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Article

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

Brain : a journal of neurology - 1 Oct 2015

Korner Germaine, Noain Daniela, Ying Ming, Hole Magnus, Flydal Marte I, Scherer Tanja, Allegri Gabriella, Rassi Anahita, Fingerhut Ralph, Becu-Villalobos Damasia, Pillai Samyuktha, Wueest Stephan, Konrad Daniel, Lauber-Biason Anna, Baumann Christian R, Bindoff Laurence A, Martinez Aurora, Thöny Beat

Abstract excerpt

Tyrosine hydroxylase catalyses the hydroxylation of L-tyrosine to l-DOPA, the rate-limiting step in the synthesis of catecholamines. Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to complex encephalopathy...

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PMID: 26276013
DOI: 10.1093/brain/awv224

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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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