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.D345N Asp345Asn c.1033G>A(D324N Asp324Asn in the mature protein). This Aspartate belongs to the catalytic triad. Found in compound heterozygote with S275_Q298del in three patients from Italy
| 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 |