Works matching DE "PHENYLALANINE hydroxylase"

Results: 70

Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.

Published in:

2017

By:

Nardecchia, Francesca;
Valentini, Giulia;
Leuzzi, Vincenzo;
Chiarotti, Flavia;
Carducci, Claudia;
Santagata, Silvia;
Angeloni, Antonio;
Blau, Nenad

Publication type:

journal article

Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations.

Published in:

Aging & Disease, 2015, v. 6, n. 5, p. 390, doi. 10.14336/AD.2015.0827

By:

Schuck, Patrícia Fernanda;
Malgarin, Fernanda;
Cararo, José Henrique;
Cardoso, Fabiola;
Streck, Emilio Luiz;
Ferreira, Gustavo Costa

Publication type:

Article

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Published in:

PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0211048

By:

Gundorova, Polina;
Stepanova, Anna A.;
Kuznetsova, Irina A.;
Kutsev, Sergey I.;
Polyakov, Aleksander V.

Publication type:

Article

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201489

By:

Gundorova, Polina;
Zinchenko, Rena A.;
Kuznetsova, Irina A.;
Bliznetz, Elena A.;
Stepanova, Anna A.;
Polyakov, Aleksander V.

Publication type:

Article

The S-oxidation of S-carboxymethyl-L-cysteine in hepatic cytosolic fractions from BTBR and phenylketonuria enu1 and enu2 mice.

Published in:

Xenobiotica, 2019, v. 49, n. 4, p. 495, doi. 10.1080/00498254.2018.1464684

By:

Steventon, Glyn B.;
Mitchell, Stephen C.

Publication type:

Article

Impaired Systemic Tetrahydrobiopterin Bioavailability and Increased Dihydrobiopterin in Adult Falciparum Malaria: Association with Disease Severity, Impaired Microvascular Function and Increased Endothelial Activation.

Published in:

PLoS Pathogens, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.ppat.1004667

By:

Yeo, Tsin W.;
Lampah, Daniel A.;
Kenangalem, Enny;
Tjitra, Emiliana;
Price, Ric N.;
Weinberg, J. Brice;
Hyland, Keith;
Granger, Donald L.;
Anstey, Nicholas M.

Publication type:

Article

Organic anion transporters, OAT1 and OAT3, are crucial biopterin transporters involved in bodily distribution of tetrahydrobiopterin and exclusion of its excess.

Published in:

Molecular & Cellular Biochemistry, 2017, v. 435, n. 1/2, p. 97, doi. 10.1007/s11010-017-3060-7

By:

Ohashi, Akiko;
Mamada, Kaori;
Harada, Tomonori;
Naito, Masako;
Takahashi, Tomihisa;
Aizawa, Shin;
Hasegawa, Hiroyuki

Publication type:

Article

An additional substrate binding site in a bacterial phenylalanine hydroxylase.

Published in:

European Biophysics Journal, 2013, v. 42, n. 9, p. 691, doi. 10.1007/s00249-013-0919-8

By:

Ronau, Judith;
Paul, Lake;
Fuchs, Julian;
Corn, Isaac;
Wagner, Kyle;
Liedl, Klaus;
Abu-Omar, Mahdi;
Das, Chittaranjan

Publication type:

Article

FENILCETONÚRIA: UMA REVISÃO DE LITERATURA.

Published in:

Electronic Journal of Pharmacy / Revista Eletrônica de Farmácia, 2014, v. 11, n. 4, p. 27, doi. 10.5216/ref.v11i4.31258

By:

Porto Ascenso Rosa, Ruy Roberto

Publication type:

Article

Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study.

Published in:

Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00360

By:

Taslimifar, Mehdi;
Buoso, Stefano;
Verrey, Francois;
Kurtcuoglu, Vartan

Publication type:

Article

Phenylalanine hydroxylase: Function, structure, and regulation.

Published in:

IUBMB Life, 2013, v. 65, n. 4, p. 341, doi. 10.1002/iub.1150

By:

Flydal, Marte I.;
Martinez, Aurora

Publication type:

Article

Association of Mitochondrial DNA Variants and Cognitive Impairment of Phenylketonuria Patients / POVEZANOST VARIJANTI U MITOHONDRIJALNOJ DNK I KOGNITIVNOG FENOTIPA KOD PACIJENATA SA FENILKETONURIJOM.

Published in:

Journal of Medical Biochemistry, 2013, v. 32, n. 4, p. 347, doi. 10.2478/jomb-2013-0046

By:

Klaassen, Kristel;
Đordevič, Maja;
Petrov, Maja Stojiljkovič;
Pavlović, Sonja

Publication type:

Article

Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079482

By:

Carluccio, Carla;
Fraternali, Franca;
Salvatore, Francesco;
Fornili, Arianna;
Zagari, Adriana

Publication type:

Article

Dynamic Regulation of Phenylalanine Hydroxylase by Simulated Redox Manipulation.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0053005

By:

Fuchs, Julian E.;
Huber, Roland G.;
von Grafenstein, Susanne;
Wallnoefer, Hannes G.;
Spitzer, Gudrun M.;
Fuchs, Dietmar;
Liedl, Klaus R.

