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 :
c.1019-3C > A intron 6 splice site mutation C>A in position 3 at the acceptor splice site of intron 6
| Title : Deciphering the role of V200A and N291S mutations leading to LPL deficiency - Botta_2019_Atherosclerosis_282_45 |
| Author(s) : Botta M , Maurer E , Ruscica M , Romeo S , Stulnig TM , Pingitore P |
| Ref : Atherosclerosis , 282 :45 , 2019 |
| Abstract : |
| PubMedSearch : Botta_2019_Atherosclerosis_282_45 |
| PubMedID: 30685441 |
| Gene_locus related to this paper: human-LPL |
| Title : Insulin sensitivity is impaired in heterozygous carriers of lipoprotein lipase deficiency - Holzl_2002_Diabetologia_45_378 |
| Author(s) : Holzl B , Iglseder B , Sandhofer A , Malaimare L , Lang J , Paulweber B , Sandhofer F |
| Ref : Diabetologia , 45 :378 , 2002 |
| Abstract : |
| PubMedSearch : Holzl_2002_Diabetologia_45_378 |
| PubMedID: 11914743 |
| Title : Polymorphism of the lipoprotein lipase gene and risk of atherothrombotic cerebral infarction in the Japanese - Shimo-Nakanishi_2001_Stroke_32_1481 |
| Author(s) : Shimo-Nakanishi Y , Urabe T , Hattori N , Watanabe Y , Nagao T , Yokochi M , Hamamoto M , Mizuno Y |
| Ref : Stroke , 32 :1481 , 2001 |
| Abstract : |
| PubMedSearch : Shimo-Nakanishi_2001_Stroke_32_1481 |
| PubMedID: 11441189 |
| Title : Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women - Nicklas_2000_Hum.Genet_106_420 |
| Author(s) : Nicklas BJ , Ferrell RE , Rogus EM , Berman DM , Ryan AS , Dennis KE , Goldberg AP |
| Ref : Hum Genet , 106 :420 , 2000 |
| Abstract : |
| PubMedSearch : Nicklas_2000_Hum.Genet_106_420 |
| PubMedID: 10830909 |
| Title : Influence of PvuII (intron 6) polymorphism of the lipoprotein lipase gene on cord plasma lipid and apolipoprotein levels in Indian and Chinese newborns of Singapore - Low_1998_Pediatr.Res_43_240 |
| Author(s) : Low PS , Saha N , Tay JS , Arulkumaran S |
| Ref : Pediatr Res , 43 :240 , 1998 |
| Abstract : |
| PubMedSearch : Low_1998_Pediatr.Res_43_240 |
| PubMedID: 9475291 |
| Title : Common DNA polymorphisms at the lipoprotein lipase gene. Association with severity of coronary artery disease and diabetes - Wang_1996_Circulation_93_1339 |
| Author(s) : Wang XL , McCredie RM , Wilcken DE |
| Ref : Circulation , 93 :1339 , 1996 |
| Abstract : |
| PubMedSearch : Wang_1996_Circulation_93_1339 |
| PubMedID: 8641022 |
| Title : Polymorphisms in the lipoprotein lipase gene and their associations with plasma lipid concentrations in 40-year-old Danish men - Gerdes_1995_Circulation_92_1765 |
| Author(s) : Gerdes C , Gerdes LU , Hansen PS , Faergeman O |
| Ref : Circulation , 92 :1765 , 1995 |
| Abstract : |
| PubMedSearch : Gerdes_1995_Circulation_92_1765 |
| PubMedID: 7671359 |
| Title : DNA polymorphisms at the lipoprotein lipase gene are associated with macroangiopathy in type 2 (non-insulin-dependent) diabetes mellitus - Ukkola_1995_Atherosclerosis_115_99 |
| Author(s) : Ukkola O , Savolainen MJ , Salmela PI , von Dickhoff K , Kesaniemi YA |
| Ref : Atherosclerosis , 115 :99 , 1995 |
| Abstract : |
| PubMedSearch : Ukkola_1995_Atherosclerosis_115_99 |
| PubMedID: 7669092 |
| Title : DNA polymorphisms at the lipoprotein lipase gene and their association with quantitative variation in plasma high-density lipoproteins and triacylglycerides - Mitchell_1994_Hum.Biol_66_383 |
| Author(s) : Mitchell RJ , Earl L , Bray P , Fripp YJ , Williams J |
| Ref : Hum Biol , 66 :383 , 1994 |
| Abstract : |
| PubMedSearch : Mitchell_1994_Hum.Biol_66_383 |
| PubMedID: 8026810 |
| Title : Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene - Holzl_1994_J.Lipid.Res_35_2161 |
| Author(s) : Holzl B , Huber R , Paulweber B , Patsch JR , Sandhofer F |
| Ref : J Lipid Res , 35 :2161 , 1994 |
| Abstract : |
| PubMedSearch : Holzl_1994_J.Lipid.Res_35_2161 |
| PubMedID: 7897314 |
| Gene_locus related to this paper: human-LPL |
| Title : DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population - Mattu_1994_Arterioscler.Thromb_14_1090 |
| Author(s) : Mattu RK , Needham EW , Morgan R , Rees A , Hackshaw AK , Stocks J , Elwood PC , Galton DJ |
| Ref : Arterioscler Thromb , 14 :1090 , 1994 |
| Abstract : |
| PubMedSearch : Mattu_1994_Arterioscler.Thromb_14_1090 |
| PubMedID: 7912549 |
| Title : PvuII restriction fragment length polymorphism of lipoprotein lipase in Russians - Stepanov_1993_Hum.Hered_43_388 |
| Author(s) : Stepanov VA , Lemza SV |
| Ref : Hum Hered , 43 :388 , 1993 |
| Abstract : |
| PubMedSearch : Stepanov_1993_Hum.Hered_43_388 |
| PubMedID: 7904587 |
| Title : Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion - Gotoda_1992_J.Lipid.Res_33_1067 |
| Author(s) : Gotoda T , Yamada N , Murase T , Shimano H , Shimada M , Harada K , Kawamura M , Kozaki K , Yazaki Y |
| Ref : J Lipid Res , 33 :1067 , 1992 |
| Abstract : |
| PubMedSearch : Gotoda_1992_J.Lipid.Res_33_1067 |
| PubMedID: 1358995 |
| Gene_locus related to this paper: human-LPL |
| Title : Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden - Peacock_1992_Atherosclerosis_97_171 |
| Author(s) : Peacock RE , Hamsten A , Nilsson-Ehle P , Humphries SE |
| Ref : Atherosclerosis , 97 :171 , 1992 |
| Abstract : |
| PubMedSearch : Peacock_1992_Atherosclerosis_97_171 |
| PubMedID: 1466662 |
| Title : Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency - Gotoda_1989_Biochem.Biophys.Res.Commun_164_1391 |
| Author(s) : Gotoda T , Senda M , Murase T , Yamada N , Takaku F , Furuichi Y |
| Ref : Biochemical & Biophysical Research Communications , 164 :1391 , 1989 |
| Abstract : |
| PubMedSearch : Gotoda_1989_Biochem.Biophys.Res.Commun_164_1391 |
| PubMedID: 2574035 |