Article
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.
Biochemical and biophysical research communications - 28 Jan 1994
Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu A, Okada S
Abstract excerpt
Human galactocerebrosidase, the enzyme deficient in Krabbe disease, was purified, through several hydrophobic column steps and gel filtration, 22,650-fold from human lymphocytes. Using information on its N-terminal and internal amino acid sequences, and the polymerase chain reaction method, we cl...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Cloning, Molecular
- DNA, Complementary
- Fibroblasts
- Galactosylceramidase
- Humans
- Leukodystrophy, Globoid Cell
- Lymphocytes
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein Precursors
- Protein Sorting Signals