Results 131 to 140 of about 24,432 (224)

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria. [PDF]

Sci Rep, 2021
Singh K, Cornell CS, Jackson R, Kabiri M, Phipps M, Desai M, Fogle R, Ying X, Anarat-Cappillino G, Geller S, Johnson J, Roberts E, Malley K, Devlin T, DeRiso M, Berthelette P, Zhang YV, Ryan S, Rao S, Thurberg BL, Bangari DS, Kyostio-Moore S.   +21 more
europepmc   +1 more source

Molecular dynamics simulation data of regulatory ACT domain monomer mutation (T63P) of human phenylalanine hydroxylase (PAH)

, 2020
Ge Yunhui, Vincent A. Voelz
openalex   +1 more source

Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations [PDF]

, 2006
Aurora Daniele, Giuseppe Cardillo, Cinzia Pennino, Maria Teresa Carbone, Davide Scognamiglio, Antonio Correra, A Pignero, Giuseppe Castaldo, Francesco Salvatore   +8 more
openalex   +1 more source

The role of reversible phosphorylation in the hormonal control of phenylalanine hydroxylase in isolated rat proximal kidney tubules [PDF]

, 1993
S C Richardson, Robert A. Aspbury, Michael J. Fisher   +2 more
openalex   +1 more source

RFLPs at the PAH (phenylalanine hydroxylase) gene in the Japanese population

, 1991
Kiyoshi Araki, Nobutake Matsuo, Jun Kodoh, Nobuyoshi Shimizu   +3 more
openalex   +2 more sources

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj  

E3 Ubiquitin Ligase APC/C^Cdh1 Regulation of Phenylalanine Hydroxylase Stability and Function. [PDF]

Int J Mol Sci, 2020
Tyagi A, Sarodaya N, Kaushal K, Chandrasekaran AP, Antao AM, Suresh B, Rhie BH, Kim KS, Ramakrishna S.   +8 more
europepmc   +1 more source

A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency. [PDF]

Mol Genet Metab, 2020
Richards DY, Winn SR, Dudley S, Fedorov L, Rimann N, Thöny B, Harding CO.   +6 more
europepmc   +1 more source

Crystallization of a Stable Form of Human Phenylalanine Hydroxylase: Towards the 3D Structure Determination

, 2014
Catarina Coelho, Fábio Madeira, Paulo Roque Lino, Isabel Tavares de Almeida, Paula Leandro, Maria João Romão   +5 more
openalex   +1 more source

Modeled ligand‐protein complexes elucidate the origin of substrate specificity and provide insight into catalytic mechanisms of phenylalanine hydroxylase and tyrosine hydroxylase [PDF]

, 2003
Astrid Maaß, Joachim Scholz, Andréas Moser   +2 more
openalex   +1 more source