Article
Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis.
Brain & development - 1 Mar 1997
Takiyama N, Itoh K, Shimmoto M, Nishimoto J, Inui K, Sakuraba H, Suzuki Y
Abstract excerpt
The molecular form and subcellular distribution of acid beta-galactosidase in cultured fibroblasts from patients with beta-galactosidase deficiency (GM1-gangliosidosis, Morquio B disease and galactosialidosis) were studied, using antibodies against three different forms of the human enzyme: a hig...
Topics
- Antibody Specificity
- Cells, Cultured
- Fibroblasts
- Fluorescent Antibody Technique, Direct
- Galactosides
- Gangliosidosis, GM1
- Humans
- Infant
- Metabolism, Inborn Errors
- Mucopolysaccharidosis IV
- Multienzyme Complexes
- Phenotype
- RNA, Messenger
- Recombinant Proteins