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.Trp113Arg W113R (Trp86Arg W86R in the mature protein without signal peptide) found in a compound heterozygote for two mutations (W86R and Q106X) rs118204069A. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol\/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg)
| Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589 |
| Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U |
| Ref : J Lipid Res , :100589 , 2024 |
| Abstract : |
| PubMedSearch : Bardey_2024_J.Lipid.Res__100589 |
| PubMedID: 38969064 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review - Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| Author(s) : Ain Q , Cevc M , Marusic T , Sikonja J , Sadiq F , Sustar U , Mlinaric M , Kovac J , Batool H , Khan MI , Trebusak Podkrajsek K , Bizjan BJ , Battelino T , Fras Z , Ajmal M , Groselj U |
| Ref : Front Endocrinol (Lausanne) , 15 :1387419 , 2024 |
| Abstract : |
| PubMedSearch : Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| PubMedID: 38911039 |
| Gene_locus related to this paper: human-LPL |
| Title : Treatment of volanesorsen in a patient with familial chylmicronaemia syndrome (FCS) due to homozygous c.337T>C(p.TRP113ARG) - mutation and impact of dietary incompliance: A case report - De Gier_2022_Atherosclerosis_355_65 |
| Author(s) : De Gier C , Skacel G , Walleczek NK , Lischka J , Baumgartner M , Greber-Platzer S |
| Ref : Atherosclerosis , 355 :65 , 2022 |
| Abstract : |
| PubMedSearch : De Gier_2022_Atherosclerosis_355_65 |
| PubMedID: |
| Gene_locus related to this paper: human-LPL |
| Title : The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study - Thajer_2021_Children.(Basel)_8_1078 |
| Author(s) : Thajer A , Skacel G , De Gier C , Greber-Platzer S |
| Ref : Children (Basel) , 8 :1078 , 2021 |
| Abstract : |
| PubMedSearch : Thajer_2021_Children.(Basel)_8_1078 |
| PubMedID: 34828789 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia - Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| Author(s) : Caddeo A , Mancina RM , Pirazzi C , Russo C , Sasidharan K , Sandstedt J , Maurotti S , Montalcini T , Pujia A , Leren TP , Romeo S , Pingitore P |
| Ref : Nutr Metab Cardiovasc Dis , 28 :158 , 2018 |
| Abstract : |
| PubMedSearch : Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| PubMedID: 29288010 |
| Gene_locus related to this paper: human-LPL |
| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| Title : Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency - Rodrigues_2016_J.Clin.Lipidol_10_394 |
| Author(s) : Rodrigues R , Artieda M , Tejedor D , Martinez A , Konstantinova P , Petry H , Meyer C , Corzo D , Sundgreen C , Klor HU , Gouni-Berthold I , Westphal S , Steinhagen-Thiessen E , Julius U , Winkler K , Stroes E , Vogt A , Hardt P , Prophet H , Otte B , Nordestgaard BG , Deeb SS , Brunzell JD |
| Ref : J Clin Lipidol , 10 :394 , 2016 |
| Abstract : |
| PubMedSearch : Rodrigues_2016_J.Clin.Lipidol_10_394 |
| PubMedID: 27055971 |
| 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 : A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia - Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| Author(s) : Ishimura-Oka K , Faustinella F , Kihara S , Smith LC , Oka K , Chan L |
| Ref : American Journal of Human Genetics , 50 :1275 , 1992 |
| Abstract : |
| PubMedSearch : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| PubMedID: 1598907 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes - Reina_1992_J.Lipid.Res_33_1823 |
| Author(s) : Reina M , Brunzell JD , Deeb SS |
| Ref : J Lipid Res , 33 :1823 , 1992 |
| Abstract : |
| PubMedSearch : Reina_1992_J.Lipid.Res_33_1823 |
| PubMedID: 1479292 |
| Gene_locus related to this paper: human-LPL |