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 :
p.L357P p.Leu357Pro. (L336P Leu336Pro in the mature protein)
| Title : Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity - Vinje_2019_Hum.Mol.Genet_28_3043 |
| Author(s) : Vinje T , Laerdahl JK , Bjune K , Leren TP , Strom TB |
| Ref : Hum Mol Genet , 28 :3043 , 2019 |
| Abstract : |
| PubMedSearch : Vinje_2019_Hum.Mol.Genet_28_3043 |
| PubMedID: 31131398 |
| Gene_locus related to this paper: human-LIPA |
| Title : Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene - Vinje_2018_Mol.Genet.Metab_123_169 |
| Author(s) : Vinje T , Wierod L , Leren TP , Strom TB |
| Ref : Mol Genet Metab , 123 :169 , 2018 |
| Abstract : |
| PubMedSearch : Vinje_2018_Mol.Genet.Metab_123_169 |
| PubMedID: 29196158 |
| Gene_locus related to this paper: human-LIPA |
| Title : A novel variant of lysosomal acid lipase (Leu336-->\;Pro) associated with acid lipase deficiency and cholesterol ester storage disease - Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| Author(s) : Seedorf U , Wiebusch H , Muntoni S , Christensen NC , Skovby F , Nickel V , Roskos M , Funke H , Ose L , Assmann G |
| Ref : Arterioscler Thromb Vasc Biol , 15 :773 , 1995 |
| Abstract : |
| PubMedSearch : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| PubMedID: 7773732 |
| Gene_locus related to this paper: human-LIPA |