Article
Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts.
American journal of human genetics - 1 Nov 1990
Fedde K N, Cole D E, Whyte M P
Abstract excerpt
We explored the biochemical basis for the disorder pseudohypophosphatasia (PsHYPT) in one patient by examining the substrate specificity and localization of alkaline phosphatase (ALP) in cultured dermal fibroblasts. Despite substantial ALP activity, in cell homogenates, toward the artificial substrate 4-methyl-umbelliferyl phosphate (4-MUP), there was a marked deficiency in ALP activity toward the natural...
Topics
- Alkaline Phosphatase
- Cells, Cultured
- Ethanolamines
- Fibroblasts
- Humans
- Hymecromone
- Hypophosphatasia
- Isoenzymes
- Kinetics
- Mutation
- Octoxynol
- Phosphoric Monoester Hydrolases