Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
Summary :
AAA Change :
Allelic Variant : H295Y_human-LIPA
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.H295Y p.His295Tyr in the primary translation product (H274Y His274Tyr in the mature protein) c883C>T, p.H295Y (His295Tyr. Found in compound heterozygote with S275_Q298del
| 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 : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124 |
| Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 265 :124 , 2017 |
| Abstract : |
| PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedID: 28881270 |
| Gene_locus related to this paper: human-LIPA |
| Title : Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase - Redonnet-Vernhet_1997_Biochem.Mol.Med_62_42 |
| Author(s) : Redonnet-Vernhet I , Chatelut M , Basile JP , Salvayre R , Levade T |
| Ref : Biochemical & Molecular Medicine , 62 :42 , 1997 |
| Abstract : |
| PubMedSearch : Redonnet-Vernhet_1997_Biochem.Mol.Med_62_42 |
| PubMedID: 9367797 |
| 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 : |
| PubMedSearch : Pagani_1996_Hum.Mol.Genet_5_1611 |
| PubMedID: 8894696 |
| Gene_locus related to this paper: human-LIPA |
| Title : A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease - Pagani_1994_Hum.Mol.Genet_3_1605 |
| Author(s) : Pagani F , Zagato L , Merati G , Paone G , Gridelli B , Maier JA |
| Ref : Hum Mol Genet , 3 :1605 , 1994 |
| Abstract : |
| PubMedSearch : Pagani_1994_Hum.Mol.Genet_3_1605 |
| PubMedID: 7833918 |
| Gene_locus related to this paper: human-LIPA |