Article
Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit.
The Journal of cell biology - 1 Oct 1991
Fransen J A, Hauri H P, Ginsel L A, Naim H Y
Abstract excerpt
Mutations in the sucrase-isomaltase gene can lead to the synthesis of transport-incompetent or functionally altered enzyme in congenital sucrase-isomaltase deficiency (CSID) (Naim, H. Y., J. Roth, E. Sterchi, M. Lentze, P. Milla, J. Schmitz, and H. P. Hauri. J. Clin. Invest. 82:667-679). In this...
Topics
- Cell Compartmentation
- Cell Membrane
- Epitopes
- Glycosylation
- Humans
- Intestinal Mucosa
- Microscopy, Electron
- Molecular Weight
- Mutation
- Precipitin Tests
- Protein Processing, Post-Translational
- Structure-Activity Relationship
- Sucrase-Isomaltase Complex