PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

Active Databases: all

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

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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
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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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