| Title : A new Italian case of lipoprotein lipase deficiency: a Leu365- >\; Val change resulting in loss of enzyme activity - Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| Author(s) : Pepe G , Chimienti G , Resta F , Di Perna V , Tarricone C , Lovecchio M , Colacicco AM , Capurso A |
| Ref : Biochemical & Biophysical Research Communications , 199 :570 , 1994 |
| Abstract : We describe a second Italian family with primary Lipoprotein Lipase deficiency. A new mutation in exon 8 causes a Leu365- > Val change resulting in severe mass reduction and loss of enzyme activity. We suggest that this change interferes with the correct folding and stability of the protein and impairs the assembly of the active homodimer. The procedures applied are useful to screen a large sample of population for genetic variants and allow the clear identification of asymptomatic heterozygous subjects at risk from atherosclerosis disease. |
| ESTHER : Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| PubMedSearch : Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| PubMedID: 8135797 |
| Gene_locus related to this paper: human-LPL |
| Gene_locus related to this paper: human-LPL |
Pepe G, Chimienti G, Resta F, Di Perna V, Tarricone C, Lovecchio M, Colacicco AM, Capurso A (1994)
A new Italian case of lipoprotein lipase deficiency: a Leu365- >\; Val change resulting in loss of enzyme activity
Biochemical & Biophysical Research Communications
199 :570
Pepe G, Chimienti G, Resta F, Di Perna V, Tarricone C, Lovecchio M, Colacicco AM, Capurso A (1994)
Biochemical & Biophysical Research Communications
199 :570