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Items: 1 to 20 of 201

1.

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC.

Am J Hum Genet. 2008 Jul;83(1):5-17. doi: 10.1016/j.ajhg.2008.05.013. Epub 2008 Jun 5.

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Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.

Gersting SW, Staudigl M, Truger MS, Messing DD, Danecka MK, Sommerhoff CP, Kemter KF, Muntau AC.

J Biol Chem. 2010 Oct 1;285(40):30686-97. doi: 10.1074/jbc.M110.124016. Epub 2010 Jul 27.

4.

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

Pey AL, Pérez B, Desviat LR, Martínez MA, Aguado C, Erlandsen H, Gámez A, Stevens RC, Thórólfsson M, Ugarte M, Martínez A.

Hum Mutat. 2004 Nov;24(5):388-99.

PMID:
15459954
5.

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 15;19(10):2039-49. doi: 10.1093/hmg/ddq085. Epub 2010 Feb 23.

6.

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

Dobrowolski SF, Pey AL, Koch R, Levy H, Ellingson CC, Naylor EW, Martinez A.

J Inherit Metab Dis. 2009 Feb;32(1):10-21. doi: 10.1007/s10545-008-0942-6. Epub 2008 Oct 21.

PMID:
18937047
7.

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 15;80(10):1563-71. doi: 10.1016/j.bcp.2010.07.042. Epub 2010 Aug 10.

PMID:
20705059
8.

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P.

Mol Genet Metab. 2001 May;73(1):104-6. Erratum in: Mol Genet Metab 2001 Dec;74(4):500.

PMID:
11350190
9.

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

Muntau AC, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA.

N Engl J Med. 2002 Dec 26;347(26):2122-32.

10.

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.

Waters PJ, Parniak MA, Akerman BR, Scriver CR.

Mol Genet Metab. 2000 Feb;69(2):101-10. Erratum in: Mol Genet Metab 2001 Jan;72(1):89.

PMID:
10720436
11.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

Spaapen LJ, Rubio-Gozalbo ME.

Mol Genet Metab. 2003 Feb;78(2):93-9. Review.

PMID:
12618080
12.

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

Pey AL, Desviat LR, Gámez A, Ugarte M, Pérez B.

Hum Mutat. 2003 Apr;21(4):370-8.

PMID:
12655546
13.

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.

Staudigl M, Gersting SW, Danecka MK, Messing DD, Woidy M, Pinkas D, Kemter KF, Blau N, Muntau AC.

Hum Mol Genet. 2011 Jul 1;20(13):2628-41. doi: 10.1093/hmg/ddr165. Epub 2011 Apr 28.

14.

Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.

Leandro J, Simonsen N, Saraste J, Leandro P, Flatmark T.

Biochim Biophys Acta. 2011 Jan;1812(1):106-20. doi: 10.1016/j.bbadis.2010.09.015. Epub 2010 Oct 16.

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Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Trefz FK, Scheible D, Götz H, Frauendienst-Egger G.

J Inherit Metab Dis. 2009 Feb;32(1):22-6. doi: 10.1007/s10545-008-0940-8. Epub 2008 Oct 30.

PMID:
18956252
18.

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.

PMID:
12836060
19.

Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.

Gjetting T, Petersen M, Guldberg P, Güttler F.

Am J Hum Genet. 2001 Jun;68(6):1353-60. Epub 2001 Apr 20.

20.

Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.

Erlandsen H, Patch MG, Gamez A, Straub M, Stevens RC.

Pediatrics. 2003 Dec;112(6 Pt 2):1557-65. Review.

PMID:
14654665
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