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    PAH phenylalanine hydroxylase [ Homo sapiens (human) ]

    Gene ID: 5053, updated on 12-Mar-2017

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Our study highlighted two novel promoter KLF1 and 3'-region C/EBPalpha motifs in the phenylalanine hydroxylase (PAH) gene which decrease transcription in vitro and, thus, could be considered as PAH expression modifiers.

    New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.
    Klaassen K, Stankovic B, Kotur N, Djordjevic M, Zukic B, Nikcevic G, Ugrin M, Spasovski V, Srzentic S, Pavlovic S, Stojiljkovic M.

    The results of the in vitro residual PAH activity have major implications, both for our understanding of genotype-phenotype correlations, and thereby existing inconsistencies, but also for the elucidation of the molecular basis of tetrahydrobiopterin (BH4) responsiveness.

    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.

    Data provide the structural evidence for a dietary I-phenylalanine (Phe) binding pocket at the subunit-subunit interface of a N-terminal regulatory domain (PAH-RD) dimer, and demonstrate that PAH-RD dimerization depends on Phe binding.

    Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.
    Patel D, Kopec J, Fitzpatrick F, McCorvie TJ, Yue WW., Free PMC Article

    The co-expression of two distinct PAH variants revealed possible dominance effects (positive or negative) by one of the variants on residual PAH activity as a result of interallelic complementation.

    Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
    Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N.

    PAH gene mutation analysis combined with STR linkage analysis can provide rapid and accurate prenatal diagnosis for phenylketonuria families

    Prenatal diagnosis of Chinese families with phenylketonuria.
    Liu N, Kong XD, Zhao DH, Wu QH, Li XL, Guo HF, Cui LX, Jiang M, Shi HR.

    The mutation spectrum of PAH gene in Henan seems to differ from that of other regions. Independent assortment of mutant alleles may result in a complex genotype-phenotype correlation.

    [Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
    Zhao D, Li X, Jia C, Ni M, Kong X.

    This study identified one novel PAH variant-c.699C>G-and and tries to show a genotype-phenotype relationship also regarding BH4-responsiveness.

    Mutational spectrum of phenylketonuria in Jiangsu province.
    Chen YF, Jia HT, Chen ZH, Song JP, Liang Y, Pei JJ, Wu ZJ, Wang J, Qiu YL, Liu G, Sun DM, Jiang XY.

    This study is the first report on tested population genetic structure using VNTR alleles at the PAH gene

    Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.
    Bagheri M, Abdi Rad I, Hosseini Jazani N, Zarrin R, Ghazavi A., Free PMC Article

    Aberrant methylation is observed in leukocytes of PAH deficient phenylketonuria patients and is influenced by phenylalanine exposure.

    Altered DNA methylation in PAH deficient phenylketonuria.
    Dobrowolski SF, Lyons-Weiler J, Spridik K, Biery A, Breck J, Vockley J, Yatsenko S, Sultana T.

    We determined phenylalanine hydroxylase function of 30 frequent homozygous and compound heterozygous genotypes covering 55% of the study population.

    Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
    Danecka MK, Woidy M, Zschocke J, Feillet F, Muntau AC, Gersting SW.

    Mutational spectrum was presented for PAH gene in PAH deficiency patients from different parts of Mexico. New mutations were described.

    Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
    Vela-Amieva M, Abreu-González M, González-del Angel A, Ibarra-González I, Fernández-Lainez C, Barrientos-Ríos R, Monroy-Santoyo S, Guillén-López S, Alcántara-Ortigoza MA.

    mutation spectrum of the gene PAH in the Qinghai population was similar to that in other populations in North China

    [Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
    He J, Wang HZ, Xu FL, Yang X, Wang R, Zou HY, Yu WZ.

    Combining in silico analysis and molecular dynamics simulations (in total 3 mus) we described the structural impact of the mutations, which allowed us to separate 32 out of 34 mutations between groups A and B.

    Computational study of missense mutations in phenylalanine hydroxylase.
    Réblová K, Kulhánek P, Fajkusová L.

    R241C, R408Q and Ex6-96A>G are the most common mutations in PAH in phenylalanine hydroxylase deficiency patients.

    [Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
    Zhu W, Chen H, Su Y, Zhao H, Wang J, Zhou J, Chen Y, Zen Y, Lin F, Zhang H.

    15 different mutations of phenylalanine hydroxylase gene were detected in patients with phenylketonuria.

    [Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].
    Tang X, Chen H, Zhang Y, Li L, Mi H, Xu Q, Zhu B.

    15 different mutations were found in 27 unrelated Kurdish PKU patients. IVS4 + 1G > C (c.441 + 1G > C) and IVS7 - 5 T > C (c.843 - 5 T > C) are novel mutations. PAH mutations differ between the Kermanshah province and other parts of Iran.

    Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
    Alibakhshi R, Moradi K, Mohebbi Z, Ghadiri K.

    We demonstrated the high expression of PAH and a large increase of PAH activity in differenciated liver progenitor cells.

    Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase.
    Baruteau J, Nyabi O, Najimi M, Fauvart M, Sokal E.

    findings suggest that common genetic variations in Phenylalanine hydroxylase are associated with verbal memory in healthy adults.

    Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults.
    Teraishi T, Sasayama D, Hori H, Yamamoto N, Fujii T, Matsuo J, Nagashima A, Kinoshita Y, Hattori K, Ota M, Fujii S, Kunugi H., Free PMC Article

    In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations.

    The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
    Liang Y, Huang MZ, Cheng CY, Chao HK, Fwu VT, Chiang SH, Hsiao KJ, Niu DM, Su TS.

    Mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria.

    [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
    Yan Y, Hao S, Yao F, Sun Q, Zheng L, Zhang Q, Zhang C, Yang T, Huang S.

    lipoprotein synthesis in PAH-deficient children, particularly in PKU children, was suppressed in early life.

    Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life.
    Nagasaka H, Tsukahara H, Okano Y, Hirano K, Sakurai T, Hui SP, Ohura T, Usui H, Yorifuji T, Hirayama S, Ohtake A, Miida T.

    Two polymorphic variants of PAH appear to be risk factors for NSCL/P, rs7485331 and rs12425434 in a Polish population.

    Association of common variants in PAH and LAT1 with non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Polish population.
    Hozyasz KK, Mostowska A, Wójcicki P, Lasota A, Wołkowicz A, Dunin-Wilczyńska I, Jagodziński PP.

    This is probably the first report of identification of a significantly low proportion of missense PAH mutations from PKU families and together with the presence of a high proportion of splice, insertion-deletion, and nonsense mutations.

    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.

    Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe

    Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
    Bik-Multanowski M, Kaluzny L, Mozrzymas R, Oltarzewski M, Starostecka E, Lange A, Didycz B, Gizewska M, Ulewicz-Filipowicz J, Chrobot A, Mikoluc B, Szymczakiewicz-Multanowska A, Cichy W, Pietrzyk JJ.

    A total of 98 mutations were detected in 110 phenylalanine hydroxylase alleles.

    [Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
    Qiang R, Yu W, Cai N, Wang X, Qin C, Zhang L, Ma X, Wang L, Shi X, Liu H, Li X, Wang X, He J.

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