Unexpected evolutionary proximity of eukaryotic and cyanobacterial enzymes responsible for biosynthesis of retinoic acid and its oxidation [PDF]
, 2014 Biosynthesis of retinoic acid from retinaldehyde (retinal) is catalysed by an aldehyde dehydrogenase (ALDH) and its oxidation by cytochrome P450 enzymes (CYPs).
Gallagher, Connor +4 more
core +1 more source
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
Dynamic Regulation of Phenylalanine Hydroxylase by Simulated Redox Manipulation
PLoS ONE, 2012 Recent clinical studies revealed increased phenylalanine levels and phenylalanine to tyrosine ratios in patients suffering from infection, inflammation and general immune activity.
Julian E. Fuchs +6 more
semanticscholar +1 more source
Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]
, 2018 Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M +5 more
core
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase [PDF]
, 2017 Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are a group of genetic disorders predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene.
Csicsay, Frantisek +8 more
core +1 more source
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase
Proteins: Structure, Function, and Bioinformatics, 2012 A previous computational analysis of missense mutations linked to monogenic disease found a high proportion of missense mutations affect protein stability, rather than other aspects of protein structure and function.
Zhen Shi, Jenn W. Sellers, J. Moult
semanticscholar +1 more source
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. [PDF]
Hum Genomics, 2023 Zhang C +13 more
europepmc +1 more source
Molecular characteristics, phenotypic diversity and genotype-estimated therapeutic responsiveness of Serbian patients with phenylketonuria [PDF]
, 2014 Fenilketonurija (PKU) jeste retko metaboličko oboljenje koje se nasleđuje autozomalno recesivno. Uzrok PKU su mutacije u genu koji kodira za enzim fenilalanin-hidroksilazu (PAH). U ovom revijskom radu su opisane najznačajnije metode za detekciju mutacija
Karan-Đurašević, Teodora +2 more
core +1 more source
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
Genetics and Molecular Biology, 2012 The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children.
Yong-An Zhou +8 more
semanticscholar +1 more source
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China. [PDF]
Mol Biol Rep, 2022 Zhou J +6 more
europepmc +1 more source