Citations for
1PAH, PKU
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 285(40):30686-97. Epub 2010 Jul 27.PMID: 20667834 2010
2PAH, PKU
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.
Dobrowolski SF, Andersen HS, Doktor TK, Andresen BS.
Mol Genet Metab 100(4):316-23. Epub 2010 Apr 14.PMID: 20457534 2010
3PAH, PKU
Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
Zhu T, Qin S, Ye J, Qiu W, Han L, Zhang Y, Gu X.
Pediatr Res 67(3):280-5.PMID: 19915519 2010
4PAH, PKU
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase.
Roato I, Porta F, Mussa A, D'Amico L, Fiore L, Garelli D, Spada M, Ferracini R.
PLoS One 5(11):e14167.PMID: 21152388 2010
5PAH, PKU
BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
Singh RH, Quirk ME, Douglas TD, Brauchla MC.
J Inherit Metab Dis 33(6):689-95. Epub 2010 Oct 13.PMID: 20941642 2010
6PAH, PKU
Variations in genotype-phenotype correlations in phenylketonuria patients.
Santos LL, Fonseca CG, Starling AL, Januário JN, Aguiar MJ, Peixoto MG, Carvalho MR.
Genet Mol Res 9(1):1-8.PMID: 20082265 2010
7PAH, PKU
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 32(1):10-21. Epub 2008 Oct 21.PMID: 18937047 2009
8PAH, PKU
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.
Steventon GB, Mitchell SC, Pérez B, Desviat LR, Ugarte M.
Mol Genet Metab 96(1):27-31. Epub 2008 Nov 25.PMID: 19036622 2009
9PAH, PKU
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Bercovich D, Elimelech A, Zlotogora J, Korem S, Yardeni T, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y.
J Hum Genet 53(5):407-18. Epub 2008 Feb 26. 2008
10PAH, PKU
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
Kasnauskiene J, Cimbalistiene L, Kucinskas V.
Genetika 44(10):1397-403.PMID: 19062537 2008
11PAH, PKU
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 83(1):5-17. Epub 2008 Jun 5.PMID: 18538294 2008
12PKU, PAH
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
Pey AL, Stricher F, Serrano L, Martinez A.
Am J Hum Genet 81(5):1006-24. Epub 2007 Oct 2. 2007
13PAH, PKU
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL.
Mol Genet Metab 91(3):218-27. Epub 2007 May 14.PMID: 17502162 2007
14PAH
The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.
Lüleyap HU, Alptekin D, Pazarbaşi A, Kasap M, Kasap H, Demirhindi H, Mungan N, Ozer G, Froster UG.
Mutat Res 601(1-2):39-45. Epub 2006 Jun 12.PMID: 16765994 2006
15PAH
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
Thöny B, Ding Z, Martínez A.
FEBS Lett 577(3):507-11.PMID: 15556637 2004
16PAH
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C.
Hum Mutat 21(4):333-44. Review. 2003
17PAH
Studies on the regulatory properties of the pterin cofactor and dopamine bound at the active site of human phenylalanine hydroxylase.
Solstad T, Stokka AJ, Andersen OA, Flatmark T.
Eur J Biochem 270(5):981-90.PMID: 12603331 2003
18PAH
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
Chen KJ, Chao HK, Hsiao KJ, Su TS.
Hum Genet 110(3):235-43. 2002
19PAH, PKU
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.
Gjetting T, Petersen M, Guldberg P, Guttler F.
Am J Hum Genet 68(6):1353-60. Epub 2001 Apr 20. 2001
20PAH
The kidney is an important site for in vivo phenylalanine-to-tyrosine conversion in adult humans: A metabolic role of the kidney.
Moller N, Meek S, Bigelow M, Andrews J, Nair KS.
Proc Natl Acad Sci U S A 97(3):1242-6. 2000
21PAH, PKU
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 69(2):101-10. Erratum in: Mol Genet Metab 2001 Jan;72(1):89. 2000
22PAH, PKU
The Structural Basis of Phenylketonuria.
Erlandsen H, et al.
Mol Genet Metab 68(2):103-125 1999
23PAH, PKU
A European multicenter study of phenylalanine hydroxylase deficiency : classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P, et al.
Am J Hum Genet 63 : 71-79. 1998
24PAH, PKU
Phenylalanine hydroxylase gene mutations in the United States : report from the Maternal PKU Collaborative Study.
Guldberg P, et al.
Am J Hum Genet 59 : 84-94. 1996
25PAH, PKU
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland : frequent mutation allows screening and early diagnosis.
Zschocke J, et al.
Hum Mutat 4 : 114-118. 1994
26PAH, PKU
Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
Kleiman S, et al.
Hum Mol Genet 2 : 605-606. 1993
27PAH, PKU
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.
Goltsov AA, et al.
Hum Mol Genet 2 : 577-581. 1993
28PAH, PKU
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
Guldberg P, et al.
