Results 151 to 160 of about 16,453 (233)

Mutagenesis of the regulatory domain of phenylalanine hydroxylase [PDF]

, 2001
Guoan Wang, Peide Gu, Seymour Kaufman
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

A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family

, 1992
Sandra E. Kleiman, Gerard Schwartz, Savio L.C. Woo, Yosef Shiloh   +3 more
openalex   +1 more source

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

Embryonic but Not Postnatal Reexpression of Hepatocyte Nuclear Factor 1α (HNF1α) Can Reactivate the Silent Phenylalanine Hydroxylase Gene in HNF1α-Deficient Hepatocytes [PDF]

, 2001
Benoı̂t Viollet, Moshé Yaniv, Marco Pontoglio   +2 more
openalex   +1 more source

Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria

Stem Cell Research
Phenylketonuria is a rare autosomal recessive metabolic disorder mainly due to a significant reduction in the enzyme phenylalanine hydroxylase, resulting in elevation of phenylalanine in the blood. Here, we have established two fibroblast-derived induced
Desi Veleva, Merve Ay, Dmitry A. Ovchinnikov, Andrew B.J. Prowse, Minal J. Menezes, Michael Nafisinia   +5 more
doaj  

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

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

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

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