THz to far-infrared spectra of the known crystal polymorphs of Phenylalanine [PDF]
There is renewed interest in the structure of the essential amino acid Phenylalanine in the solid state. Three new polymorphs were found in the years 2012 to 2014. Here, we investigate the structure, stability, and energetical ordering of these phases using first-principles simulations at the level of Density Functional Theory incorporating van-der ...
arxiv +1 more source
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin-responsive hyperphenylalaninemia [PDF]
The natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis. BH4-responsive PAH deficiency is a variant of hyperphenylalaninemia or phenylketonuria (PKU) caused
Ding, Zhaobing+2 more
core +1 more source
Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase
Phenylalanine hydroxylase (PAH) catalyzes the conversion of L-Phe to L-Tyr. Defects in PAH activity, caused by mutations in the human gene, result in the autosomal recessively inherited disease hyperphenylalaninemia. PAH activity is regulated by multiple
C. Carluccio+4 more
semanticscholar +1 more source
Ultrafast Charge Migration in XUV Photoexcited Phenylalanine: a First-Principles Study Based on Real-Time Nonequilibrium Green's Functions [PDF]
The early stage density oscillations of the electronic charge in molecules irradiated by an attosecond XUV pulse takes place on femto- or subfemtosecond timescales. This ultrafast charge migration process is a central topic in attoscience as it dictates the relaxation pathways of the molecular structure.
arxiv
Challenges in the management of Phenylketonuria in Malta [PDF]
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core
Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego+8 more
core +2 more sources
Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]
Fenilketonurija (PKU) najčešći je urođeni metabolički poremećaj u populaciji belaca (1/10000). Fenilketonurija nastaje kao posledica više od 500 mutacija u genu za fenilalanin hidroksilazu (PAH) koje dovode do deficijencije u aktivnosti enzima ...
Pavlović, Sonja, Stojiljković, Maja
core +1 more source
Modeling the dynamics of hypoxia inducible factor-1α (HIF-1α) within single cells and 3D cell culture systems [PDF]
HIF (Hypoxia Inducible Factor) is an oxygen-regulated transcription factor that mediates the intracellular response to hypoxia in human cells. There is increasing evidence that cell signaling pathways encode temporal information, and thus cell fate may be determined by the dynamics of protein levels.
arxiv
Isolation and mapping of a C3'H gene (CYP98A49) from globe artichoke, and its expression upon UV-C stress [PDF]
Globe artichoke represents a natural source of phenolic compounds with dicaffeoylquinic acids along with their biosynthetic precursor chlorogenic acid (5-caffeoylquinic acid) as the predominant molecules. We report the isolation and characterization of a
Acquadro, A.+6 more
core +2 more sources
From building blocks of proteins to drugs: A quantum chemical study on structure-property relationships of phenylalanine, tyrosine and dopa [PDF]
Density functional theory and ab initio methods have been employed to address the impacts of hydroxyl (OH) group substitutions on the physico-chemical properties of levodopa (or L-dopa) against the natural amino acids, phenylalanine and tyrosine. L-dopa, which is an important therapeutic drug for Parkinson's disease, shares structural homology with the
arxiv