PKU Publications

Publications - 2008

38. C. N. Sarkissian, A. Gamez, L. Wang, M. Charbonneau, P. Fitzpatrick, J. F. Lemontt, B. Zhao, M. Vellard, S. M. Bell, C. Henschell, A. Lambert, L. Tsuruda, R. C. Stevens and C. R. Scriver (2008) Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria Proc Natl Acad Sci U S A 105: 20894-9 ;
37. L. Wang, A. Gamez, H. Archer, E. E. Abola, C. N. Sarkissian, P. Fitzpatrick, D. Wendt, Y. Zhang, M. Vellard, J. Bliesath, S. M. Bell, J. F. Lemontt, C. R. Scriver and R. C. Stevens (2008) Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase J Mol Biol 380: 623-35 ;
36. Q. Zhang, R. Horst, M. Geralt, X. Ma, W. X. Hong, M. G. Finn, R. C. Stevens and K. Wuthrich (2008) Microscale NMR screening of new detergents for membrane protein structural biology J Am Chem Soc 130: 7357-63 ;
35. M. R. Zurfluh, J. Zschocke, M. Lindner, F. Feillet, C. Chery, A. Burlina, R. C. Stevens, B. Thony and N. Blau (2008) Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency Hum Mutat 29: 1079 ;

Publications - 2007

34. Y. J. Chen, O. Pornillos, S. Lieu, C. Ma, A. P. Chen and G. Chang (2007) X-ray structure of EmrE supports dual topology model Proc Natl Acad Sci U S A 104: 18999-9004 ;
33. A. Gamez, L. Wang, C. N. Sarkissian, D. Wendt, P. Fitzpatrick, J. F. Lemontt, C. R. Scriver and R. C. Stevens (2007) Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria Mol Genet Metab 91: 325-34 ;
32. 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 (2007) Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin Genet Test 11: 174-8 ;
31. A. Ward, C. L. Reyes, J. Yu, C. B. Roth and G. Chang (2007) Flexibility in the ABC transporter MsbA: Alternating access with a twist Proc Natl Acad Sci U S A 104: 19005-10 ;

Publications - 2006

30. C. R. Scriver, M. Hurtubise, L. Prevost, M. Phommarinh, D. Konecki, H. Erlandsen, R. C. Stevens, P. J. Waters, S. Ryan, D. McDonald and C. N. Sarkissian (2006) A PAH gene knowledgebase: content, informatics, utilization N. Blau PKU and BH4: advances in phenylketonuria and tetrahydrobiopterin research Keilbronn SPS Verlagsgesellschaft 434-451

Publications - 2005

29. N. Blau, R. Koch, R. Matalon and R. C. Stevens (2005) Five years of synergistic scientific effort on phenylketonuria therapeutic development and molecular understanding Mol Genet Metab 86 Suppl 1: 1 ;
28. A. Gamez, 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 and R. C. Stevens (2005) Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria Mol Ther 11: 986-9 ;
27. F. Katzen, G. Chang and W. Kudlicki (2005) The past, present and future of cell-free protein synthesis Trends Biotechnol 23: 150-6 ;
26. R. Matalon, K. Michals-Matalon, R. Koch, J. Grady, S. Tyring and R. C. Stevens (2005) Response of patients with phenylketonuria in the US to tetrahydrobiopterin Mol Genet Metab 86 Suppl 1: S17-21 ;
25. B. Perez, L. R. Desviat, P. Gomez-Puertas, A. Martinez, R. C. Stevens and M. Ugarte (2005) Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients Mol Genet Metab 86 Suppl 1: S11-6 ;
24. L. Wang, A. Gamez, C. N. Sarkissian, M. Straub, M. G. Patch, G. W. Han, S. Striepeke, P. Fitzpatrick, C. R. Scriver and R. C. Stevens (2005) Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria Mol Genet Metab 86: 134-40 ;

