LPL |
| Title : Mapping of the epitope on lipoprotein lipase recognized by a monoclonal antibody (5D2) which inhibits lipase activity - Liu_1992_Biochim.Biophys.Acta_1128_113 |
| Author(s) : Liu MS , Ma Y , Hayden MR , Brunzell JD |
| Ref : Biochimica & Biophysica Acta , 1128 :113 , 1992 |
| Abstract : |
| PubMedSearch : Liu_1992_Biochim.Biophys.Acta_1128_113 |
| PubMedID: 1382603 |
| Title : A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma_1992_Genomics_13_649 |
| Author(s) : Ma Y , Wilson BI , Bijvoet S , Henderson HE , Cramb E , Roederer G , Ven Murthy MR , Julien P , Bakker HD , Kastelein JJ , Brunzel JD , Hayden MR |
| Ref : Genomics , 13 :649 , 1992 |
| Abstract : |
| PubMedSearch : Ma_1992_Genomics_13_649 |
| PubMedID: 1639392 |
| Gene_locus related to this paper: human-LPL |
| Title : Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec - Normand_1992_Hum.Genet_89_671 |
| Author(s) : Normand T , Bergeron J , Fernandez-Margallo T , Bharucha A , Ven Murthy MR , Julien P , Gagne C , Dionne C , De Braekeleer M , Ma R , Hayden MR , Lupien PJ |
| Ref : Hum Genet , 89 :671 , 1992 |
| Abstract : |
| PubMedSearch : Normand_1992_Hum.Genet_89_671 |
| PubMedID: 1511985 |
| Title : A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity - Bruin_1992_Eur.J.Biochem_208_267 |
| Author(s) : Bruin T , Kastelein JJ , Van Diermen DE , Ma Y , Henderson HE , Stuyt PM , Stalenhoef AF , Sturk A , Brunzell JD , Hayden MR |
| Ref : European Journal of Biochemistry , 208 :267 , 1992 |
| Abstract : |
| PubMedSearch : Bruin_1992_Eur.J.Biochem_208_267 |
| PubMedID: 1521525 |
| Gene_locus related to this paper: human-LPL |
| Title : Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin - Henderson_1991_J.Clin.Invest_87_2005 |
| Author(s) : Henderson HE , Ma Y , Hassan MF , Monsalve MV , Marais AD , Winkler F , Gubernator K , Peterson J , Brunzell JD , Hayden MR |
| Ref : J Clinical Investigation , 87 :2005 , 1991 |
| Abstract : |
| PubMedSearch : Henderson_1991_J.Clin.Invest_87_2005 |
| PubMedID: 1674945 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification of the molecular defects underlying chylomicronemia in the majority of 75 separate probands with LPL deficiency. (Abstract) - |
| Author(s) : Henderson H , Ma Y , Kastelein J , Roederer G , Julien P , Brunzell J , Hayden MR |
| Ref : Clin Res , 39 :336A , 1991 |
| PubMedID: |
| Title : Characterization of a lipoprotein lipase class III type defect in hypertriglyceridemic cats - Peritz_1990_Clin.Invest.Med_13_259 |
| Author(s) : Peritz LN , Brunzell JD , Harvey-Clarke C , Pritchard PH , Jones BR , Hayden MR |
| Ref : Clinical Investigation Med , 13 :259 , 1990 |
| Abstract : |
| PubMedSearch : Peritz_1990_Clin.Invest.Med_13_259 |
| PubMedID: 2276220 |
| Title : Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency - Henderson_1990_Mol.Biol.Med_7_511 |
| Author(s) : Henderson HE , Devlin R , Peterson J , Brunzell JD , Hayden MR |
| Ref : Mol Biol Med , 7 :511 , 1990 |
| Abstract : |
| PubMedSearch : Henderson_1990_Mol.Biol.Med_7_511 |
| PubMedID: 2077351 |
| Gene_locus related to this paper: human-LPL |
| Title : Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency - Devlin_1990_Am.J.Hum.Genet_46_112 |
| Author(s) : Devlin RH , Deeb S , Brunzell J , Hayden MR |
| Ref : American Journal of Human Genetics , 46 :112 , 1990 |
| Abstract : |
| PubMedSearch : Devlin_1990_Am.J.Hum.Genet_46_112 |
| PubMedID: 2294743 |
| Gene_locus related to this paper: human-LPL |
| Title : A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency - Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| Author(s) : Langlois S , Deeb S , Brunzell JD , Kastelein JJ , Hayden MR |
| Ref : Proc Natl Acad Sci U S A , 86 :948 , 1989 |
| Abstract : |
| PubMedSearch : Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| PubMedID: 2536938 |
| Title : The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency. (Abstract) - Devlin_1989_Am.J.Hum.Genet_45_A4 |
| Author(s) : Devlin R , Henderson H , Monsalve V , Brunzell J , Deeb S , Hayden MR |
| Ref : American Journal of Human Genetics , 45 (suppl.) :A4 , 1989 |
| Abstract : |
| PubMedSearch : Devlin_1989_Am.J.Hum.Genet_45_A4 |
| PubMedID: |
| Title : Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH) - Langlois_1988_Am.J.Hum.Genet_43_60 |
| Author(s) : Langlois S , Deeb S , Brunzell J , Kastelein JJ , Hayden MR |
| Ref : American Journal of Human Genetics , 43 :60 , 1988 |
| Abstract : |
| PubMedSearch : Langlois_1988_Am.J.Hum.Genet_43_60 |
| PubMedID: 2837085 |
| Title : A unique insertion accounts for a significant proportion of the mutations in the lipoprotein lipase (LPL) gene. (Abstract) - Langlois_1988_Am.J.Hum.Genet_43_A191 |
| Author(s) : Langlois S , Deeb S , Brunzell J , Kastelein JJ , Hayden MR |
| Ref : American Journal of Human Genetics , 43 :A191 , 1988 |
| Abstract : |
| PubMedSearch : Langlois_1988_Am.J.Hum.Genet_43_A191 |
| PubMedID: |
| Title : Primary lipoprotein lipase deficiency - Brunzell_1986_Adv.Exp.Med.Biol_201_227 |
| Author(s) : Brunzell JD , Iverius PH , Scheibel MS , Fujimoto WY , Hayden MR , McLeod R , Frolich J |
| Ref : Advances in Experimental Medicine & Biology , 201 :227 , 1986 |
| Abstract : |
| PubMedSearch : Brunzell_1986_Adv.Exp.Med.Biol_201_227 |
| PubMedID: 3541517 |