Publication type:

Article

Phenylalanine Hydroxylase from Legionella pneumophila Is a Thermostable Enzyme with a Major Functional Role in Pyomelanin Synthesis.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046209

By:

Flydal, Marte I.;
Chatfield, Christa H.;
Huaixin Zheng;
Gunderson, Felizza F.;
Aubi, Oscar;
Cianciotto, Nicholas P.;
Martinez, Aurora;
Zamboni, Dario S.

Publication type:

Article

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults.

Published in:

Behavioral & Brain Functions, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1744-9081-9-30

By:

Teraishi, Toshiya;
Sasayama, Daimei;
Hori, Hiroaki;
Yamamoto, Noriko;
Fujii, Takashi;
Matsuo, Junko;
Nagashima, Anna;
Kinoshita, Yukiko;
Hattori, Kotaro;
Ota, Miho;
Fujii, Sayaka;
Kunugi, Hiroshi

Publication type:

Article

Experiencia con sapropterina en pacientes mexicanos con hiperfenilalaninemia.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 331

By:

Monroy-Santoyo, Susana;
Belmont-Martínez, Leticia;
Fernández-Lainez, Cynthia;
Guillén-López, Sara;
Ibarra-González, Isabel;
Rodríguez-Schmidt, Romina;
Vela-Amieva, Marcela

Publication type:

Article

Aspectos generales y panorama actual del estudio molecular de la fenilcetonuria (PKU) en México.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 324

By:

Alcántara-Ortigoza, Miguel Ángel;
García-de Teresa, Benilde;
Barrientos-Ríos, Rehotbevely;
González-del Ángel, Ariadna

Publication type:

Article

Differences and Comparisons of the Properties and Reactivities of Iron(III)-hydroperoxo Complexes with Saturated Coordination Sphere.

Published in:

Chemistry - A European Journal, 2015, v. 21, n. 3, p. 1221, doi. 10.1002/chem.201404918

By:

Faponle, Abayomi S.;
Quesne, Matthew G.;
Sastri, Chivukula V.;
Banse, Frédéric;
de Visser, Sam P.

Publication type:

Article

IN SILICO APPROACHES ON PHENYLALANINE HYDROXYLASE INHIBITOR-RELATED COMPOUNDS USED IN PARKINSON'S DISEASE TREATMENT.

Published in:

Journal of Faculty of Pharmacy of Ankara University / Ankara Üniversitesi Eczacilik Fakültesi Dergisi, 2024, v. 48, n. 2, p. 513, doi. 10.33483/jfpau.1380350

By:

AKKAYA, Hatice;
SÜMER, Engin

Publication type:

Article

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 145, doi. 10.1038/jhg.2013.136

By:

Liang, Ying;
Huang, Miao-Zeng;
Cheng, Cheng-Yi;
Chao, Hung-Kun;
Fwu, Victor Tramjay;
Chiang, Szu-Hui;
Hsiao, Kwang-Jen;
Niu, Dau-Ming;
Su, Tsung-Sheng

Publication type:

Article

Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.

Published in:

2018

By:

Zhang, Zhan;
Gao, Jun-Jun;
Feng, Yang;
Zhu, Lin-Lin;
Yan, Huan;
Shi, Xu-Feng;
Chang, Ai-Min;
Shi, Ying;
Wang, Ping

Publication type:

journal article

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 247, doi. 10.1111/cge.12692

By:

Bayat, A.;
Yasmeen, S.;
Lund, A.;
Nielsen, J.B.;
Møller, L.B.

Publication type:

Article

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH<sub>4</sub> responsiveness and evidence of a founder effect.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 62, doi. 10.1111/cge.12444

By:

Vela‐Amieva, M.;
Abreu‐González, M.;
González‐del Angel, A.;
Ibarra‐González, I.;
Fernández‐Lainez, C.;
Barrientos‐Ríos, R.;
Monroy‐Santoyo, S.;
Guillén‐López, S.;
Alcántara‐Ortigoza, M.A.

Publication type:

Article

Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt.

Published in:

Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 3, p. 293, doi. 10.1016/j.ejmhg.2013.03.001

By:

Sadek, Abdelrahim A.;
Emam, Ahmed M.;
Alhaggagy, Mostafa Y.

Publication type:

Article

Computational study of missense mutations in phenylalanine hydroxylase.

