Article
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
Biochemical and biophysical research communications - 30 Jan 1990
Rafi M A, Zhang X L, DeGala G, Wenger D A
Abstract excerpt
The lysosomal degradation of sulfatide requires the specific enzyme, arylsulfatase A, as well as a heat stable protein called sphingolipid activator protein-1 (SAP-1). While most patients with metachromatic leukodystrophy have defects in arylsulfatase A, some patients have defects in SAP-1. SAP-1...
Topics
- Base Sequence
- Glycoproteins
- Glycosylation
- Humans
- Leukodystrophy, Metachromatic
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger
- Saposins
- Sphingolipid Activator Proteins