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

Korner, Germaine

In: Brain, 2015, vol. 138, no. 10, p. 2948-2963

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

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

In: Brain, 2015, vol. 138, no. 10, p. 2948-2963

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...