Published in:

Journal of Molecular Modeling, 2015, v. 21, n. 4, p. 1, doi. 10.1007/s00894-015-2620-6

By:

Réblová, Kamila;
Kulhánek, Petr;
Fajkusová, Lenka

Publication type:

Article

Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

Published in:

Journal of Genetics, 2012, v. 91, n. 1, p. 91, doi. 10.1007/s12041-012-0140-z

By:

KHEMIR, SAMEH;
SIALA, HAJER;
TAIEB, SAMEH;
CHERIF, WAFA;
AZZOUZ, HATEM;
KÉFI, RYM;
ABDELHAK, SONIA;
KHOUJA, NAZIHA;
TEBIB, NEJI;
MASSAOUD, TAIEB;
DRIDI, MARIE;
KAABACHI, NAZIHA

Publication type:

Article

Quantitative analysis by flow cytometry of green fluorescent protein-tagged human phenylalanine hydroxylase expressed in Dictyostelium.

Published in:

Pteridines, 2017, v. 28, n. 3/4, p. 153, doi. 10.1515/pterid-2017-0015

By:

Hye-Lim Kim;
Hyun-Chul Ryu;
Young Shik Park

Publication type:

Article

Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.

Published in:

PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183430

By:

Fiori, Elena;
Oddi, Diego;
Ventura, Rossella;
Colamartino, Marco;
Valzania, Alessandro;
D’Amato, Francesca Romana;
Bruinenberg, Vibeke;
van der Zee, Eddy;
Puglisi-Allegra, Stefano;
Pascucci, Tiziana

Publication type:

Article

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.

Published in:

2017

By:

Muntau, Ania C.;
Burlina, Alberto;
Eyskens, François;
Freisinger, Peter;
De Laet, Corinne;
Leuzzi, Vincenzo;
Rutsch, Frank;
Sivri, H. Serap;
Vijay, Suresh;
Bal, Milva Orquidea;
Gramer, Gwendolyn;
Pazdírková, Renata;
Cleary, Maureen;
Lotz-Havla, Amelie S.;
Munafo, Alain;
Mould, Diane R.;
Moreau-Stucker, Flavie;
Rogoff, Daniela

Publication type:

journal article

FOURTEEN YEARS OF NEWBORN SCREENING FOR PHENYLKETONURIA IN VOJVODINA.

Published in:

Medical Review / Medicinski Pregled, 2017, v. 70, n. 11/12, p. 411, doi. 10.2298/MPNS1712411K

By:

KAVEČAN, Ivana;
JOVANOVIĆ, Jadranka;
PRIVRODSKI, Boris;
OBRENOVIĆ, Milan;
MUDRINIĆ, Tatjana REDŽEK

Publication type:

Article

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71361-8

By:

Weng, Hui-Ling;
Yang, Feng-Jung;
Chen, Pey-Rong;
Hwu, Wuh-Liang;
Lee, Ni-Chung;
Chien, Yin-Hsiu

Publication type:

Article

Substituting Tyr<sup>138</sup> in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation.

Published in:

FEBS Open Bio, 2017, v. 7, n. 7, p. 1026, doi. 10.1002/2211-5463.12243

By:

Leandro, João;
Stokka, Anne J.;
Teigen, Knut;
Andersen, Ole A.;
Flatmark, Torgeir

Publication type:

Article

Structural and thermodynamic insight into phenylalanine hydroxylase from the human pathogen Legionella pneumophila.

Published in:

FEBS Open Bio, 2013, v. 3, p. 370, doi. 10.1016/j.fob.2013.08.006

By:

Leiros, Hanna-Kirsti S.;
Flydal, Marte Innselset;
Martinez, Aurora

Publication type:

Article

Structural and thermodynamic insight into phenylalanine hydroxylase from the human pathogen Legionella pneumophila.

Published in:

FEBS Open Bio, 2013, v. 3, n. 1, p. 370, doi. 10.1016/j.fob.2013.08.006

By:

Leiros, Hanna-Kirsti S.;
Flydal, Marte Innselset;
Martinez, Aurora

Publication type:

Article

Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.

Published in:

Iranian Journal of Basic Medical Sciences, 2015, v. 18, n. 7, p. 649

By:

Bagheri, Morteza;
Rad, Isa Abdi;
Jazani, Nima Hosseini;
Zarrin, Rasoul;
Ghazavi, Ahad

Publication type:

Article

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 3, p. 302, doi. 10.1038/ejhg.2014.114

By:

Wettstein, Sarah;
Underhaug, Jarl;
Perez, Belen;
Marsden, Brian D;
Yue, Wyatt W;
Martinez, Aurora;
Blau, Nenad

Publication type:

Article

Importancia del diagnóstico precoz de fenilcetonuria en la mujer y del control de 10s niveles de fenilalanina en la gestación.

Published in:

2012

By:

Arrieta Blanco, F.;
Bélanger Quintana, A.;
Vázquez Martínez, C.;
Martínez Pardo, M.

