204 related articles for article (PubMed ID: 22644647)
1. The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
Sarkissian CN; Ying M; Scherer T; Thöny B; Martinez A
Hum Mutat; 2012 Oct; 33(10):1464-73. PubMed ID: 22644647
[TBL] [Abstract][Full Text] [Related]
2. Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.
Scherer T; Allegri G; Sarkissian CN; Ying M; Grisch-Chan HM; Rassi A; Winn SR; Harding CO; Martinez A; Thöny B
J Inherit Metab Dis; 2018 Jul; 41(4):709-718. PubMed ID: 29520738
[TBL] [Abstract][Full Text] [Related]
3. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Lagler FB; Gersting SW; Zsifkovits C; Steinbacher A; Eichinger A; Danecka MK; Staudigl M; Fingerhut R; Glossmann H; Muntau AC
Biochem Pharmacol; 2010 Nov; 80(10):1563-71. PubMed ID: 20705059
[TBL] [Abstract][Full Text] [Related]
4. The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study.
Pey AL; Martinez A
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S43-53. PubMed ID: 15936235
[TBL] [Abstract][Full Text] [Related]
5. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
Thöny B; Ding Z; Martínez A
FEBS Lett; 2004 Nov; 577(3):507-11. PubMed ID: 15556637
[TBL] [Abstract][Full Text] [Related]
6. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Gersting SW; Lagler FB; Eichinger A; Kemter KF; Danecka MK; Messing DD; Staudigl M; Domdey KA; Zsifkovits C; Fingerhut R; Glossmann H; Roscher AA; Muntau AC
Hum Mol Genet; 2010 May; 19(10):2039-49. PubMed ID: 20179079
[TBL] [Abstract][Full Text] [Related]
7. Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Kure S; Sato K; Fujii K; Aoki Y; Suzuki Y; Kato S; Matsubara Y
Mol Genet Metab; 2004; 83(1-2):150-6. PubMed ID: 15464429
[TBL] [Abstract][Full Text] [Related]
8. Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
Matalon R; Michals-Matalon K; Koch R; Grady J; Tyring S; Stevens RC
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S17-21. PubMed ID: 16143554
[TBL] [Abstract][Full Text] [Related]
9. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
Fiori L; Fiege B; Riva E; Giovannini M
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137
[TBL] [Abstract][Full Text] [Related]
10. A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia.
Sarkissian CN; Boulais DM; McDonald JD; Scriver CR
Mol Genet Metab; 2000 Mar; 69(3):188-94. PubMed ID: 10767173
[TBL] [Abstract][Full Text] [Related]
11. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
Spaapen LJ; Rubio-Gozalbo ME
Mol Genet Metab; 2003 Feb; 78(2):93-9. PubMed ID: 12618080
[TBL] [Abstract][Full Text] [Related]
12. A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
Steinfeld R; Kohlschütter A; Ullrich K; Lukacs Z
Amino Acids; 2003 Jul; 25(1):63-8. PubMed ID: 12836060
[TBL] [Abstract][Full Text] [Related]
13. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Ponzone A; Porta F; Mussa A; Alluto A; Ferraris S; Spada M
Metabolism; 2010 May; 59(5):645-52. PubMed ID: 19913839
[TBL] [Abstract][Full Text] [Related]
14. In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model.
Gunasekera RS; Hyland K
Mol Genet Metab; 2009 Nov; 98(3):264-72. PubMed ID: 19560382
[TBL] [Abstract][Full Text] [Related]
15. Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Heintz C; Troxler H; Martinez A; Thöny B; Blau N
Mol Genet Metab; 2012 Apr; 105(4):559-65. PubMed ID: 22300847
[TBL] [Abstract][Full Text] [Related]
16. The S-oxidation of S-carboxymethyl-L-cysteine in hepatic cytosolic fractions from BTBR and phenylketonuria enu1 and enu2 mice.
Steventon GB; Mitchell SC
Xenobiotica; 2019 Apr; 49(4):495-502. PubMed ID: 29648495
[TBL] [Abstract][Full Text] [Related]
17. Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice.
Harding CO; Neff M; Jones K; Wild K; Wolff JA
J Gene Med; 2003 Nov; 5(11):984-93. PubMed ID: 14601136
[TBL] [Abstract][Full Text] [Related]
18. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
Shintaku H; Kure S; Ohura T; Okano Y; Ohwada M; Sugiyama N; Sakura N; Yoshida I; Yoshino M; Matsubara Y; Suzuki K; Aoki K; Kitagawa T
Pediatr Res; 2004 Mar; 55(3):425-30. PubMed ID: 14681498
[TBL] [Abstract][Full Text] [Related]
19. Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Eichinger A; Danecka MK; Möglich T; Borsch J; Woidy M; Büttner L; Muntau AC; Gersting SW
Hum Mol Genet; 2018 May; 27(10):1732-1742. PubMed ID: 29514280
[TBL] [Abstract][Full Text] [Related]
20. Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.
Scavelli R; Ding Z; Blau N; Haavik J; Martínez A; Thöny B
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S153-5. PubMed ID: 16290004
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
