Phenylketonuria (PKU; MIM 261600) is an inborn error of amino acid metabolism caused by reduced phenylalanine hydroxylase (PAH; EC 1.14.16.1) activity (Blau et al 2010). After the discover by Dr. Asbjørn Følling (Folling 1994), the first treatment approach was proposed by Dr. Horst Bickel in 1950s (Bickel et al 1953). Despite new therapies have recently emerged [large neutral amino acids (LNAA)...

Expansion of the genetic code through engineering the translation machinery has greatly increased the chemical repertoire of the proteome. This has been accomplished mainly by read-through of UAG or UGA stop codons by the noncanonical aminoacyl-tRNA of choice. While stop codon read-through involves competition with the translation release factors, sense codon reassignment entails competition wi...

BACKGROUND Decreasing the rate of protein emptying from the stomach may improve efficiency of utilization of dietary amino acids for protein deposition. Some studies in rats and humans have shown casein to be more slowly released from the stomach than whey protein. To test if casein induces a slower rate of gastric emptying in cats than whey protein, L-[1-(13)C]phenylalanine (Phe) was dosed ora...

Multiple-site-specific incorporation of a noncanonical amino acid into a recombinant protein would be a very useful technique to generate multiple chemical handles for bioconjugation and multivalent binding sites for the enhanced interaction. Previously combination of a mutant yeast phenylalanyl-tRNA synthetase variant and the yeast phenylalanyl-tRNA containing the AAA anticodon was used to inc...

Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene (12q22-q24) resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe) and production of the phenylketonuria (PKU) disease. To date there have been no reports on the molecular analysis of PKU in Iranian population. In this study, the states of the PKU dis...

We employ the achiral liquid chromatography with diode array, evaporative light scattering and mass spectrometric detection (HPLC-DAD, HPLC-ELSD and LC-MS) to assess structural instability (understood as spontaneous oscillatory chiral conversion and spontaneous oscillatory condensation) of the two pairs of amino acids, L-proline-L-phenylalanine (L-Pro-L-Phe) and L-hydroxyproline-L-phenylalanine...

BACKGROUND AND OBJECTIVES Untreated phenylketonuria (PKU), a hereditary metabolic disorder caused by a genetic mutation in phenylalanine hydroxylase (PAH), is characterized by elevated blood phenylalanine (Phe) and severe neurologic disease. Sapropterin dihydrochloride, a synthetic preparation of naturally occurring PAH cofactor tetrahydrobiopterin (BH4), activates residual PAH in a subset of p...

OBJECTIVE A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report. METHODS Enrolled pregnancies in which the untreated prepregnancy assigned phenylalanine level (APL) was no more than 600 micro mol/L were included in the Maternal PKU Collaborat...

glucagon like peptide-1; Ala: Alanine; Gly: Glycine; Pro: Proline; HTS: high-throughput screening; ESI: electrospray ionization; APCI: Atmospheric Pressure Chemical Ionization; pNA: p-nitroanilide; Asp: Aspartic acid; Thr: Threonine; Met: Methionine; Phe: Phenylalanine; Leu: Leucine; Ser: Serine; HOBT: Hydroxybenzotriazole ; EDCI: 1-ethyl-3-(3-dimethylaminopropyl)carbodiimide hydrochloride; Me:...

Nanofiber membranes for chiral separation were prepared from chitin, which is the most abundant natural amino polysaccharide. The membrane showed chiral separation ability by adopting concentration gradient as a driving force for membrane transport. In other words, the chitin nanofiber membrane selectively transported the D-isomer of glutamic acid (Glu), phenylalanine (Phe), and lysine (Lys) fr...