Article
Homologous modeling of the lysosomal protective protein/carboxypeptidase L: structural and functional implications of mutations identified in galactosialidosis patients.
Proteins - 1 Jan 1994
Elsliger M A, Potier M
Abstract excerpt
The deficiency of the lysosomal protective protein/carboxypeptidase L (CARB L) causes the lysosomal storage disorder, galactosialidosis, characterized by neuraminidase and beta-galactosidase deficiencies in patients' cells. The three enzymes form a complex inside the lysosome, and the neuraminidase and beta-galactosidase deficiencies are secondary to CARB L deficiency. Sequence similarity and common enzymological...
Topics
- Amino Acid Sequence
- Binding Sites
- Carboxypeptidases
- Computer Simulation
- Enzyme Activation
- Humans
- Lysosomal Storage Diseases
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Protein Conformation