Results 111 to 120 of about 13,139 (196)

Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase

Proteostatic regulation of tyrosine hydroxylase (TH), the rate-limiting enzyme in dopamine biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants of the TH gene are associated with tyrosine hydroxylase deficiency (THD), a rare disorder with a wide phenotypic spectrum and variable response to treatment, which ...
Jung-KC, Kunwar||, Tristán-Noguero, A.||, Altankhuyag, Altanchimeg, Piñol Belenguer, David||, Prestegård, Karina S.||, Fernandez Carasa, Irene||, Colini Baldeschi, Arianna||, Sigatulina Bondarenko, Maria, García-Cazorla, Angels||, Consiglio, Antonella, Martinez, Aurora||   +10 more
openaire   +1 more source

Assessment of tetrahydrobiopterin responsiveness in Turkish hyperphenylalaninemic patients

The Turkish Journal of Pediatrics, 2007
Tetrahydrobiopterin (BH4) therapy is the latest alternative approach in phenylalanine hydroxylase (PAH) deficiency, and is suggested for a number of hyperphenylalaninemic (HPA) patients with certain mutations.
Sükran Yildirim, Ayşegül Tokatli, Engin Yilmaz, Turgay Coşkun   +3 more
doaj  

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4). [PDF]

Orphanet J Rare Dis, 2018
Brantley KD, Douglas TD, Singh RH.
europepmc   +1 more source

Impact of Acute Antioxidant and Tetrahydrobiopterin (BH₄) Administration on Locomotor Muscle Microvascular Function in Patients With Heart Failure. [PDF]

Circ Heart Fail
Ratchford SM, Clifton HL, Gifford JR, LaSalle DT, Thurston TS, Bunsawat K, Alpenglow JK, Wright JB, Amann M, Ryan JJ, Wray DW.   +10 more
europepmc   +1 more source

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect. [PDF]

Mol Genet Metab Rep
Upadia J, Crivelly K, Noh G, Cunningham A, Cerminaro C, Li Y, Mckoin M, Chenevert M, Andersson HC.   +8 more
europepmc   +1 more source

Funktion und Fehlfunktion der Phenylalaninhydroxylase in Abhängigkeit von Genotyp, metabolischem Status und Therapie mit dem pharmakologischen Chaperon Tetrahydrobiopterin [PDF]

, 2012
Staudigl, Michael
core   +1 more source

Biosynthesis and regeneration of tetrahydrobiopterin in neuronal cells

, 2015
5,6,7,8-Tetrahydrobiopterin (BH4) stellt ein überlebenswichtiges Koenzym dar. Nicht nur der absolute BH4-Gehalt der Zelle, sondern das Verhältnis von BH4 zu der oxidierten Form 7,8-Dihydrobiopterin (BH2) ist die Grundlage für eine effiziente Funktion der
Roth, Alexander
core  

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness. [PDF]

J Inherit Metab Dis
Himmelreich N, Blau N.
europepmc   +1 more source

FTO/m6A Regulate Prenatal Nicotine-Induced eNOS Uncoupling and BP Susceptibility. [PDF]

Hypertension
Liu B, He E, Li N, Ye Y, Li Y, Yu W, Liu T, Shao XM, Zhang L, Chen Y, Xu Z, Xiao D.   +11 more
europepmc   +1 more source

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. [PDF]

Sci Rep, 2017
Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X.   +6 more
europepmc   +1 more source