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.(G342W) p.Gly342Trp c.1024G>T Turkish proband homozygous for a G(1064)-->T G321W substitution in exon 10 G321W Gly321Trp in the primary translation product
| 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 : Vinje_2019_Hum.Mol.Genet_28_3043 |
| ESTHER : Vinje_2019_Hum.Mol.Genet_28_3043 |
| 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 : Vinje_2018_Mol.Genet.Metab_123_169 |
| ESTHER : Vinje_2018_Mol.Genet.Metab_123_169 |
| PubMedSearch : Vinje_2018_Mol.Genet.Metab_123_169 |
| PubMedID: 29196158 |
| Gene_locus related to this paper: human-LIPA |
| Title : Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease - Lohse_1999_J.Lipid.Res_40_221 |
| Author(s) : Lohse P , Maas S , Sewell AC , van Diggelen OP , Seidel D |
| Ref : J Lipid Res , 40 :221 , 1999 |
| Abstract : Lohse_1999_J.Lipid.Res_40_221 |
| ESTHER : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedSearch : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedID: 9925650 |
| Gene_locus related to this paper: human-LIPA |