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.G87V p.Gly87Valggc>gtc in the primary translation product, alternative numbering p.G66V in the mature protein. Found in a compound homozygote with G-5R and G60V mutations.G60V in the mature protein as described in the publication of Zschenker in fact G66V
| Title : Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles - Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| Author(s) : Jackson J , Farajzadeh J , Turner R , Yukutake K , Baghdasaryan E , Denis ES , Barseghyan T , Herrera P , Begaj S , Pietruszka M , Valles-Ayoub Y |
| Ref : Genet Test Mol Biomarkers , 27 :319 , 2023 |
| Abstract : Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| ESTHER : Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| PubMedSearch : Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| PubMedID: 37903030 |
| Gene_locus related to this paper: human-LIPA |
| Title : First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease - Elaraby_2023_J.Mol.Neurosci__ |
| Author(s) : Elaraby NM , Galal ER , Abdel-Hamid M , Elbendary HM , Elbadry M , Mekkawy MK , Ashaat NA , Mounir SM , Ashaat EA |
| Ref : Journal of Molecular Neuroscience , : , 2023 |
| Abstract : Elaraby_2023_J.Mol.Neurosci__ |
| ESTHER : Elaraby_2023_J.Mol.Neurosci__ |
| PubMedSearch : Elaraby_2023_J.Mol.Neurosci__ |
| PubMedID: 37470904 |
| Gene_locus related to this paper: human-LIPA |
| Title : Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry - Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| Author(s) : Valles-Ayoub Y , Esfandiarifard S , No D , Sinai P , Khokher Z , Kohan M , Kahen T , Darvish D |
| Ref : Genet Test Mol Biomarkers , 15 :395 , 2011 |
| Abstract : Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| ESTHER : Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| PubMedSearch : Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| PubMedID: 21291321 |
| Title : Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease - Zschenker_2001_J.Lipid.Res_42_1033 |
| Author(s) : Zschenker O , Jung N , Rethmeier J , Trautwein S , Hertel S , Zeigler M , Ameis D |
| Ref : J Lipid Res , 42 :1033 , 2001 |
| Abstract : Zschenker_2001_J.Lipid.Res_42_1033 |
| ESTHER : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedSearch : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedID: 11441129 |
| Gene_locus related to this paper: human-LIPA |
| Title : Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease - Pagani_1996_Hum.Mol.Genet_5_1611 |
| Author(s) : Pagani F , Garcia R , Pariyarath R , Stuani C , Gridelli B , Paone G , Baralle FE |
| Ref : Hum Mol Genet , 5 :1611 , 1996 |
| Abstract : Pagani_1996_Hum.Mol.Genet_5_1611 |
| ESTHER : Pagani_1996_Hum.Mol.Genet_5_1611 |
| PubMedSearch : Pagani_1996_Hum.Mol.Genet_5_1611 |
| PubMedID: 8894696 |
| Gene_locus related to this paper: human-LIPA |