Stevens Lab Publications on Phenylketonuria (PKU)
Featured Publications on Phenylalanine Hydroxylase/Phenylketonuria research from the Stevens Laboratory.
Laboratory publications on Phenylalane Hydroxylase and Phenylketonuria:
To comply with copyright laws which preclude posting PDF files of actual reprints here, links are now included to each article’s PubMed entry (underlined & in red) or DOI entry (underlined & in green). Users may use these links to access full text or PDF versions of the papers as available. If you are unable to retrieve an article in this way, please request a copy by email from alwalker@scripps.edu.
207. L. Wang, S. Surendran, K. Michals-Matalon, G. Bhatia, S. Tanskley, R. Koch, J. Grady, S.K. Tyring, R.C. Stevens, F. Guttler, and R. Matalon “Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin” Genet. Test. 11, 174-178 (2007). DOI:10.1089/gte.2006.0520
206. A. Gamez, L. Wang, C.N. Sarkissian, D. Wendt, P. Fitzpatrick, J.F. Lemontt, C.R. Scriver, C.R., and R.C. Stevens “Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of Phenylketonuria” Molec. Genet. Metab. 91, 325-334 (2007). DOI:10.1016/j.ymgme.2007.04.015
182. R. Matalon, K. Michals-Matalon, R. Koch, J. Grady, S. Tyring, R.C. Stevens “Response of patients with phenylketonuria in the US to tetrahydrobiopterin” Mol. Genet. Metab. 86 Suppl 1, 17-21 (2005). PMID:16143554
181. B. Pérez, L.R. Desviat, P. Gómez-Puertas, A. Martínez, R.C. Stevens, M. Ugarte “Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients” Mol. Genet. Metab. 86 Suppl 1, 11-16 (2005). PMID:16091306
180. N. Blau, R. Koch, R. Matalon, R.C. Stevens “F ive years of synergistic scientific effort on phenylketonuria therapeutic development and molecular understanding”Mol. Genet. Metab. 86 Suppl 1 , 1 (2005). PMID:16165385
169. L. Wang, A. Gamez, C.N. Sarkissian, M. Straub, M.G. Patch, G.W. Han, S. Striepeke, P. Fitzpatrick, C.R. Scriver, R.C. Stevens “Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria” Mol. Genet. Metab.86, 134-140 (2005). PMID:16006165
165. A. Gámez, C.N. Sarkissian, L. Wang, W. Kim, M. Straub, M.G. Patch, L. Chen, S. Striepeke, P. Fitzpatrick, J.F. Lemontt, C. O’Neill, C.R. Scriver, R.C. Stevens. “Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria” Mol. Ther. , 11, 986-989 (2005). PMID:15922970
159. C.R. Scriver, M. Hurtubise, L. Prevost, M. Phommarinh, D. Konecki, H. Erlandsen, R.C. Stevens, P.J. Waters, S. Ryan, D. McDonald, C. Sarkissan “A PAH gene knowledgebase: Content, informatics, utilization” in PKU and BH 4: Advances in Phenylketonuria and Tetrahydrobiopterin Research, N. Blaue (Ed.), in press (2005).
152. H. Erlandsen, A.L. Pey, A. Gámez, B. Pérez, L.R. Desviat, C. Aguado, R. Koch, S. Surendrran, T. Tyring, R. Matalon, C.R. Scriver, M. Ugarte, A. Martínez, R.C. Stevens “Correction of kinetic and stability dfects by the cofactor BH 4 in PKU patients with certain phenylalanine hydroxylase mutations” Proc. Natl. Acad. Sci. USA,101, 16903-16908 (2004). PMID:15557004
151. A.L. Pey, B. Perez, L.R. Desviat, M.A. Martinez, H. Erlandsen, A. Gamez, R.C. Stevens, M. Ugarte, A. Martinez “Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations”Human Mutations, 24, 388-399 (2004). PMID:15459954
146. W. Kim, H. Erlandsen, S. Surendran, R.C. Stevens, A. Gamez, K. Michols-Matalon, S.K. Tyring, R. Matalon “Trends in enzyme replacement therapy for PKU” Mol. Ther. , 10, 220-224 (2004). PMID:15294168
133. A.L. Pey, M. Thórólfsson, H. Erlandsen, R.C. Stevens, M. Ugarte, L.D. Desviat, B. Pérez, A. Martinez “Thermodynamic parameters for the binding of tetrahydrobiopterin to human phenylalanine hydroxylase” in Pterins, Folates & Neurotransmitters Mol. Med. N. Blau & B. Thöny (Eds.), SPS Verlagsgesellschaft mbH: Heilbronn, Germany. pp. 155-160, (2004).
