Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
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 :
rs1051338 coronary artery disease-associated coding variant nonsynonymous threonine to proline change within the signal peptide of LAL
| Title : Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico - Hernandez-Orozco_2024_J.Clin.Lab.Anal_38_e25083 |
| Author(s) : Hernandez-Orozco AA , Melendez-Aranda L , Mendoza-Ruvalcaba SDC , Perea-Diaz FJ , Cebolla JJ , Giraldo P , Brambila-Tapia AJL , Garcia-Ortiz JE |
| Ref : J Clin Lab Anal , :e25083 , 2024 |
| Abstract : |
| PubMedSearch : Hernandez-Orozco_2024_J.Clin.Lab.Anal_38_e25083 |
| PubMedID: 39105399 |
| Gene_locus related to this paper: human-LIPA |
| Title : Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease - Evans_2019_Arterioscler.Thromb.Vasc.Biol_39_2480 |
| Author(s) : Evans TD , Zhang X , Clark RE , Alisio A , Song E , Zhang H , Reilly MP , Stitziel NO , Razani B |
| Ref : Arterioscler Thromb Vasc Biol , 39 :2480 , 2019 |
| Abstract : |
| PubMedSearch : Evans_2019_Arterioscler.Thromb.Vasc.Biol_39_2480 |
| PubMedID: 31645127 |
| Gene_locus related to this paper: human-LIPA |
| Title : Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes - Morris_2017_Arterioscler.Thromb.Vasc.Biol_37_1050 |
| Author(s) : Morris GE , Braund PS , Moore JS , Samani NJ , Codd V , Webb TR |
| Ref : Arterioscler Thromb Vasc Biol , 37 :1050 , 2017 |
| Abstract : |
| PubMedSearch : Morris_2017_Arterioscler.Thromb.Vasc.Biol_37_1050 |
| PubMedID: 28279971 |
| Gene_locus related to this paper: human-LIPA |
| Title : Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients - Guenard_2012_Obesity.(Silver.Spring)_20_2075 |
| Author(s) : Guenard F , Houde A , Bouchard L , Tchernof A , Deshaies Y , Biron S , Lescelleur O , Biertho L , Marceau S , Perusse L , Vohl MC |
| Ref : Obesity (Silver Spring) , 20 :2075 , 2012 |
| Abstract : |
| PubMedSearch : Guenard_2012_Obesity.(Silver.Spring)_20_2075 |
| PubMedID: 22395809 |
| Gene_locus related to this paper: human-LIPA |
| Title : Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism - von Trotha_2006_Neurosci.Lett_402_262 |
| Author(s) : von Trotha KT , Heun R , Schmitz S , Lutjohann D , Maier W , Kolsch H |
| Ref : Neuroscience Letters , 402 :262 , 2006 |
| Abstract : |
| PubMedSearch : von Trotha_2006_Neurosci.Lett_402_262 |
| PubMedID: 16730122 |
| Gene_locus related to this paper: human-LIPA |