Hum Mol Genet 2 : 1061-1062. 1993
29PAH
Molecular analysis of phenylketonuria in Denmark : 99% of the mutations detected by denaturating gradient gel electrophoresis.
Guldberg P, et al.
Genomics 17 : 141-146. 1993
30PAH, PKU
Presence of the Mediterranean PKU mutation IVS10 in Latin America.
Perez B, et al.
Hum Mol Genet 2 : 1289-1290. 1993
31PAH, PKU
Phenylalanine hydroxylase gene : a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
Zygulska M, et al.
Hum Mutat 2 : 238-239. 1993
32PAH, PKU
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Abadie V, et al.
Hum Mol Genet 2 : 31-34. 1993
33PAH
Detection of the Xmnl RFLP at the human PAH locus by PCR.
Goltsov AA, et al.
Nucleic Acids Res 20 : 927. 1992
34PAH, PKU
Identification of three novel missense PKU mutations among Chinese.
Li J, et al.
Genomics 13 : 894-895. 1992
35PAH, PKU
Molecular basis of phenylketonuria and related hyperphenylalaninemias : mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Eisensmith RC, et al.
Hum Mutat 1 : 13-23. 1992
36PAH
Molecular basis for nonphenylketonuria hyperphenylalaninemia.
Economou-Petersen E, et al.
Genomics 14 : 1-5. 1992
37PAH
Associations between mutations and a VNRT in the human phenylalanine hydroxylase gene.
Goltsov AA, et al.
Am J Hum Genet 51 : 627-636. 1992
38PAH, PKU
Time and space clusters of the French-Canadian MIV phenylketonuria mutation in France.
Lyonnet S, et al.
Am J Hum Genet 51 : 191-196. 1992
39PAH
PCR detection of the BgIII RFLP at the human phenylalanine hydroxylase (PAH) locus.
Dworniczak B, et al.
Nucleic Acids Res 19 : 1958. 1991
40PAH
PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.
Wedemeyer N, et al.
Nucleic Acids Res 19 : 1959. 1991
41PAH
Molecular characterization of PKU allele prevalent in southern Europe and Ireland.
Dasovich M, et al.
Somat Cell Mol Genet 17 : 303-309. 1991
42PAH
The phenylketonuria locus : current knowledge about alleles and mutations of phenylalanine hydroxylase gene in various populations.
Konecki DS, et al.
Hum Genet 87 : 377-388. 1991
43PAH, PKU
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
Konecki DS, et al.
Hum Genet 87 : 389-393. 1991
44PAH
Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
Wang T, et al.
Am J Hum Genet 48 : 628-630. 1991
45PAH
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.
Berthelon M, et al.
Hum Genet 86 : 355-358. 1991
46PAH
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia : the contribution of mutations for classical phenylketonuria.
Avigad S, et al.
Am J Hum Genet 49 : 393-399. 1991
47PAH
Phenylalanine hydroxylase gene : novel missense mutation in exon 7 causing severe phenylketonuria.
Dworniczak B, et al.
Genomics 9 : 193-199. 1991
48PAH
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
John SWM, et al.
Am J Hum Genet 46 : 970-974. 1990
49PAH
Simple and rapid detection of phenylketonuria mutation tightly linked to haplotype 2 by modified polymerase chain reaction.
Matsubara Y, et al.
J Inherit Metab Dis 13 : 775-779. 1990
50PAH, PKU
Application of a new DNA sequence polymorphism as a genetic marker in prenatal diagnosis of phenylketonuria.
Huang SZ, et al.
J Med Genet 27 : 65-66. 1990
51PAH
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.
Okano Y, et al.
Am J Hum Genet 46 : 18-25. 1990
52PAH, PKU
Molecular genetics of phenylketonuria and its implications.
Levy HL.
Am J Hum Genet 45 : 667-670. 1989
53PAH, PKU
CpG dinucleotides are mutation hot spots in phenylketonuria.
Abadie V, et al.
Genomics 5 : 936-939. 1989
54PAH, PKU
Molecular genetics of phenylketonuria in Mediterranean countries : a mutation associated with partial phenylalanine hydroxylase deficiency.
Lyonnet S, et al.
Am J Hum Genet 44 : 511-517. 1989
55PAH, PKU
Phenylketonuria : detection of a frequent haplotype 4 allele mutation.
Dworniczak B, et al.
Hum Genet 84 : 95-96. 1989
56PAH
Novel PKU mutation on haplotype 2 in French-Canadians.
John SWM, et al.
Am J Hum Genet 45 : 905-909. 1989
57PAH
Direct detection of a major mutation responsible for phenylketonuria in the population of the federal republic of Germany.
Lichter-Konecki U, et al.
Eur J Pediatr 149 : 120-123. 1989
58PAH
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.
Chakraborty R, et al.
Hum Genet 76 : 40-46. 1987
59PAH
Regional mapping of the human phenylalanine hydroxylase gene and PKUlocus to 12q21->qter.
Woo SLC, et al.
Am J Hum Genet 36 : 210S. 1984