Article
Disorders of intracellular protein trafficking in human disease.
Connective tissue research - 1 Jan 1995
Delahunty M, Bonifacino J S
Abstract excerpt
Most known forms of osteogenesis imperfecta (OI) are caused by mutations in type I collagen genes. The numerous mutations described to date result in either decreased synthesis of normal collagen molecules or synthesis of aberrant molecules. The aberrant molecules are in some cases secreted into the medium, but in many cases they are retained intracellularly. The heterogeneity of molecular defects underlying OI,...
Topics
- Animals
- Bone and Bones
- Collagen
- Endoplasmic Reticulum
- Glycosylphosphatidylinositols
- Hemoglobinuria, Paroxysmal
- Humans
- Mutation
- Osteogenesis Imperfecta
- Protein Precursors
- Protein Transport