Genetic causes of Parkinson’s disease in the Maltese : a study of selected mutations in LRRK2, MTHFR, QDPR and SPR [PDF]
, 2016 The samples and data used in this study were collected as part of the 5th framework (FP5) EU funded Geoparkinson study, project number QLK4‐CT‐ 1999‐01133.
Bezzina Wettinger, Stephanie +5 more
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Tetrahydrobiopterin in phenylketonuria: Who can benefit? [PDF]
, 2020 Phenylketonuria, abbreviated PKU, is a rare inherited metabolic disease. In this disease, a building block of protein (an amino acid) called phenylalanine cannot be converted to tyrosine. This results in high phenylalanine concentrations in blood and brain. If left untreated, this especially results in severe developmental delay as well as epilepsy and
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Journal of Neurochemistry, Volume 170, Issue 4, April 2026.Tyrosine hydroxylase (TH) is a rate‐limiting enzyme for catecholamine synthesis. In this study, we generated a novel Th gene conditional knockout mouse line by crossing Th‐flox mice with Slc6a4‐Cre mice. To our surprise, TH expression was largely lost in the adrenal medulla and sympathetic neurons in the conditional knockout mice.
Ryohei Ogawa +4 more
wiley +1 more source
Differential Inhibition of Constitutive and Inducible Nitric Oxide Synthase in Vascular Endothelial Cells by Analogues of Tetrahydrobiopterin [PDF]
, 2017 In the vasculature, a physiologic production of nitric oxide (NO) is maintained by endothelial nitric oxide synthase (eNOS). Induction of inducible nitric oxide synthase (ÍNOS) under inflammatory conditions (e.g. septic shock) resulting in high levels of
Linscheid, Philippe +4 more
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Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency [PDF]
, 2018 Summary: The oral loading test with tetrahydrobiopterin (BH4) is used to discriminate between variants of hyperphenylalaninaemia and to detect BH4-responsive patients.
Blau, N. +8 more
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Tetrahydrobiopterin protects soluble guanylate cyclase against oxidative inactivation
Pteridines, 2013 Tetrahydrobiopterin (BH4) is a major endogenous vasoprotective agent that improves endothelial function by increasing nitric oxide (NO) synthesis and scavenging of superoxide and peroxynitrite.
Schmidt Kurt +2 more
doaj +1 more source
Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]
Journal of Medical Biochemistry, 2009 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj
Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]
, 2007 Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core
Tetrahydrobiopterin, superoxide, and vascular dysfunction [PDF]
Free Radical Biology and Medicine, 2009 (6R)-5,6,7,8-Tetrahydrobiopterin (BH(4)) is an endogenously produced pterin that is found widely distributed in mammalian tissues. BH(4) works as a cofactor of aromatic amino acid hydroxylases and nitric oxide synthases. In the vasculature a deficit of BH(4) is implicated in the mechanisms of several diseases including atherosclerosis, hypertension ...
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Pteridines, 1995 Incorporation of fatty acids into phospholipids has been investigated using samples of rat live tissue homogenate, Krebs-Ringer-phosphate buffer (pH = 7A) containing 0.3% albumin, farry acid mixture and glycerol.
Rudzite Vera +4 more
doaj +1 more source