Article
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
The Journal of biological chemistry - 14 Oct 1994
Schwindinger W F, Miric A, Zimmerman D, Levine M A
Abstract excerpt
Albright hereditary osteodystrophy (AHO) is an autosomal-dominant disorder characterized by decreased expression of Gs alpha and widespread tissue resistance to hormones that activate adenylyl cyclase. We identified a single mutation, R385H, in the Gs alpha gene of a subject with AHO who had evidence for a dysfunctional Gs alpha protein. The R385H substitution is near the carboxyl terminus of the Gs alpha protein...
Topics
- 1-Methyl-3-isobutylxanthine
- Adenylyl Cyclases
- Aluminum
- Base Sequence
- Child, Preschool
- Codon
- Colforsin
- Cyclic AMP
- Erythrocyte Membrane
- Exons
- Fluorine