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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...

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Source

Identifiers

PMID: 8965095
DOI: 10.1097/00005072-199607000-00005

Genes

GFAP
MBP
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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