Article
Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation).
Biochemical and biophysical research communications - 9 Jun 1998
Itoh K, Shimmoto M, Utsumi K, Mizoguchi N, Miharu N, Ohama K, Sakuraba H
Abstract excerpt
Galactosialidosis is a human autosomal recessive lysosomal storage disease caused by a genetic defect of protective protein/cathepsin A (PPCA). The patients in a Japanese family with the severe early-infantile form of galactosialidosis were revealed to be homozygous for the A1184-G transition in the PPCA gene in both alleles, which leads to the Y395C substitution. The acid carboxypeptidase (cathepsin A) and...
Topics
- Amino Acid Substitution
- Antibodies
- Carboxypeptidases
- Cathepsin A
- Cells, Cultured
- Cysteine
- Female
- Fluorescent Antibody Technique, Indirect
- Genotype
- Homozygote
- Humans
- Immunoblotting
- Infant