Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11

In about 20–30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH4) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH4-response and therefore a correct assessment of the mutation mole...

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Veröffentlicht in:	Molecular genetics and metabolism 2012-08, Vol.106 (4), p.403-411
Hauptverfasser:	Heintz, Caroline, Dobrowolski, Steven F., Andersen, Henriette Skovgaard, Demirkol, Mübeccel, Blau, Nenad, Andresen, Brage Storstein
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing - genetics Animals Base Sequence Cell Line Chromatography, Affinity Cofactors Enhancers Entropy Exomic splicing enhancer Exons Exons - genetics Genetic Predisposition to Disease Genotypes Humans Hyperphenylalaninemia Introns Lymphoblasts Molecular Sequence Data mRNA splicing Mutagenesis - genetics Mutation Mutation - genetics Nuclear Proteins - metabolism Pathology, Molecular Phenylalanine Phenylalanine 4-monooxygenase Phenylalanine Hydroxylase - genetics Phenylketonuria Phenylketonurias - enzymology Phenylketonurias - genetics Pseudoexon Regulatory sequences Reproducibility of Results RNA Precursors - genetics RNA Precursors - metabolism RNA Splice Sites - genetics RNA-Binding Proteins - metabolism Serine-Arginine Splicing Factors splicing factors Tetrahydrobiopterin Transfection
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