Tyrosine hydroxylase deficiency with severe clinical course. Mol. Genet. Metab., 2009, 97, 18-20.D.I. Zafeiriou, M.A. Willemsen, M.M. Verbeek, E. Vargiami, A. Ververi, R. Wevers, Tyrosine hydroxylase deficiency with severe clinical course, Mol Genet Metab 97(1) (2009) 18-20....
必应词典为您提供Tyrosine-hydroxylase-deficiency的释义,网络释义: 酪胺酸羟化酶缺乏症;酪胺酸羟化缺乏症;酪氨酸羟化酶缺乏症;
Infantile parkinsonism-dystonia: Tyrosine hydroxylase deficiencydoi:10.1002/MDS.870130226Robert SurteesPeter ClaytonMovement disordersSurtees R, Clayton P (1998) Infantile parkinsonism-dystonia: tyrosine hydroxylase de- ficiency. Movement Disord 13:350
Tyrosine hydroxylase activity can be modified in the presence of nitric oxide that results in nitration of tyrosine residues. Tyrosine hydroxylase activity and dopamine levels are shown to be significantly lower in the brain of Parkinson s disease subjects. Tyrosine hydroxylase deficiency leads to ...
have tyrosine hydroxylase deficiency, anautosomal recessive disordercaused by a mutation in the promoter region of the tyrosine hydroxylase gene (Willemsen, et al., 2010). These patients express either a hypokinetic-rigid syndrome withdystoniathat responds well to L-DOPA, or a complex encephalopathy...
et al. Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain 138, 2948–2963, doi: 10.1093/brain/awv224 (2015). 19. Dix, T. A., Kuhn, D. M. & Benkovic, S. J. Mechanism of oxygen activation by tyrosine ...
L-dopa and selegiline for tyrosine hydroxylase deficiency M Häussler,GF Hoffmann,RA Wevers - 《Journal of Pediatrics》 被引量: 9发表: 2001年 The role of the regulatory enzymes of catecholamine synthesis in Parkinson's disease of nigrostriatal dopamine (DA), resulting in a deficiency of DA, ...
As tyrosine hydroxylase (TH) catalyses the formation of L-DOPA, the rate-limiting step in the biosynthesis of DA, the Parkinson's disease (PD) can be considered as a TH-deficiency syndrome of the striatum. A direct pathogenetic role of TH has also been suggested, as the enzyme is a ...
Reflex control of sympathetic nerve activity in dopamine beta-hydroxylase deficiency. Hypertension 15, 107–112 (1990). 57. Sakurada, K., Ohshima-Sakurada, M., Palmer, T. D. & Gage, F. H. Nurr1, an orphan nuclear receptor, is a transcriptional activator of endogenous tyrosine hydroxylase ...
L-Tyrosine occupies a central position in the synthesis of several biologically active molecules, including the catecholamines, thyroxine and melanin. Its conversion to L-DOPA by tyrosine hydroxylase (TH) is the rate-limiting step in the generation of dopamine, epinephrine and norepinephrine, in the...