Associated Papers
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
Jung-Klawitter S et al.
Journal of Inherited Metabolic Disease, 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › TH_Short_Var_Pathogenetic
Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.
Shi WT et al.
Genetics and Molecular Research : Gmr, 2015
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
Cai C et al.
Plos One, 2013
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Stamelou M et al.
Neurology, 2012
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