Cargando…

PKU mutation p.G46S prevents the stereospecific binding of l‐phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain

Mammalian phenylalanine hydroxylase (PAH) has a potential allosteric regulatory binding site for l‐phenylalanine (l‐Phe), in addition to its catalytic site. This arrangement is supported by a crystal structure of a homodimeric truncated form of the regulatory domain of human PAH (hPAH‐RD (1–118/19–1...

Descripción completa

Detalles Bibliográficos
Autores principales:	Leandro, João, Saraste, Jaakko, Leandro, Paula, Flatmark, Torgeir
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292662/ https://www.ncbi.nlm.nih.gov/pubmed/28174686 http://dx.doi.org/10.1002/2211-5463.12175

Ejemplares similares

Phenylalanine Binding Is Linked to Dimerization of the Regulatory Domain of Phenylalanine Hydroxylase
por: Zhang, Shengnan, et al.
Publicado: (2014)

Substituting Tyr(138) in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation
por: Leandro, João, et al.
Publicado: (2017)

Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain
por: Patel, Dipali, et al.
Publicado: (2016)

Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase
por: Carluccio, Carla, et al.
Publicado: (2013)

The Amino Acid Specificity for Activation of Phenylalanine Hydroxylase Matches the Specificity for Stabilization of Regulatory Domain Dimers
por: Zhang, Shengnan, et al.
Publicado: (2015)

Stabilization of tryptophan hydroxylase 2 by l‐phenylalanine‐induced dimerization
por: Tidemand, Kasper D., et al.
Publicado: (2016)

Activation of Phenylalanine Hydroxylase by Phenylalanine Does Not Require Binding in the Active Site
por: Roberts, Kenneth M., et al.
Publicado: (2014)

Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives
por: Lopes, Raquel R., et al.
Publicado: (2021)

Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones
por: Underhaug, Jarl, et al.
Publicado: (2012)

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
por: Singh, Rani H., et al.
Publicado: (2014)

Impact of Fluorinated Ionic Liquids on Human Phenylalanine Hydroxylase—A Potential Drug Delivery System
por: Alves, Márcia M. S., et al.
Publicado: (2022)

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria
por: Biglari, Alireza, et al.
Publicado: (2015)

Dynamic Regulation of Phenylalanine Hydroxylase by Simulated Redox Manipulation
por: Fuchs, Julian E., et al.
Publicado: (2012)

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish
por: Schwoerer, Jessica Scott, et al.
Publicado: (2018)

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
por: Zhou, Jinfu, et al.
Publicado: (2022)

Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability
por: Tomé, Catarina S., et al.
Publicado: (2019)

Engineered Escherichia coli platforms for tyrosine-derivative production from phenylalanine using phenylalanine hydroxylase and tetrahydrobiopterin-regeneration system
por: Satoh, Yasuharu, et al.
Publicado: (2023)

Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU
por: Daly, A., et al.
Publicado: (2019)

Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
por: Zhou, Yong-An, et al.
Publicado: (2012)

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
por: Ye, Jun, et al.
Publicado: (2015)

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria
por: Rastegar Moghadam, Mahsa, et al.
Publicado: (2018)

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase
por: Pecimonova, Martina, et al.
Publicado: (2019)

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency
por: Lotz-Havla, Amelie S., et al.
Publicado: (2021)

Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase
por: Conde-Giménez, María, et al.
Publicado: (2022)

Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice
por: Cacicedo, Maximiliano L., et al.
Publicado: (2022)

Author Correction: Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability
por: Tomé, Catarina S., et al.
Publicado: (2019)

Development of a Whole Blood Paper-Based Device for Phenylalanine Detection in the Context of PKU Therapy Monitoring
por: Robinson, Robert, et al.
Publicado: (2016)

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
por: Chen, Ting, et al.
Publicado: (2018)

Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU
por: Evans, Sharon, et al.
Publicado: (2019)

Structural and thermodynamic insight into phenylalanine hydroxylase from the human pathogen Legionella pneumophila()
por: Leiros, Hanna-Kirsti S., et al.
Publicado: (2013)

A Conserved Acidic Residue in Phenylalanine Hydroxylase Contributes to Cofactor Affinity and Catalysis
por: Ronau, Judith A., et al.
Publicado: (2014)

Phenylalanine 4-Hydroxylase Contributes to Endophytic Bacterium Pseudomonas fluorescens’ Melatonin Biosynthesis
por: Jiao, Jian, et al.
Publicado: (2021)

Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase
por: Conde-Giménez, María, et al.
Publicado: (2021)

Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants
por: Sarodaya, Neha, et al.
Publicado: (2022)

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
por: Zeng, Baitao, et al.
Publicado: (2023)

Creatine energy substrate increases bone density in the Pah(enu2) classical PKU mouse in the context of phenylalanine restriction
por: Dobrowolski, Steven F., et al.
Publicado: (2023)

Immunocytochemical identification of phenylalanine hydroxylase and albumin in cultured hepatoma cells and isolated rat hepatocytes
Publicado: (1981)

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis
por: Foreman, Pamela K., et al.
Publicado: (2021)

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
por: Zhang, Chuan, et al.
Publicado: (2023)

The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
por: Bik-Multanowski, Miroslaw, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_c9h5okussq87kvjah8fr5n9do9