Protein Variants | Comment | Organism |
---|---|---|
additional information | Pts-/- mice rescued by a transgenic introduction of human PTS cDNA under the control of the human promoter of the dopamine beta-hydroxylase represent a mouse model for dopa-responsive dystonia. Mutant mice exhibit motor deficits and manifested a major depletion of tyrosine hydroxylase (TH) labeling in the striatum, with a marked posterior-to-anterior gradient resulting in near total loss caudally. Within the regions of remaining TH staining in the striatum, there is a greater loss of TH labeling in striosomes than in the surrounding matrix. The predominant loss of TH expression in striosomes occurrs during the early postnatal period, when motor symptoms first appear | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
6-pyruvoyltetrahydropterin synthase | - |
Homo sapiens |
PTS | - |
Homo sapiens |