Article
Evidence for central nervous system glial cell plasticity in phenylketonuria.
Journal of neuropathology and experimental neurology - 1 Jul 1996
Dyer C A, Kendler A, Philibotte T, Gardiner P, Cruz J, Levy H L
Abstract excerpt
Phenylketonuria (PKU) is caused by mutation(s) in the phenylalanine hydroxylase (PAH) gene which lead to deficient PAH activity and an accumulation of phenylalanine in the blood. The primary pathologic finding is hypomyelination and gliosis of central nervous system white matter. Similar white matter pathology is observed in the Pahenu2 mouse, a genetic model for PKU. We studied this mouse to examine the basis...
Topics
- Adult
- Animals
- Biomarkers
- Brain
- Glial Fibrillary Acidic Protein
- Gliosis
- Humans
- Mice
- Mice, Mutant Strains
- Mutation
- Myelin Basic Protein
- Myelin Sheath
- Neuroglia
- Neuronal Plasticity
- Oligodendroglia
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
