Patients with hyperphenylalaninemia (HPA) are detected through newborn screening for
phenylketonuria (PKU). HPA is known to be caused by deficiencies of the enzyme …

Introduction: The ancient and ubiquitous monoamine signalling molecules serotonin,
dopamine, norepinephrine, and epinephrine are involved in multiple physiological functions …

ABSTRACT Introduction: Tryptophan hydroxylase 2 (TPH2) is the key, rate-limiting enzyme
of serotonin (5-HT) synthesis in the brain. Some polymorphic variants of the human Tph2 …

Most pathogenic missense mutations cause specific molecular phenotypes through protein
destabilization. However, how protein destabilization is manifested as a given molecular …

Tyrosine hydroxylase (TH) is a multi‐domain, homo‐oligomeric enzyme that catalyses the
rate‐limiting step of catecholamine neurotransmitter biosynthesis. Missense variants of …

Introduction: Phenylketonuria (PKU) is an inborn metabolic disorder that affects
phenylalanine catabolism. Early diagnosis and prompt treatment initiation are crucial for …

The importance of nutrients in our diet is becoming increasingly recognized. From the
viewpoint of protein synthesis and other physiologic and metabolic functions, all amino acids …

More than 1280 variants in the phenylalanine hydroxylase (PAH) gene are responsible for a
broad spectrum of phenylketonuria (PKU) phenotypes. While the genotype-phenotype …

Background: Since antiquity, humanity has used medicinal plant preparations to cure its ills,
and, as research has progressed, new technologies have enabled more investigations on …

Hyperphenylalaninemia (HPA), an abnormal condition of phenylalanine metabolism, was
recently reported to be caused by DNAJC12 mutations. As the heat shock co-chaperone …