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 :
The most common mutation E8SJM. c894 G->A (c.894G > A) mutation at the 3'-splice junction of exon 8.Causes the deletion of 72bp exon skipping del254-277. Found in compound heterozygotes. And also as homozygote Mutoni 1995. S254-Q277 in the mature protein (c.894G>A\; E8SJM) found in patients with more benign cholesteryl ester storage disease (CESD) some correct splicing can occur. Another mutation c.G895A also found at the same splice junction giving the Wolman disease (WD) in that case absolutly no scorrect splicing occurs and no LIPA is produced Pagani et al. 1998. Another mutation at position -3 S275_Q298delX_human-LIPA gives a stop codon at the end of exon 8 and no LIPA ativity Ries et al 1996
| Title : Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program - Sustar_2022_Front.Genet_13_936121 |
| Author(s) : Sustar U , Groselj U , Trebusak Podkrajsek K , Mlinaric M , Kovac J , Thaler M , Drole Torkar A , Skarlovnik A , Battelino T , Hovnik T |
| Ref : Front Genet , 13 :936121 , 2022 |
| Abstract : |
| PubMedSearch : Sustar_2022_Front.Genet_13_936121 |
| PubMedID: 35903350 |
| Gene_locus related to this paper: human-LIPA |
| Title : Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature - Rashu_2020_World.J.Clin.Cases_8_1642 |
| Author(s) : Rashu EB , Junker AE , Danielsen KV , Dahl E , Hamberg O , Borgwardt L , Christensen VB , Wewer Albrechtsen NJ , Gluud LL |
| Ref : World J Clin Cases , 8 :1642 , 2020 |
| Abstract : |
| PubMedSearch : Rashu_2020_World.J.Clin.Cases_8_1642 |
| PubMedID: 32432142 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? - Chora_2017_J.Clin.Lipidol_11_477 |
| Author(s) : Chora JR , Alves AC , Medeiros AM , Mariano C , Lobarinhas G , Guerra A , Mansilha H , Cortez-Pinto H , Bourbon M |
| Ref : J Clin Lipidol , 11 :477 , 2017 |
| Abstract : |
| PubMedSearch : Chora_2017_J.Clin.Lipidol_11_477 |
| PubMedID: 28502505 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease - Ruiz-Andres_2017_JIMD.Rep_37_7 |
| Author(s) : Ruiz-Andres C , Selles E , Arias A , Gort L |
| Ref : JIMD Rep , 37 :7 , 2017 |
| Abstract : |
| PubMedSearch : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| PubMedID: 28220406 |
| 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 : Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations - Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| Author(s) : Muntoni S , Wiebusch H , Jansen-Rust M , Rust S , Schulte H , Berger K , Pisciotta L , Bertolini S , Funke H , Seedorf U , Assmann G |
| Ref : Nutr Metab Cardiovasc Dis , 23 :732 , 2013 |
| Abstract : |
| PubMedSearch : Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
| PubMedID: 22795295 |
| Gene_locus related to this paper: human-LIPA |
| Title : Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>\;A) in various racial and ethnic groups - Scott_2013_Hepatology_58_958 |
| Author(s) : Scott SA , Liu B , Nazarenko I , Martis S , Kozlitina J , Yang Y , Ramirez C , Kasai Y , Hyatt T , Peter I , Desnick RJ |
| Ref : Hepatology , 58 :958 , 2013 |
| Abstract : |
| PubMedSearch : Scott_2013_Hepatology_58_958 |
| PubMedID: 23424026 |
| Title : Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease - Bernstein_2013_J.Hepatol_58_1230 |
| Author(s) : Bernstein DL , Hulkova H , Bialer MG , Desnick RJ |
| Ref : Journal of Hepatology , 58 :1230 , 2013 |
