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Article

Dopa-responsive dystonia is induced by a dominant-negative mechanism.

Annals of neurology - 1 Oct 2000

Hwu W L, Chiou Y W, Lai S Y, Lee Y M

Abstract excerpt

Dopa-responsive dystonia (DRD) is induced by a deficiency of GTP cyclohydrolase I (GCH) and has a postulated autosomal dominant inheritance with a low penetrance. G201E is a dominant DRD mutation. Recombinant G201E mutant protein possessed very low enzyme activity. When G201E was expressed in eukaryotic cells, only a small amount of GCH protein could be detected. In baby hamster kidney cells, G201E protein was...

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PMID: 11026444

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

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