120. R. Matalon, R. Koch, K. Michals-Matalon, K. Moseley, S. Surendran, S. Tyring, H. Erlandsen, A. Gamez, R.C. Stevens, A. Romstad, L.B. Moller, F. Guttler "Biopterin responsive phenylalanine hydroxylase deficiency." Genet. Med., 6, 27-32, (2004). PMID:14726806
119. A. Gámez, L. Wang, M. Straub, M.G. Patch, R.C. Stevens "Towards PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase." Mol. Ther. , 9, 124-129, (2004). PMID:14741785
115. H. Erlandsen, M.G. Patch, A. Gamez, M. Straub, R.C. Stevens "Structural studies on phenlylalanine hydroxylase and implications toward understanding and treating phenylketonuria" Pediatrics, 112, 1557-1565, (2003). PMID:14654665
111. C.R. Scriver, M. Hurtubise, D. Konecki, M. Phommarinh, L. Prevost, H. Erlandsen, R. Stevens, P.J. Waters, S. Ryan, D. McDonald, C. Sarkissian "PAHdb 2003: What a locus-specific knowledgebase can do." Human Mut., 21, 333-344 (2003). DOI:10.1002/humu.10200
100. H. Erlandsen, J.Y. Kim, M.G. Patch, A. Han, A. Volner, M.M. Abu-Omar, R.C. Stevens "Structural comparison of bacterial and human iron-dependent phenylalanine hydroxylases - similar fold, different stability and reaction rates" J. Mol. Biol., 320, 645-661 (2002). PMID:12096915
87. H. Erlandsen, R.C. Stevens. "A structural hypothesis for BH 4 responsiveness in patients with mild forms of hyperphenylalaninemia and phenylketonuria" J. Inherit. Metab. Dis.; 24, 213-230 (2001). PMID:11405341
84. T. Flatmark, H. Erlandsen, E. Bjørgo, T. Solstad, A.P. Døskeland, R.C. Stevens "Regulatory properties of tetrahydrobiopterin cofactor bound at the active site of phenylalanine hydroxylase" Pteridines, 11, 34-36 (2000).
80. H. Erlandsen, E. Abola, R.C. Stevens "Combining structural genomics and enzymology: Completing the picture in metabolic pathways and enzyme active sites" Curr. Opin. Struct. Biol., 10, 719-730 (2000). PMID:11114510
70. H. Erlandsen, E. Bjøro, T. Flatmark, R.C. Stevens " Crystal structure and site specific mutagenesis of pterin bound human phenylalanine hydroxylase" Biochemistry39, 2208-2217, (2000). PMID:10694386
67. H. Erlandsen, R.C. Stevens "The structural basis of phenylketonuria" (cover story) Mol. Genet. Metab.68, 103-125 (1999). PMID:10527663
63. T. Flatmark, R.C. Stevens “Structural insight into the aromatic amino acid hydroxylases and their disease related mutant forms” (cover story) Chem. Rev. 99, 2137-2160 (1999). PMID:11849022
61. B. Kobe, I.G. Jennings, C.M. House, B.J. Michell, K.E. Goodwill, B.D. Santarsiero, R.C. Stevens, R.G.H. Cotton, B.E. Kemp “Structural basis of autoregulation of phenylalanine hydroxylase”, Nature Struct. Biol. 6, 442-448 (1999). PMID:10331871
59. H. Erlandsen, T. Flatmark, R.C. Stevens, E. Hough “Crystallographic analysis of phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0 Å resolution” Biochemistry37, 15638-15646 (1998). PMID:9843368
56. E. Bjorgo, P.M. Knappskog, A. Martinez, R.C. Stevens, T. Flatmark “Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria” Eur. J. Biochem.257, 1-10 (1998). PMID:9799096
53. F. Fussetti, H. Erlandsen, T. Flatmark, R.C. Stevens “Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria” J. Biol. Chem. 273, 16962-16967 (1998). PMID:9642259
47. H. Erlandsen, F. Fussetti, A. Martinez, E. Hough, T. Flatmark, R.C. Stevens “ Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria” Nature Struct. Biol.4, 995-1000 (1997). PMID:9406548
Last updated September 7, 2007