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2000 | 47 | 2 | 365-369
Article title

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

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EN
Abstracts
EN
Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
Publisher

Year
Volume
47
Issue
2
Pages
365-369
Physical description
Dates
published
2000
received
2000-04-18
Contributors
  • Department of Medical Genetics, National Research Institute of Mother and Child, Warszawa, Poland
author
  • Center of Molecular Biology "Severo Ochoa", Autonomous University of Madrid, 28049 Madrid, Spain
  • Center of Molecular Biology "Severo Ochoa", Autonomous University of Madrid, 28049 Madrid, Spain
  • Department of Medical Genetics, National Research Institute of Mother and Child, Warszawa, Poland
  • Center of Molecular Biology "Severo Ochoa", Autonomous University of Madrid, 28049 Madrid, Spain
References
  • 1. Koch, R., Fishler, K., Azen, C., Gouldberg, P. & Guttler, F. (1997) The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency. Biochem. Mol. Med. 60, 92- 101.
  • 2. Eisensmith, R.C., Martinez, B.S., Kuzmin, A.I., Goltsov, A.A., Brown, A., Singh, R., Elssas, L.J. & Woo, S.L.C. (1996) Molecular basis of phenylketonuria and correlation between genotype and phenotype in heterogeneous southeastern US population. Pediatrics 97, 512-516.
  • 3. Desviat, L.R., Perez, B., Garcia, M.J., Martinez-Pardo, M., Beldellou, A., Arena, J., Sanjurjo, P., Campistol, J., Couce, M.L., Fernandez, A., Cardesa, J. & Ugarte, M. (1997) Relationship between mutations and genotype and biochemical phenotype in a heterogenous Spanish population. Eur. J. Hum. Genet. 5, 196-202.
  • 4. Desviat, L.R., Perez, B., Gamez, A., Sanchez, A., Garcia, M.J., Martinez-Pardo, M., Marchante, C., Boveda, D., Beldellou, A., Arena, J., Sanjurjo, P., Fernandez, A., Cabello, M.L. & Ugarte, M. (1999) Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions. Eur. J. Hum. Genet. 7, 386-392.
  • 5. Żekanowski, C., Nowacka, M., Giżewska, M., Filipowicz, J., Cabalska, B. & Bal, J. (1999) Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. Genet Test. 3, 297-299.
  • 6. De Lucca, M., Perez, B., Desviat, L.R. & Ugarte, M. (1998) Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations. Hum Mutat. 11, 354-359.
  • 7. Martinez, A., Knappskog, P.M., Olafdotti, S., Doskeland, A.P., Eiken, H.G., Svebak, R.M., Bozzini, M., Apold, J. & Flatmark, T. (1995) Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Biochem. J. 306, 589- 597.
  • 8. Perez, B., Desviat, L.R. & Ugarte, M. (1995) Expression analysis of mutation P244L which cause mild hyperphenylalaninemia. Hum. Mutat. 5, 188-190.
  • 9. Desviat, L.R., Perez, B. & Ugarte, M. (1996) Molecular basis of non-PKU hyperphenylalaninemia in Spain: Prevalence of A403V, a mutation with high residual activity. J. Inherit. Metab. Dis. 19, 227-230.
  • 10. Knappskog, P.M., Eiken, H.G., Martinez, A., Bruland, O., Apold, J. & Flatmark, T. (1996) A PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems. Hum. Mutat. 8, 236-246.
  • 11. Kayaalp, E., Treacy, E., Waters, P.J., Byck, S., Nowacki, P. & Scriver, C.R. (1997) Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations. Am. J. Hum. Genet. 61, 1309-1317.
  • 12. Waters, P.J., Parniak, M.A., Nowacki, P. & Scriver, C.R. (1998) In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function. Human Mutat. 11, 4-17.
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv47i2p365kz
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