Results 141 to 150 of about 104,062 (224)

Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023
Sun M, Li Y, Li P, Li G, Yan Y, Zou H.
europepmc   +1 more source

DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate-Dependent Activation. [PDF]

FASEB J
Tai MDS, Kråkenes TA, Gamiz-Arco G, Didriksen CF, Kallio JP, Flydal MI, Moro F, Martinez A.   +7 more
europepmc   +1 more source

Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites

, 1986
Screening of a rat liver cDNA expression library constructed in the vector λgt11 with an affinity purified antiserum to rat phenylalanine hydroxylase has resulted in the isolation of two clones which contain the complete coding region (1362 base pairs ...
HHM Dahl (14574527), Julian Mercer (13076475)   +1 more
core  

Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria. [PDF]

FASEB J
Chaturvedi S, Mishra S, Pandya N, Kumar S, Negi R, Singh S, Patel Y, Tiwari S, Patel A, Gupta RK, Mishra SK, Singh A, Tripathi G, Tripathi A, Kumar A, Dubey PK.   +15 more
europepmc   +1 more source

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

ANALYTICAL METHODS DEVELOPMENT FOR THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM [PDF]

, 2008
Veneziano, Maria
core   +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

Exploring Subpopulations for Epidemiological Precision Nutrition Research: The Example of <i>Phenylalanine Hydroxylase (PAH)</i> Genetic Variation. [PDF]

Nutrients
Dhawan A, Khan SM, Fennell ML, Cho CE, Monk JM, Keathley JR.   +5 more
europepmc   +1 more source

Changes in tyrosine hydroxylase and dopamine-β-hydroxylase activities during degeneration of noradrenergic axons produced by antibodies to dopamine-β-hydroxylase

, 1976
Changes in tyrosine hydroxylase and dopamine-β-hydroxylase activities during degeneration of noradrenergic axons produced by antibodies to dopamine-β ...
LB Geffen (14727886), M Costa (7774499), John Furness (13070439), RA Rush (19461862)   +3 more
core  

Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria. [PDF]

EXCLI J
Yang F, Li HF, Tang WJ, Zhu JP, Qiu JG, Cai TE, Yu LM, Yu Y.   +7 more
europepmc   +1 more source