Results 191 to 200 of about 32,654 (265)

Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine [PDF]

, 2001
Torben Gjetting, Marie Petersen, Per Guldberg, Flemming Güttler   +3 more
openalex   +1 more source

Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin. [PDF]

Proc Natl Acad Sci U S A, 2019
Flydal MI, Alcorlo-Pagés M, Johannessen FG, Martínez-Caballero S, Skjærven L, Fernandez-Leiro R, Martinez A, Hermoso JA.   +7 more
europepmc   +1 more source

Funktion und Fehlfunktion der Phenylalaninhydroxylase in Abhängigkeit von Genotyp, metabolischem Status und Therapie mit dem pharmakologischen Chaperon Tetrahydrobiopterin [PDF]

, 2012
Staudigl, Michael
core  

Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah^enu2 mice [PDF]

, 2003
Cary O. Harding, Mark W. Neff, Kelly A. Jones, Krzysztof Wild, Jon A. Wolff   +4 more
openalex   +1 more source

Phosphorylation of Phenylalanine Hydroxylase Increases the Rate Constant for Formation of the Activated Conformation of the Enzyme. [PDF]

Biochemistry, 2018
Khan CA, Fitzpatrick PF.
europepmc   +1 more source

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

, 1997
Emre Kayaalp, Eileen P. Treacy, Paula J. Waters, Susan Byck, Piotr Nowacki, Charles R. Scriver   +5 more
openalex   +1 more source

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene [PDF]

, 2003
Haruo Shintaku, Shigeo Kure, Toshihiro Ohura, Yoshiyuki Okano, Misao Ohwada, Naruji Sugiyama, Nobuo Sakura, Ichiro Yoshida, Makoto Yoshino, Yoichi Matsubara, Ken Suzuki, Kikumaro Aoki, Teruo Kitagawa   +12 more
openalex   +1 more source

Metabolic engineering as therapy for inborn errors of metabolism – development of mice with phenylalanine hydroxylase expression in muscle

, 1998
CO Harding, Krzysztof Wild, David Chang, Albee Messing, JA Wolff   +4 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

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations [PDF]

, 2004
Heidi Erlandsen, Ángel L. Pey, Alejandra Gámez, Belén Pérez, Lourdes R. Desviat, Cristina Aguado, Richard Koch, Sankar Surendran, Stephen K. Tyring, Reuben Matalon, Charles R. Scriver, Magdalena Ugarte, Aurora Martı́nez, Raymond C. Stevens   +13 more
openalex   +1 more source