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Items: 1 to 20 of 236

1.

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.

3.

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.
6.

[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
8.

L-phenylalanine binding and domain organization in human phenylalanine hydroxylase: a differential scanning calorimetry study.

Thórólfsson M, Ibarra-Molero B, Fojan P, Petersen SB, Sanchez-Ruiz JM, Martínez A.

Biochemistry. 2002 Jun 18;41(24):7573-85.

PMID:
12056888
9.
10.

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
11.

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

Kim SW, Jung J, Oh HJ, Kim J, Lee KS, Lee DH, Park C, Kimm K, Koo SK, Jung SC.

Clin Chim Acta. 2006 Mar;365(1-2):279-87. Epub 2005 Oct 25.

PMID:
16253218
13.

Mutagenesis of the regulatory domain of phenylalanine hydroxylase.

Wang GA, Gu P, Kaufman S.

Proc Natl Acad Sci U S A. 2001 Feb 13;98(4):1537-42. Epub 2001 Feb 6.

14.

Superstoichiometric binding of L-Phe to phenylalanine hydroxylase from Caenorhabditis elegans: evolutionary implications.

Flydal MI, Mohn TC, Pey AL, Siltberg-Liberles J, Teigen K, Martinez A.

Amino Acids. 2010 Nov;39(5):1463-75. doi: 10.1007/s00726-010-0611-6. Epub 2010 May 18.

PMID:
20480196
15.

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
16.
17.

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.

19.
20.

Structural basis of autoregulation of phenylalanine hydroxylase.

Kobe B, Jennings IG, House CM, Michell BJ, Goodwill KE, Santarsiero BD, Stevens RC, Cotton RG, Kemp BE.

Nat Struct Biol. 1999 May;6(5):442-8.

PMID:
10331871

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