Publications - 2004

23. H. Erlandsen, A. L. Pey, A. Gamez, B. Perez, L. R. Desviat, C. Aguado, R. Koch, S. Surendran, S. Tyring, R. Matalon, C. R. Scriver, M. Ugarte, A. Martinez and R. C. Stevens (2004) Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations Proc Natl Acad Sci U S A 101: 16903-8 ;
22. A. Gamez, L. Wang, M. Straub, M. G. Patch and R. C. Stevens (2004) Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase Mol Ther 9: 124-9 ;
21. W. Kim, H. Erlandsen, S. Surendran, R. C. Stevens, A. Gamez, K. Michols-Matalon, S. K. Tyring and R. Matalon (2004) Trends in enzyme therapy for phenylketonuria Mol Ther 10: 220-4 ;
20. 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 and F. Guttler (2004) Biopterin responsive phenylalanine hydroxylase deficiency Genet Med 6: 27-32 ;
19. A. L. Pey, B. Perez, L. R. Desviat, M. A. Martinez, C. Aguado, H. Erlandsen, A. Gamez, R. C. Stevens, M. Thorolfsson, M. Ugarte and A. Martinez (2004) Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations Hum Mutat 24: 388-99 ;
18. A. L. Pey, M. Thorolfsson, H. Erlandsen, R. C. Stevens, M. Ugarte, L. R. Desviat, B. Perez and A. Martinez (2004) Thermodynamic parameters for the binding of tetrahydrobiopterin to human phenylalanine hydroxylase N. Blau and B. Thony Pterins, Folates & Neurotransmitters Mol. Med. Heilbronn, Germany SPS Verlagsgesellschaft mbH 155-160

Publications - 2003

17. H. Erlandsen, M. G. Patch, A. Gamez, M. Straub and R. C. Stevens (2003) Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria Pediatrics 112: 1557-65 ;
16. C. R. Scriver, M. Hurtubise, D. Konecki, M. Phommarinh, L. Prevost, H. Erlandsen, R. C. Stevens, P. J. Waters, S. Ryan, D. McDonald and C. N. Sarkissian (2003) PAHdb 2003: What a locus-specific knowledgebase can do Hum Mutat 21: 333-344 ;

Publications - 2002

15. H. Erlandsen, J. Y. Kim, M. G. Patch, A. Han, A. Volner, M. M. Abu-Omar and R. C. Stevens (2002) Structural comparison of bacterial and human iron-dependent phenylalanine hydroxylases: similar fold, different stability and reaction rates J Mol Biol 320: 645-61 ;
14. L. Wang, H. Erlandsen, J. Haavik, P. M. Knappskog and R. C. Stevens (2002) Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin Biochemistry 41: 12569-74 ;

Publications - 2001

13. H. Erlandsen and R. C. Stevens (2001) A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria J Inherit Metab Dis 24: 213-30 ;

Publications - 2000

12. H. Erlandsen, E. E. Abola and R. C. Stevens (2000) Combining structural genomics and enzymology: completing the picture in metabolic pathways and enzyme active sites Curr Opin Struct Biol 10: 719-30 ;
11. H. Erlandsen, E. Bjorgo, T. Flatmark and R. C. Stevens (2000) Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase Biochemistry 39: 2208-17 ;
10. T. Flatmark, H. Erlandsen, E. Bjorgo, T. Solstad, A. P. Doskeland and R. C. Stevens (2000) Regulatory properties of tetrahydrobiopterin cofactor bound at the active site of phenylalanine hydroxylase Pteridines 11: 34-36 ;

Publications - 1999

9. H. Erlandsen and R. C. Stevens (1999) The structural basis of phenylketonuria Mol Genet Metab 68: 103-25 ;
8. T. Flatmark and R. C. Stevens (1999) Structural Insight into the Aromatic Amino Acid Hydroxylases and Their Disease-Related Mutant Forms Chem Rev 99: 2137-2160 ;
7. B. Kobe, I. G. Jennings, C. M. House, B. J. Michell, K. E. Goodwill, B. D. Santarsiero, R. C. Stevens, R. G. Cotton and B. E. Kemp (1999) Structural basis of autoregulation of phenylalanine hydroxylase Nat Struct Biol 6: 442-8 ;

Publications - 1998

6. E. Bjorgo, P. M. Knappskog, A. Martinez, R. C. Stevens and T. Flatmark (1998) 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 ;
5. H. Erlandsen, T. Flatmark, R. C. Stevens and E. Hough (1998) Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0 A resolution Biochemistry 37: 15638-46 ;
4. F. Fusetti, H. Erlandsen, T. Flatmark and R. C. Stevens (1998) Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria J Biol Chem 273: 16962-7 ;
3. K. E. Goodwill, C. Sabatier and R. C. Stevens (1998) Crystal structure of tyrosine hydroxylase with bound cofactor analogue and iron at 2.3 A resolution: self-hydroxylation of Phe300 and the pterin-binding site Biochemistry 37: 13437-45 ;

Publications - 1997

2. H. Erlandsen, F. Fusetti, A. Martinez, E. Hough, T. Flatmark and R. C. Stevens (1997) Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria Nat Struct Biol 4: 995-1000 ;
1. K. E. Goodwill, C. Sabatier, C. Marks, R. Raag, P. F. Fitzpatrick and R. C. Stevens (1997) Crystal structure of tyrosine hydroxylase at 2.3 A and its implications for inherited neurodegenerative diseases Nat Struct Biol 4: 578-85 ;