Article
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Human mutation - 1 Aug 2005
Dardis Andrea, Zampieri Stefania, Filocamo Mirella, Burlina Alberto, Bembi Bruno, Pittis Maria Gabriela
Abstract excerpt
Niemann Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase due to mutations in the SMPD1 gene. We functionally characterized three novel SMPD1 mutations and 11 already reported in the Italian population. Mutant alleles were studied for enzyme activity and protein processing in transiently transfected COS-1 cells. The c.96G>A,...
Topics
- Adult
- Alleles
- Animals
- COS Cells
- Child, Preschool
- Chlorocebus aethiops
- DNA Primers
- Humans
- In Vitro Techniques
- Italy
- Male
- Mutation
- Niemann-Pick Diseases
- Sphingomyelin Phosphodiesterase