|
|
| Line 38: |
Line 38: |
| Treatments for phenylketonuria include a lifelong diet avoiding foods containing phenylalanine and supplementation of synthetic formations of the cofactor tetrahydrobiopterin (BH4). Testing for PKU can be done early on in the lifespan to determine if the disease is present and to start avoiding foods containing phenylalanine. | | Treatments for phenylketonuria include a lifelong diet avoiding foods containing phenylalanine and supplementation of synthetic formations of the cofactor tetrahydrobiopterin (BH4). Testing for PKU can be done early on in the lifespan to determine if the disease is present and to start avoiding foods containing phenylalanine. |
| <Structure load='4ANP' size='250' frame='true' align='right' caption='Protein With Chaperone' scene='Insert optional scene name here' /> | | <Structure load='4ANP' size='250' frame='true' align='right' caption='Protein With Chaperone' scene='Insert optional scene name here' /> |
|
| |
| =====Citations=====
| |
| 1. Flydal, M. I.; Alcorlo-Pagés, M.; Johannessen, F. G.; Martínez-Caballero, S.; Skjærven, L.; Fernandez-Leiro, R.; Martinez, A.; Hermoso, J. A. Structure of Full-Length Human Phenylalanine Hydroxylase in Complex with Tetrahydrobiopterin. Proc. Natl. Acad. Sci. U.S.A. 2019, 116 (23), 11229–11234. https://doi.org/10.1073/pnas.1902639116.
| |
|
| |
| 2. Matthews, D. E. An Overview of Phenylalanine and Tyrosine Kinetics in Humans. J Nutr. 2007 Jun; 137(6 Suppl 1): 1549S–1575S. doi: 10.1093/jn/137.6.1549S
| |
|
| |
| 3. Siltberg-Liberles, J.; Steen, I. H.; Svebak, R. M.; Martinez, A. The Phylogeny of the Aromatic Amino Acid Hydroxylases Revisited by Characterizing Phenylalanine Hydroxylase from Dictyostelium Discoideum. Gene 2008, 427 (1-2), 86–92. https://doi.org/10.1016/j.gene.2008.09.005.
| |
|
| |
| 4. Fusetti, F.; Erlandsen, H.; Flatmark, T.; Stevens, R. C. Structure of Tetrameric Human Phenylalanine Hydroxylase and Its Implications for Phenylketonuria. J. Biol. Chem 1998, 273 (27), 16962–16967. https://doi.org/10.1074/jbc.273.27.16962.
| |
|
| |
| 5. Carluccio, C.; Fraternali, F.; Salvatore, F.; Fornili, A.; Zagari, A. Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase. PLoS ONE 2013, 8 (11), e79482. https://doi.org/10.1371/journal.pone.0079482.
| |
|
| |
| 6. Flydal, M. I.; Martinez, A. Phenylalanine Hydroxylase: Function, Structure, and Regulation. IUBMB Life 2013, 65 (4), 341–349. https://doi.org/10.1002/iub.1150.
| |
|
| |
| 7. Gjetting, T.; Petersen, M.; Guldberg, P.; Güttler, F. In Vitro Expression of 34 Naturally Occurring Mutant Variants of Phenylalanine Hydroxylase: Correlation with Metabolic Phenotypes and Susceptibility toward Protein Aggregation. Mol. Genet. Metab 2001, 72 (2), 132–143. https://doi.org/10.1006/mgme.2000.3118.
| |
|
| |
| 8. Blau, N.; Erlandsen, H. The Metabolic and Molecular Bases of Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency. Mol. Genet. Metab 2004, 82 (2), 101–111. https://doi.org/10.1016/j.ymgme.2004.03.006.
| |
|
| |
| 9. Scriver, C. R. ThePAH Gene, Phenylketonuria, and a Paradigm Shift. Hum. Mutat 2007, 28 (9), 831–845. https://doi.org/10.1002/humu.20526.
| |
|
| |
| 10. Waters, P. J. HowPAH Gene Mutations Cause Hyper-Phenylalaninemia and Why Mechanism Matters: Insights from in Vitro Expression. Hum. Mutat 2003, 21 (4), 357–369. https://doi.org/10.1002/humu.10197.
| |
|
| |
| 11. Shebl, G.; Ahmed, H.; Kato, A.; Dawoud, H.; Hamza, M.; Haider, A. Detection of Sequence Mutations in Phenylalanine Hydroxylase (PAH) Gene Isolated from Egyptian Phenylketonuria (PKU) Patients. Egypt. J. Exp. Biol. (Bot.) 2019, 15 (2), 295. https://doi.org/10.5455/egyjebb.20190804010102.
| |
|
| |
|
| |
|
| |
|
|
| |
|
