Disorders of neurotransmitter synthesis: towards a therapeutic correction
- Prosjektnummer
- 911618
- Ansvarlig person
- Aurora Martinez
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Neurological
- Forskningsaktivitet
- 5. Treatment Developement
The N-terminal sequence of tyrosine hydroxylase is a conformationally versatile motif that binds 14-3-3 proteins and membranes.
J Mol Biol 2014 Jan 9;426(1):150-68. Epub 2013 sep 17
PMID: 24055376
Modelling cellular signal communication mediated by phosphorylation dependent interaction with 14-3-3 proteins.
FEBS Lett 2014 Jan 3;588(1):92-8. Epub 2013 nov 20
PMID: 24269229
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Hum Mutat 2014 Jul;35(7):880-90. Epub 2014 jun 3
PMID: 24753243
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
Eur J Hum Genet 2014 Jun 18. Epub 2014 jun 18
PMID: 24939588
Phosphorylation dependence and stoichiometry of the complex formed by tyrosine hydroxylase and 14-3-3?.
Mol Cell Proteomics 2014 Aug;13(8):2017-30. Epub 2014 jun 19
PMID: 24947669
Dissection of binding between a phosphorylated tyrosine hydroxylase peptide and 14-3-3?: A complex story elucidated by NMR.
Biophys J 2014 Nov 4;107(9):2185-94.
PMID: 25418103
Phenylalanine hydroxylase misfolding and pharmacological chaperones.
Curr Top Med Chem 2012;12(22):2534-45.
PMID: 23339306
Phenylalanine hydroxylase: function, structure, and regulation.
IUBMB Life 2013 Apr;65(4):341-9. Epub 2013 mar 4
PMID: 23457044
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
Hum Mol Genet 2013 Sep;22(18):3680-9. Epub 2013 mai 13
PMID: 23674520
Screening and evaluation of small organic molecules as ClpB inhibitors and potential antimicrobials.
J Med Chem 2013 Sep;56(18):7177-89. Epub 2013 sep 4
PMID: 23961953
Structural and thermodynamic insight into phenylalanine hydroxylase from the human pathogen Legionella pneumophila.
FEBS Open Bio 2013;3():370-8. Epub 2013 aug 19
PMID: 24251098
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Mol Genet Metab 2012 Apr;105(4):559-65. Epub 2012 jan 12
PMID: 22300847
HAMLET forms annular oligomers when deposited with phospholipid monolayers.
J Mol Biol 2012 Apr;418(1-2):90-102. Epub 2012 feb 16
PMID: 22343047
Blunted epidermal L-tryptophan metabolism in vitiligo affects immune response and ROS scavenging by Fenton chemistry, part 1: Epidermal H2O2/ONOO(-)-mediated stress abrogates tryptophan hydroxylase and dopa decarboxylase activities, leading to low serotonin and melatonin levels.
FASEB J 2012 Jun;26(6):2457-70. Epub 2012 mar 13
PMID: 22415302
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
Hum Mutat 2012 Oct;33(10):1464-73. Epub 2012 jul 2
PMID: 22644647
The peripheral binding of 14-3-3? to membranes involves isoform-specific histidine residues.
PLoS One 2012;7(11):e49671. Epub 2012 nov 26
PMID: 23189152
A dynamic model of long-range conformational adaptations triggered by nucleotide binding in GroEL-GroES.
Proteins 2012 Oct;80(10):2333-46. Epub 2012 jul 6
PMID: 22576372
Divergence in enzyme regulation between Caenorhabditis elegans and human tyrosine hydroxylase, the key enzyme in the synthesis of dopamine.
Biochem J 2011 Feb;434(1):133-41.
PMID: 21087208
Formation of the iron-oxo hydroxylating species in the catalytic cycle of aromatic amino acid hydroxylases.
Chemistry 2011 Mar;17(13):3746-58. Epub 2011 feb 24
PMID: 21351297
The binding of 14-3-3? to membranes studied by intrinsic fluorescence spectroscopy.
FEBS Lett 2011 Apr;585(8):1163-8. Epub 2011 mar 21
PMID: 21420405
The 14-3-3 proteins in regulation of cellular metabolism.
Semin Cell Dev Biol 2011 Sep;22(7):713-9. Epub 2011 aug 22
PMID: 21888985
Stimulation of tetrahydrobiopterin synthesis by L-Phe supplementation in the ENU1/2 mice
Key note talk at the 15th International Symposium on Pteridines and Folates, Antalya, Turkey, May 9-13, 2012
Pharmacological chaperones for tyrosine hydroxylase deficiency.
Key note talk at the Workshop on pharmacological chaperones as therapeutic option for inherited metabolic diseases, Barcelona, Spain, December 20, 2012.
- Ole-Bjørn Tysnes Prosjektdeltaker
- Marte Innselset Flydal Prosjektdeltaker
- Laurence Bindoff Prosjektdeltaker
- Aurora Martinez Prosjektleder
- Knut Teigen Prosjektdeltaker
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