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.Trp140Ter W140X c419G>A Homozygote with Wolman disease p.Trp119Ter W119X in mature protein. Found also as compound heterozygote with c894G>A, p.Ser275_GLn298del S275_Q298del Found also as compound heterozygote with c.851C>T (p.Ser284Phe)
| Title : Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia - Sheth_2023_JACC.Case.Rep_24_102023 |
| Author(s) : Sheth S , Toth PP , Baum SJ , Aggarwal M |
| Ref : JACC Case Rep , 24 :102023 , 2023 |
| Abstract : |
| PubMedSearch : Sheth_2023_JACC.Case.Rep_24_102023 |
| PubMedID: 37869222 |
| Title : A Novel Variant in the LIPA Gene Associated with Distinct Phenotype - Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| Author(s) : Sarajlija A , Armengol L , Maver A , Kitic I , Prokic D , Cehic M , Djuricic MS , Peterlin B |
| Ref : Balkan Journal of Medical Genetics , 25 :93 , 2022 |
| Abstract : |
| PubMedSearch : Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| PubMedID: 36880034 |
| 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 : Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease - Fasano_2012_Mol.Genet.Metab_105_450 |
| Author(s) : Fasano T , Pisciotta L , Bocchi L , Guardamagna O , Assandro P , Rabacchi C , Zanoni P , Filocamo M , Bertolini S , Calandra S |
| Ref : Mol Genet Metab , 105 :450 , 2012 |
| Abstract : |
| PubMedSearch : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedID: 22227072 |
| Gene_locus related to this paper: human-LIPA |