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.R218X p.Arg218Ter c.652 C>T found in a compound heterozygote with c.894 G>A (S275_Q298del) and R197X in mature protein. Found also in a compound heterozygote with c881T>C, P.L294S
| 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 : Pisciotta_2017_Atherosclerosis_265_124 |
| ESTHER : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedID: 28881270 |
| 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 : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| ESTHER : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedSearch : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedID: 19307143 |
| Gene_locus related to this paper: human-LIPA |