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Article

Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation.

Biochemical and biophysical research communications - 14 Jul 1999

Inagaki H, Ohye T, Suzuki T, Segawa M, Nomura Y, Nagatsu T, Ichinose H

Abstract excerpt

Hereditary progressive dystonia with marked diurnal fluctuation (HPD; dopa-responsive dystonia, DRD) have been recently found to be caused by a genetic defect in the GTP cyclohydrolase I (GCH1) gene. In this study, we quantified the mRNA level of GCH1 in phytohemagglutinin (PHA)-stimulated mononuclear blood cells from one Japanese family that do not have a mutation in the coding region or splice junctions of the...

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Source

Identifiers

PMID: 10403837
DOI: 10.1006/bbrc.1999.0976

Genes

GCH1
HPD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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