Article
Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Molecular medicine (Cambridge, Mass.) - 1 Aug 2000
Mustajoki S, Laine M, Lahtela M, Mustajoki P, Peltonen L, Kauppinen R
Abstract excerpt
BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant disorder that results from the partial deficiency of porphobilinogen deaminase (PBGD) in the heme biosynthetic pathway. Patients with AIP can experience acute attacks consisting of abdominal pain and various neuropsychiatric symptoms. Although molecular biological studies on the porphobilinogen deaminase (PBGD) gene have revealed several...
Topics
- Amino Acid Substitution
- Animals
- Blotting, Western
- COS Cells
- Codon, Nonsense
- Cytoplasm
- Enzyme Stability
- Exons
- Fluorescent Antibody Technique
- Humans
- Hydroxymethylbilane Synthase