PTS Antibody

1. Severe neurological impairment from BH4 deficiency could be prevented by newborn screening for hyperphenylalaninemia (HPA) and proper metabolic management. PMID: 19830588
2. A total of 43 mutations were identified in the PTS gene in a screen of East Asian populations, comprising 22 previously reported mutations and 21 new discovered mutations. PMID: 22237589
3. The mutant characterization of PTPS gene was coincident with other early studies in Chinese. The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype. PMID: 18505119
4. Our data show that PTPS induction is necessary for optimized BH4 synthesis in cytokine-stimulated human coronary artery endothelial cells and point to IL-1beta as a leading cytokine in this process. PMID: 14551150
5. Hyperphenylalaninemia may be caused by deficiency of Phe hydroxylase or by deficiency of co-factor BH(4). PMID: 16086286
6. Human PTS was efficiently expressed in noradrenergic regions but only in a small number of dopaminergic neurons. PMID: 16135092
7. Expression of PTS was significantly decreased in PD cases. PMID: 17270157
8. mutational analysis in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency PMID: 11438997

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HGNC: 9689

OMIM: 261640

KEGG: hsa:5805

STRING: 9606.ENSP00000280362

UniGene: Hs.503860