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Items: 1 to 20 of 110

1.
2.

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.

3.

[In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene].

Song F, Qu Y, Okano Y, Ye Z, Zhang Y, Jin Y, Wang H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):1-5. Chinese.

PMID:
18247293
4.

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
5.

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Shi Z, Sellers J, Moult J.

Proteins. 2012 Jan;80(1):61-70. doi: 10.1002/prot.23159. Epub 2011 Sep 21.

6.

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
7.

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
8.

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N.

Mol Genet Metab. 2011 Feb;102(2):116-21. doi: 10.1016/j.ymgme.2010.11.158. Epub 2010 Nov 18.

PMID:
21147011
9.

Phenylalanine hydroxylase: function, structure, and regulation.

Flydal MI, Martinez A.

IUBMB Life. 2013 Apr;65(4):341-9. doi: 10.1002/iub.1150. Epub 2013 Mar 4. Review.

10.

Computational study of missense mutations in phenylalanine hydroxylase.

Réblová K, Kulhánek P, Fajkusová L.

J Mol Model. 2015 Apr;21(4):70. doi: 10.1007/s00894-015-2620-6. Epub 2015 Mar 7.

PMID:
25750018
11.

Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

Polak E, Ficek A, Radvanszky J, Soltysova A, Urge O, Cmelova E, Kantarska D, Kadasi L.

Gene. 2013 Sep 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10.

PMID:
23764561
12.
13.

The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.

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

Mol Genet Metab. 2011;104 Suppl:S40-4. doi: 10.1016/j.ymgme.2011.07.024. Epub 2011 Jul 31. Review.

PMID:
21871828
14.

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR.

Am J Hum Genet. 1997 Dec;61(6):1309-17.

15.

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N.

Gene. 2016 Dec 5;594(1):138-143. doi: 10.1016/j.gene.2016.09.015. Epub 2016 Sep 13.

PMID:
27620137
16.

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.

Zekanowsk C, Perez B, Desviat LR, Wiszniewski W, Ugarte M.

Acta Biochim Pol. 2000;47(2):365-9.

17.

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
18.

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
19.

Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.

Kasnauskiene J, Cimbalistiene L, Kucinskas V.

Genetika. 2008 Oct;44(10):1397-403.

PMID:
19062537
20.

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS.

J Cell Biochem. 2014 Mar;115(3):566-74. doi: 10.1002/jcb.24692.

PMID:
24130151

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