Article
Detection of mutant protein in complex biological samples: glucocerebrosidase mutations in Gaucher's disease.
Analytical biochemistry - 1 Jan 2008
Bleijlevens Boris, van Breemen Mariëlle J, Donker-Koopman Wilma E, de Koster Chris G, Aerts Johannes M F G
Abstract excerpt
We report a sensitive method to detect point mutations in proteins from complex samples. The method is based on surface-enhanced laser desorption/ionization time-of-flight (SELDI-ToF) MS but can be extended to other MS platforms. The target protein in this study is the lysosomal enzyme glucocerebrosidase (GC), the key enzyme in Gaucher's disease. Deficiency of GC activity results in accumulation of...
Topics
- Amino Acid Sequence
- Chromatography, Gas
- Gaucher Disease
- Glucosylceramidase
- Glycosylation
- Humans
- Mass Spectrometry
- Molecular Sequence Data
- Mutation