J D McDonald
Affiliation: Wichita State University
- Characterization of mutations at the mouse phenylalanine hydroxylase locusJ D McDonald
Department of Biological Sciences, Wichita State University, Kansas 67260, USA
Genomics 39:402-5. 1997..In PAHENU2, the sequence information was used to devise a direct genotyping system based on the creation of a new Alw26I restriction endonuclease site...
- Effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspringS Cho
Department of Biological Sciences, Wichita State University, 1845 Fairmount, Wichita, Kansas 67260 0026, USA
Mol Genet Metab 74:420-5. 2001..These findings strongly suggest that there are sufficient similarities between human MPKU and MPKU in this mouse model to establish it as a very promising model for future studies designed to characterize human MPKU more thoroughly...
- The PKU mouse project: its history, potential and implicationsJ D McDonald
Wichita State University, Department of Biological Sciences, Kansas, USA
Acta Paediatr Suppl 407:122-3. 1994..These latter strains have levels of HPH very similar to human PKU patients, exhibit a phenylalanine-dependent hypopigmentation, and have reproductive difficulties that resemble human maternal PKU...
- Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3)M J Haefele
Department of Biological Sciences, Wichita State University, Wichita, Kansas 67260 0026, USA
Mol Genet Metab 72:27-30. 2001..The 5-nucleotide insertion and the 5-nucleotide deletion are both predicted to cause frame shifting in exon 12 and exon 13, leading to premature termination...
- Mouse models of human phenylketonuriaA Shedlovsky
McArdle Laboratory for Cancer Research, University of Wisconsin, Madison 53706
Genetics 134:1205-10. 1993..The mutants now can be used as models in studying both maternal PKU and somatic gene therapy...
- A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemiaC N Sarkissian
Department of Biology, Department of Human Genetics, Department of Paediatrics, McGill University and Debelle Laboratory, McGill University Montreal Children s Hospital Research Institute, 2300 Tupper Street, A 717, Montreal, Quebec, Canada
Mol Genet Metab 69:188-94. 2000..The maternal HPA effect on the fetus correlates directly with the degree of hyperphenylalaninemia, but only the ENU2 strain has impaired learning...
- Abnormal expression of genes associated with development and inflammation in the heart of mouse maternal phenylketonuria offspringR Matalon
Department of Pediatrics, The University of Texas Medical Branch UTMB, Galveston, Texas 77555 0632, USA
Int J Immunopathol Pharmacol 18:557-65. 2005..Our results suggest that altered gene expression affects protein production. These changes are likely involved in the cardiovascular defects seen in the mouse...
- Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylaseJ D McDonald
McArdle Laboratory, University of Wisconsin, Madison 53706
Proc Natl Acad Sci U S A 87:1965-7. 1990..This mutant provides a useful genetic animal model affected in the same enzyme as in human phenylketonuria...
- Molecular characterization of HPH-1: a mouse mutant deficient in GTP cyclohydrolase I activityM Gutlich
GSF Institut für Klinische Molekularbiologie, Munchen, Germany
Biochem Biophys Res Commun 203:1675-81. 1994..The open reading frame of GTP cyclohydrolase I is not affected by the hph-1 mutation as shown by sequencing. Northern blot analysis demonstrates a marked decrease in the steady state mRNA level specific for GTP cyclohydrolase I...
- hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesisV C Bode
Division of Biology, Kansas State University, Manhattan 66506
Genetics 118:299-305. 1988..The initial symptomatology of the mutant phenotype suggests this mutant may represent a useful animal model for the study of hyperphenylalaninemia in man...
- Large neutral amino acids in the treatment of phenylketonuria (PKU)R Matalon
Department of Pediatrics, University of Texas Medical Branch, Childrens Hospital, Galveston, Texas, USA
J Inherit Metab Dis 29:732-8. 2006..The preliminary data from this study are encouraging and a double blind placebo-controlled trial will be required to show long-term efficacy and tolerance of LNAAs in the treatment of PKU...