BIOPKU :: International Database of Patients and Mutations causing BH4-responsive HPA/PKU

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About BioPKU.org

This website hosts databases of Pediatric Neurotransmitter Disorders (PND), including the locus-specific database of PAH variants and BIOPKU genotypes database.

Phanylalanine Hydroxylase Locus-Specific Database 3D structures [ OPEN ACCESS ]	NEWS No news at the moment NEW PUBLICATIONS Straniero, L., I. Guella, R. Cilia, L. Parkkinen, V. Rimoldi, A. Young, R. Asselta, G. Solda, V. Sossi, A. J. Stoessl, A. Priori, K. Nishioka, N. Hattori, J. Follett, A. Rajput, N. Blau, G. Pezzoli, M. J. Farrer, S. Goldwurm, A. H. Rajput and S. Duga (2017). "DNAJC12 and dopa-responsive non-progressive Parkinsonism." Ann Neurol. Epub ahead of press https://www.ncbi.nlm.nih.gov/pubmed/28892570 van Spronsen, F. J., N. Himmelreich, V. Rufenacht, N. Shen, D. V. Vliet, M. Al-Owain, K. Ramzan, S. M. Alkhalifi, R. J. Lunsing, R. M. Heiner-Fokkema, A. Rassi, C. Gemperle-Britschgi, G. F. Hoffmann, N. Blau and B. Thony (2017). "Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability." J Med Genet. Epub ahead of press https://www.ncbi.nlm.nih.gov/pubmed/2879413 Zhu, T., J. Ye, L. Han, W. Qiu, H. Zhang, L. Liang and X. Gu (2017). "The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients." Sci Rep 7(1): 6762. https://www.ncbi.nlm.nih.gov/pubmed/2875488 Jaffe, E. K. (2017). "New protein structures provide an updated understanding of phenylketonuria." Mol Genet Metab. Epub ahead of press https://www.ncbi.nlm.nih.gov/pubmed/2864553 Leandro, J., J. Saraste, P. Leandro and T. Flatmark (2017). "PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain." FEBS Open Bio 7(2): 195-203. https://www.ncbi.nlm.nih.gov/pubmed/28174686 Anikster, Y., et al.(2017). "Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability." Am J Hum Genet. https://www.ncbi.nlm.nih.gov/pubmed/28132689 van Spronsen, F. J., et al. (2017). "Key European guidelines for the diagnosis and management of patients with phenylketonuria." Lancet Diabetes Endocrinol. https://www.ncbi.nlm.nih.gov/pubmed/28082082 FREQUENTLY ACCESSED WEBSITES AADC Research Trust PND Association The World of PKU E.S.PKU WEBSITE MANAGER Nenad Blau view personal profile
Database of PKU genotypes Genotype-phenotype prediction BH4 responsiveness prediction [ OPEN ACCESS ]
BH4 deficiencies and PND Locus-Specific Databases (formerly BIOMDB) Link to BIODEF database Link to JAKE database [ OPEN ACCESS ]
Database of patients with PND AADC defiiciency TH deficiency Link to PND database [OPEN ACCESS]
Database of BH4-deficient patients Link to PND database [ CLOSED FOR MAINTENANCE ]

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This Database despite being open to public access, is subject to copyright.
Any use of data contained within this web site must receive appropriate acknowledgement and credit, meaning you should cite the URL as follows:

Name of the database (e.g. PAHvdb, BIODEF, BIOPKU, JAKE or PNDdb) and http://www.biopku.org

Confidentiality of data relating to individual patients and visitors to the BioPKU Web site, including their identity, is respected by this web site. The web site owners undertake to honour or exceed the legal requirements of medical/ health information privacy that apply in the country and state where the web site and mirror sites are located.

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