| Abstract : |
| PubMedSearch : Bernstein_2013_J.Hepatol_58_1230 |
| PubMedID: 23485521 |
| 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 |
| Title : Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene - Pisciotta_2009_Mol.Genet.Metab_97_143 |
| Author(s) : Pisciotta L , Fresa R , Bellocchio A , Pino E , Guido V , Cantafora A , Di Rocco M , Calandra S , Bertolini S |
| Ref : Mol Genet Metab , 97 :143 , 2009 |
| Abstract : |
| PubMedSearch : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedID: 19307143 |
| Gene_locus related to this paper: human-LIPA |
| Title : A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease - Hooper_2008_Clin.Chim.Acta_398_152 |
| Author(s) : Hooper AJ , Tran HA , Formby MR , Burnett JR |
| Ref : Clinica Chimica Acta , 398 :152 , 2008 |
| Abstract : |
| PubMedSearch : Hooper_2008_Clin.Chim.Acta_398_152 |
| PubMedID: 18775687 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease - Anderson_1999_Mol.Genet.Metab_68_333 |
| Author(s) : Anderson RA , Bryson GM , Parks JS |
| Ref : Mol Genet Metab , 68 :333 , 1999 |
| Abstract : |
| PubMedSearch : Anderson_1999_Mol.Genet.Metab_68_333 |
| PubMedID: 10562460 |
| Gene_locus related to this paper: human-LIPA |
| Title : New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease - Pagani_1998_J.Lipid.Res_39_1382 |
| Author(s) : Pagani F , Pariyarath R , Garcia R , Stuani C , Burlina AB , Ruotolo G , Rabusin M , Baralle FE |
| Ref : J Lipid Res , 39 :1382 , 1998 |
| Abstract : |
| PubMedSearch : Pagani_1998_J.Lipid.Res_39_1382 |
| PubMedID: 9684740 |
| Gene_locus related to this paper: human-LIPA |
| Title : Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease - Du_1998_Mol.Genet.Metab_64_126 |
| Author(s) : Du H , Sheriff S , Bezerra J , Leonova T , Grabowski GA |
| Ref : Mol Genet Metab , 64 :126 , 1998 |
| Abstract : |
| PubMedSearch : Du_1998_Mol.Genet.Metab_64_126 |
| PubMedID: 9705237 |
| 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 : Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) - Muntoni_1995_Hum.Genet_95_491 |
| Author(s) : Muntoni S , Wiebusch H , Funke H , Ros E , Seedorf U , Assmann G |
| Ref : Hum Genet , 95 :491 , 1995 |
| Abstract : |
| PubMedSearch : Muntoni_1995_Hum.Genet_95_491 |
| PubMedID: 7759067 |
| Title : A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease - Ameis_1995_J.Lipid.Res_36_241 |
| Author(s) : Ameis D , Brockmann G , Knoblich R , Merkel M , Ostlund RE, Jr. , Yang JW , Coates PM , Cortner JA , Feinman SV , Greten H |
| Ref : J Lipid Res , 36 :241 , 1995 |
| Abstract : |
| PubMedSearch : Ameis_1995_J.Lipid.Res_36_241 |
| PubMedID: 7751811 |
| Gene_locus related to this paper: human-LIPA |
| Title : Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease - Maslen_1995_J.Inherit.Metab.Dis_18_620 |
| Author(s) : Maslen CL , Babcock D , Illingworth DR |
| Ref : J Inherit Metab Dis , 18 :620 , 1995 |
| Abstract : |
| PubMedSearch : Maslen_1995_J.Inherit.Metab.Dis_18_620 |
| PubMedID: 8598644 |
| Title : A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease - Klima_1993_J.Clin.Invest_92_2713 |
| Author(s) : Klima H , Ullrich K , Aslanidis C , Fehringer P , Lackner KJ , Schmitz G |
| Ref : J Clinical Investigation , 92 :2713 , 1993 |
| Abstract : |
| PubMedSearch : Klima_1993_J.Clin.Invest_92_2713 |
| PubMedID: 8254026 |
| Gene_locus related to this paper: human-LIPA |