Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.P234L Pro234L CCG->CTG (P207L Pro207Leu in the mature protein which do not count signal peptide) rs118204060. Mutation in exon5. Exon 5 is also the region with the strongest homology to pancreatic and hepatic lipase and is conserved in LPL from different species. Found also in compound heterozygote with the mutation G251E
| Title : High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency - Tani_2016_Atherosclerosis_253_7 |
| Author(s) : Tani M , Horvath KV , Lamarche B , Couture P , Burnett JR , Schaefer EJ , Asztalos BF |
| Ref : Atherosclerosis , 253 :7 , 2016 |
| Abstract : |
| PubMedSearch : Tani_2016_Atherosclerosis_253_7 |
| PubMedID: 27573733 |
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency - Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| Author(s) : Martin-Campos JM , Julve J , Roig R , Martinez S , Errico TL , Martinez-Couselo S , Escola-Gil JC , Mendez-Gonzalez J , Blanco-Vaca F |
| Ref : Clinica Chimica Acta , 429 :61 , 2014 |
| Abstract : |
| PubMedSearch : Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| PubMedID: 24291057 |
| Gene_locus related to this paper: human-LPL |
| Title : Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations - Ooi_2012_Arterioscler.Thromb.Vasc.Biol_32_459 |
| Author(s) : Ooi EM , Russell BS , Olson E , Sun SZ , Diffenderfer MR , Lichtenstein AH , Keilson L , Barrett PH , Schaefer EJ , Sprecher DL |
| Ref : Arterioscler Thromb Vasc Biol , 32 :459 , 2012 |
| Abstract : |
| PubMedSearch : Ooi_2012_Arterioscler.Thromb.Vasc.Biol_32_459 |
| PubMedID: 22095987 |
| Title : Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels - Paglialunga_2009_J.Lipid.Res_50_1109 |
| Author(s) : Paglialunga S , Julien P , Tahiri Y , Cadelis F , Bergeron J , Gaudet D , Cianflone K |
| Ref : J Lipid Res , 50 :1109 , 2009 |
| Abstract : |
| PubMedSearch : Paglialunga_2009_J.Lipid.Res_50_1109 |
| PubMedID: 19237736 |
| Gene_locus related to this paper: human-LPL |
| Title : Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650) - Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| Author(s) : Wang J , Cao H , Ban MR , Kennedy BA , Zhu S , Anand S , Yusuf S , Pollex RL , Hegele RA |
| Ref : Arterioscler Thromb Vasc Biol , 27 :2450 , 2007 |
| Abstract : |
| PubMedSearch : Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| PubMedID: 17717288 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetics of the lipoprotein lipase gene and hypertriglyceridaemia - McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| Author(s) : McDonnell MG , Young IS , Nicholls DP , Archbold GP , Graham CA |
| Ref : Br J Biomed Sci , 60 :84 , 2003 |
| Abstract : |
| PubMedSearch : McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| PubMedID: 12866915 |
| Title : Effect of obesity on HDL and LDL particle sizes in carriers of the null P207L or defective D9N mutation in the lipoprotein lipase gene: the Quebec LipD Study - Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631 |
| Author(s) : Ruel IL , Gaudet D , Perron P , Bergeron J , Julien P , Lamarche B |
| Ref : Int J Obes Relat Metab Disord , 27 :631 , 2003 |
| Abstract : |
| PubMedSearch : Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631 |
| PubMedID: 12704407 |
| Title : Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients - Brisson_2002_Pharmacogenet_12_313 |
| Author(s) : Brisson D , Ledoux K , Bosse Y , St-Pierre J , Julien P , Perron P , Hudson TJ , Vohl MC , Gaudet D |
| Ref : Pharmacogenetics , 12 :313 , 2002 |
| Abstract : |
| PubMedSearch : Brisson_2002_Pharmacogenet_12_313 |
| PubMedID: 12042669 |
| 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 : 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 : Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies - Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| Author(s) : Hokanson JE |
| Ref : Int J Clin Lab Res , 27 :24 , 1997 |
| Abstract : |
| PubMedSearch : Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| PubMedID: 9144024 |
| Title : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465 |
| Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ |
| Ref : Hum Mutat , 10 :465 , 1997 |
| Abstract : |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |
| 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 : 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 : 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 mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians - Ma_1991_N.Engl.J.Med_324_1761 |
| Author(s) : Ma Y , Henderson HE , Murthy V , Roederer G , Monsalve MV , Clarke LA , Normand T , Julien P , Gagne C , Lambert M , et al. |
| Ref : N Engl J Med , 324 :1761 , 1991 |
| Abstract : |
| PubMedSearch : Ma_1991_N.Engl.J.Med_324_1761 |
| PubMedID: 2038366 |
| Gene_locus related to this paper: human-LPL |