Literature DB >> 7893121

The hyperphenylalaninemias of man and mouse.

C R Scriver1, R C Eisensmith, S L Woo, S Kaufman.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7893121     DOI： 10.1146/annurev.ge.28.120194.001041

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN： 0066-4197            Impact factor:   16.830


× No keyword cloud information.
  13 in total

1.  Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

Authors:  B Thöny; F Neuheiser; L Kierat; M Blaskovics; P H Arn; P Ferreira; I Rebrin; J Ayling; N Blau
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

2.  International database of tetrahydrobiopterin deficiencies.

Authors:  N Blau; I Barnes; J L Dhondt
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  O2 Activation by Non-Heme Iron Enzymes.

Authors:  Edward I Solomon; Serra Goudarzi; Kyle D Sutherlin
Journal:  Biochemistry       Date:  2016-11-14       Impact factor: 3.162

4.  PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

Authors:  L Hoang; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

Review 5.  Tetrahydrobiopterin biosynthesis, regeneration and functions.

Authors:  B Thöny; G Auerbach; N Blau
Journal:  Biochem J       Date:  2000-04-01       Impact factor: 3.857

Review 6.  State-of-the-art 2003 on PKU gene therapy.

Authors:  Zhaobing Ding; Cary O Harding; Beat Thöny
Journal:  Mol Genet Metab       Date:  2004-01       Impact factor: 4.797

7.  Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats.

Authors:  Gerald A Dienel; Nancy F Cruz
Journal:  Neurochem Res       Date:  2015-07-30       Impact factor: 3.996

8.  Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

Authors:  Angel L Pey; Francois Stricher; Luis Serrano; Aurora Martinez
Journal:  Am J Hum Genet       Date:  2007-10-02       Impact factor: 11.025

9.  Structural and stability effects of phosphorylation: Localized structural changes in phenylalanine hydroxylase.

Authors:  Frederico Faria Miranda; Matthías Thórólfsson; Knut Teigen; Jose M Sanchez-Ruiz; Aurora Martínez
Journal:  Protein Sci       Date:  2004-05       Impact factor: 6.725

Review 10.  Phenylketonuria: translating research into novel therapies.

Authors:  Gladys Ho; John Christodoulou
Journal:  Transl Pediatr       Date:  2014-04
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.