Results 1 to 10 of about 165,999 (264)

Identification of the Allosteric Site for Phenylalanine in Rat Phenylalanine Hydroxylase. [PDF]

J Biol Chem, 2016
Liver phenylalanine hydroxylase (PheH) is an allosteric enzyme that requires activation by phenylalanine for full activity. The location of the allosteric site for phenylalanine has not been established. NMR spectroscopy of the isolated regulatory domain (RDPheH(25-117) is the regulatory domain of PheH lacking residues 1-24) of the rat enzyme in the ...
Zhang S, Fitzpatrick PF.
europepmc   +5 more sources

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria [PDF]

Journal of Medical Genetics, 2015
Background: In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment.
Danecka, Marta K., Feillet, Francois, Gersting, Søren W., Muntau, Ania C., Woidy, Mathias, Zschocke, Johannes   +5 more
core   +5 more sources

Conformational selection turns on phenylalanine hydroxylase. [PDF]

J Biol Chem, 2018
Phenylalanine hydroxylase catalyzes a critical step in the phenylalanine catabolic pathway, and impairment of the human enzyme is linked to phenylketonuria. Phenylalanine is also a positive allosteric regulator of the enzyme, and the allosteric binding site has been determined by crystallography.
Konovalov KA, Wang W, Huang X.
europepmc   +6 more sources

The Isoenzymes of Phenylalanine Hydroxylase in Humans [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977
Rebecca Newhouse, Charles E. Parker, John A. Barranger, Samuel P. Bessman   +3 more
openaire   +4 more sources

In Vivo Studies of Phenylalanine Hydroxylase by Phenylalanine Breath Test: Diagnosis of Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency [PDF]

Pediatric Research, 2004
Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test. Most cases of BH4-responsive PAH deficiency include mild phenylketonuria (PKU) or mild hyperphenylalaninemia (HPA), but not all patients with mild PKU respond to BH4.
Masahiro Kajiwara, Yoshiyuki Okano, Yasuaki Nishi, Yutaka Hase, Mie Kawajiri, Kazuhiko Takatori, Tsunekazu Yamano, Yoko Tanaka, Norio Sakai, Koji Inui   +9 more
openaire   +3 more sources

Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase [PDF]

Biochemical Journal, 1990
The laboratory mouse represents an important model for the study of phenylalanine metabolism and the pathochemistry of phenylketonuria, yet mouse phenylalanine hydroxylase (PAH) has not been extensively studied. We report the cloning and sequencing of a mouse PAH cDNA, the expression of enzymic activity from the mouse PAH cDNA clone and the ...
Fred D. Ledley, Savio L. C. Woo, Hernan E. Grenett, B S Dunbar   +3 more
openaire   +3 more sources

Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses [PDF]

, 2021
The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of
Abadie V., Acosta A., Aldámiz‐Echevarría L., Anderson P. J., Aoki K., Aulehla‐Scholz C., Berthelon M., Bickel H., Birk M. L., Blau N., Blau N., Blau N., Blau N., Blau N., Bonafé L., Bonyadi M., Borrajo G. J., Bueno M. A., Byck S., Camp K. M., Daniele A., Delgado P. C., Desviat L. R., Dianzani I., Donlon J., Drummond A. J., Dworniczak B., Dworniczak B., El‐Metwally A., Enacán R. E., Erlandsen H., Fölling A., Ghiasvand N. M., Giannattasio S., Giannattasio S., Giovannini M., Guldberg P., Guldberg P., Guldberg P., Guldberg P., Gundorova P., Guthrie R., Guthrie R., Gámez A., Güttler F., Habib A., Hamzehloei T., Harding C. O., Ichinose H., Jaruzelska J., Jiang J., Kayaalp E., Koochmeshgi J., Kostandyan N., Lilleväli H., Lilleväli H., Liu N., Loeber J. G., Madden M., Magalhães J., Magalhães J., Marcão A., Michals‐Matalon K., National Institutes of Health Consensus Development Panel, Okano Y., Osório R., Osório R. V., Ozalp I., Ozgüç M., Pangkanon S., Phenylketonuria, Pérez B., Rivera I., Rivera I., Rivera I., Santos L. L., Santos L. L., Scriver C. R., Scriver C. R., Smith I., Sousa R., Staudigl M., Sumaily K. M., Thöny B., Traeger‐Synodinos J., Trefz F. K., Vallian S., Vieira Neto E., Vieira Neto E., Vilarinho L., Vilarinho L., Vilarinho L., Vilarinho L., Walter J. H., Waters P. J., Wegberg A. M. J., Zare‐Karizi S. H., Zhan J. Y., Zschocke J., Zschocke J., Zschocke J., Zschocke J.   +101 more
core   +3 more sources

Tracking the Electron Transfer Cascade in European Robin Cryptochrome 4 Mutants [PDF]

, 2022
The primary step in the elusive ability of migratory birds to sense weak Earth-strength magnetic fields is supposedly the light-induced formation of a long-lived, magnetically sensitive radical pair inside a cryptochrome flavoprotein located in the retina of these birds.
arxiv   +1 more source

Sites of Biosynthesis of Outer and Inner Membrane Proteins of Neurospora crassa Mitochondria [PDF]

, 1970
Outer and inner membranes of Neurospora crassa mitochondria were separated by the combined swelling, shrinking, sonication procedure. Membranes were characterized by electron microscopy and by marker enzyme activities.
Aasen A. J., Arrigoni O., Beattie D. S., Beattie D. S., Beisenherz G., Cassady W. E., Goodwin T. W., Harding R. W., Hawley E. S., Neupert W., Parsons D., Schnaitman G., Schott H.-H., Vogel H. J., Weiss H.   +14 more
core   +1 more source

Comparative Roles of Charge, $π$ and Hydrophobic Interactions in Sequence-Dependent Phase Separation of Intrinsically Disordered Proteins [PDF]

Proc. Natl. Acad. Sci. U.S.A. 117, 28795-28805 (2020), 2020
Endeavoring toward a transferable, predictive coarse-grained explicit-chain model for biomolecular condensates underlain by liquid-liquid phase separation (LLPS), we conducted multiple-chain simulations of the N-terminal intrinsically disordered region (IDR) of DEAD-box helicase Ddx4, as a test case, to assess the roles of electrostatic, hydrophobic ...
arxiv   +1 more source