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

Cezary Zekanowski, Belen Perez, Lourdes R. Desviat, Wojciech Wiszniewski, Magdalena Ugarte

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)365-369
Number of pages5
JournalActa Biochimica Polonica
Volume47
Issue number2
StatePublished - 2000
Externally publishedYes

Fingerprint

Phenylalanine Hydroxylase
Phenylketonurias
Genes
Mutation
Genotype
Liver
In Vitro Techniques

Keywords

  • Expression analysis
  • Hyperphenylalaninemia
  • Mutation
  • Phenylalanine hydroxylase

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Biochemistry

Cite this

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene. / Zekanowski, Cezary; Perez, Belen; Desviat, Lourdes R.; Wiszniewski, Wojciech; Ugarte, Magdalena.

In: Acta Biochimica Polonica, Vol. 47, No. 2, 2000, p. 365-369.

Research output: Contribution to journalArticle

Zekanowski, C, Perez, B, Desviat, LR, Wiszniewski, W & Ugarte, M 2000, 'In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene', Acta Biochimica Polonica, vol. 47, no. 2, pp. 365-369.
Zekanowski, Cezary ; Perez, Belen ; Desviat, Lourdes R. ; Wiszniewski, Wojciech ; Ugarte, Magdalena. / In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene. In: Acta Biochimica Polonica. 2000 ; Vol. 47, No. 2. pp. 365-369.
@article{5d198af406914906bc0cf07dad97fc4c,
title = "In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene",
abstract = "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.",
keywords = "Expression analysis, Hyperphenylalaninemia, Mutation, Phenylalanine hydroxylase",
author = "Cezary Zekanowski and Belen Perez and Desviat, {Lourdes R.} and Wojciech Wiszniewski and Magdalena Ugarte",
year = "2000",
language = "English (US)",
volume = "47",
pages = "365--369",
journal = "Acta Biochimica Polonica",
issn = "0001-527X",
publisher = "Acta Biochimica Polonica",
number = "2",

}

TY - JOUR

T1 - In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

AU - Zekanowski, Cezary

AU - Perez, Belen

AU - Desviat, Lourdes R.

AU - Wiszniewski, Wojciech

AU - Ugarte, Magdalena

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

KW - Expression analysis

KW - Hyperphenylalaninemia

KW - Mutation

KW - Phenylalanine hydroxylase

UR - http://www.scopus.com/inward/record.url?scp=0034575894&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034575894&partnerID=8YFLogxK

M3 - Article

C2 - 11051201

AN - SCOPUS:0034575894

VL - 47

SP - 365

EP - 369

JO - Acta Biochimica Polonica

JF - Acta Biochimica Polonica

SN - 0001-527X

IS - 2

ER -