Article
A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
The EMBO journal - 1 Dec 1991
Zhou X Y, Galjart N J, Willemsen R, Gillemans N, Galjaard H, d'Azzo A
Abstract excerpt
The lysosomal disorder galactosialidosis is caused by deficiency of the protective protein in the absence of which the activities of the enzymes beta-galactosidase and neuraminidase are reduced. Aside from its protective function towards the two glycosidases, this protein has cathepsin A-like activity. A point mutation in the protective protein gene, resulting in the substitution of Phe412 with Val in the gene...
Topics
- Base Sequence
- Carboxypeptidases
- Cathepsin A
- Cathepsins
- Cell Line
- Child
- Chromatography, Gel
- DNA
- Enzyme Precursors
- Female
- Glycoproteins
- Humans