Therapeutic approaches for the correction of misfolding mutations
- Prosjektnummer
- 911298
- Ansvarlig person
- Aurora Martinez
- Institusjon
- Universitetet i Bergen
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Neurology
- Forskningsaktivitet
- Grunnforskning
The phylogeny of the aromatic amino acid hydroxylases revisited by characterizing phenylalanine hydroxylase from Dictyostelium discoideum.
Gene 2008 Dec;427(1-2):86-92. Epub 2008 sep 16
PMID: 18835579
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
J Clin Invest 2008 Aug;118(8):2858-67.
PMID: 18596920
Large-scale modulation of thermodynamic protein folding barriers linked to electrostatics.
Proc Natl Acad Sci U S A 2008 Jun;105(25):8625-30. Epub 2008 jun 11
PMID: 18550823
Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase.
J Neurochem 2008 Jul;106(2):672-81. Epub 2008 apr 14
PMID: 18419768
Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.
FASEB J 2008 Aug;22(8):3046-58. Epub 2008 mai 6
PMID: 18460651
Selectivity and affinity determinants for ligand binding to the aromatic amino acid hydroxylases.
Curr Med Chem 2007;14(4):455-67.
PMID: 17305546
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
Am J Hum Genet 2007 Nov;81(5):1006-24. Epub 2007 okt 2
PMID: 17924342
Tetrahydrobiopterin for patients with phenylketonuria.
Lancet 2007 Aug;370(9586):462-3.
PMID: 17693159
Structure of phenylalanine hydroxylase from Colwellia psychrerythraea 34H, a monomeric cold active enzyme with local flexibility around the active site and high overall stability.
J Biol Chem 2007 Jul;282(30):21973-86. Epub 2007 mai 30
PMID: 17537732
Structural and functional properties of isocitrate dehydrogenase from the psychrophilic bacterium Desulfotalea psychrophila reveal a cold-active enzyme with an unusual high thermal stability.
J Mol Biol 2007 Sep;372(1):130-49. Epub 2007 jun 19
PMID: 17632124
Nuclear localisation of endogenous SUMO-1-modified PDGF-C in human thyroid tissue and cell lines.
Exp Cell Res 2006 Apr;312(6):782-95. Epub 2006 jan 26
PMID: 16443219
Epac1 and cAMP-dependent protein kinase holoenzyme have similar cAMP affinity, but their cAMP domains have distinct structural features and cyclic nucleotide recognition.
J Biol Chem 2006 Jul;281(30):21500-11. Epub 2006 mai 25
PMID: 16728394
Specific interaction of the diastereomers 7(R)- and 7(S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo.
FASEB J 2006 Oct;20(12):2130-2. Epub 2006 aug 25
PMID: 16935936
Rescuing proteins of low kinetic stability by chaperones and natural ligands; phenylketonuria, a case study
Progress in Molecular Biology and Translational Sciences (2008) 83, 89-134
The phenylalanine hydroxylase system
In: PKU and BH4 – Advances in Phenylketonuria and Tetrahydrobiopterin (N. Blau, Editor), pp 67-91. SPS Verlagsgesellschaft mbH, Heilbronn.
Evolution of Structure and
- Disputert:
- september 2008
- Hovedveileder:
- Aurora Martinez
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
Alle henvendelser rettes til Faglig rapportering, Helse Vest