Publication type:

Case Study

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.

Published in:

Jornal de Pediatria, 2011, v. 87, n. 3, p. 245, doi. 10.2223/JPED.2090

By:

Giugliani, Luciana;
Sitta, Angela;
Vargas, Carmen R.;
Santana-da-Silva, Luiz C.;
Nalin, Tatiéle;
Saraiva-Pereira, Maria Luiza;
Giugliani, Roberto;
Schwartz, Ida Vanessa D.

Publication type:

Article

The carrier rate of the phenylalanine hydoxylase gene ( PAH) mutations p.Arg408Trp, pArg261Gln, and p.Arg261X in the populations of Eurasia.

Published in:

Russian Journal of Genetics, 2017, v. 53, n. 8, p. 910, doi. 10.1134/S1022795417060023

By:

Akhmetova, V.;
Khusainova, R.;
Litvinov, S.;
Khusnutdinova, E.

Publication type:

Article

Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness.

Published in:

Russian Journal of Genetics, 2017, v. 53, n. 6, p. 712, doi. 10.1134/S1022795417060060

By:

Gundorova, P.;
Stepanova, A.;
Bushueva, T.;
Belyashova, E.;
Zinchenko, R.;
Amelina, S.;
Kutsev, S.;
Polyakov, A.

Publication type:

Article

EVALUATION OF TETRAHYDROBIOPTERIN (BH4), DIHYDROPTERIDINE REDUCTASE (DHPR), PHENYLALANINE HYDROXYLASE (PAH) AND MATRIX METALLOPROTEINASE-17 (MMP17) IN HYPERTENSIVE STROKE PATIENTS IN BASRAH.

Published in:

Biochemical & Cellular Archives, 2021, v. 21, n. 2, p. 3215

By:

Jewad, Abdulkareem M.;
Jihad, Ibrahim A.

Publication type:

Article

Caracterização genético-clínica de pacientes com fenilcetonúria no Estado de Alagoas.

Published in:

Scientia Medica, 2012, v. 22, n. 2, p. 64

By:

de Santana Santos, Emerson;
Almeida Rocha, Maria Alzira;
da Silva Oliveira, Helen Mayara Nunes;
Costa, Doriane;
Amorim, Tatiana;
Xavier Acosta, Angelina

Publication type:

Article

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1496, doi. 10.1177/0883073812457591

By:

Medici, Conrado;
Varacchi, Claudio;
Gonzalez, Gabriel;
Lemes, Aida;
Cerisola, Alfredo;
Pedemonte, Virginia;
Blau, Nenad

Publication type:

Article

Dictyostelium phenylalanine hydroxylase is activated by its substrate phenylalanine

Published in:

FEBS Letters, 2012, v. 586, n. 20, p. 3596, doi. 10.1016/j.febslet.2012.09.008

By:

Kim, Hye-Lim;
Park, Mi-Bee;
Kim, Yumin;
Yang, Yun Gyeong;
Lee, Soo-Woong;
Zhuang, Ningning;
Lee, Kon Ho;
Park, Young Shik

Publication type:

Article

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site.

Published in:

PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007360

By:

Martínez-Pizarro, Ainhoa;
Dembic, Maja;
Pérez, Belén;
Andresen, Brage S.;
Desviat, Lourdes R.

Publication type:

Article

An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria.

Published in:

Cell Journal (Yakhteh), 2016, v. 18, n. 2, p. 229

By:

Talebi, Saeed;
Entezam, Mona;
Mohajer, Neda;
Kazemi-Sefat, Golnaz-Ensieh;
Razipour, Masoumeh;
Ahmadloo, Somayeh;
Setoodeh, Aria;
Keramatipour, Mohammad

Publication type:

Article

Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.

Published in:

International Journal of Preventive Medicine, 2017, v. 8, n. 1, p. 1, doi. 10.4103/ijpvm.IJPVM_378_16

By:

Zamanfar, Daniel;
Jalali, Hossein;
Mahdavi, Mohammad Reza;
Maadanisani, Morteza;
Zaeri, Hossein;
Asadpoor, Eynollah

Publication type:

Article

Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.

Published in:

Maedica - a Journal of Clinical Medicine, 2015, v. 10, n. 4, p. 310

By:

BAGHERI, Morteza;
RAD, Isa Abdi;
JAZANI, Nima Hosseini;
ZARRIN, Rasoul;
GHAZAVI, Ahad

Publication type:

Article

Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.

Published in:

Maedica - a Journal of Clinical Medicine, 2014, v. 9, n. 3, p. 242

By:

BAGHERI, Morteza;
RAD, Isa Abdi;
JAZANI, Nima Hosseini;
ZARRIN, Rasoul;
GHAZAVI, Ahad

Publication type:

Article