Results 111 to 120 of about 165,999 (264)

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients [PDF]

, 2018
Phenylketonuria (PKU, MIM 261600) is an autosomal recessive disorder caused by mutations of the phenylalanine hydroxylase gene (PAH, GenBank U49897.1, RefSeq NM_000277). To date more than 560 variants of the PAH gene have been identified. In Europe there
Brunner-Krainz, Michaela, Karall, Daniela, Konstantopoulou, Vassiliki, Lagler, Florian, Möslinger, Dorothea, Paschke, Eduard, Paul, Karl, Plecko, Barbara, Scholl-Bürgi, Sabine, Sperl, Wolfgang, Sterl, Elisabeth, Windisch, Eva, Zschocke, Johannes   +12 more
core  

Manipulation of a cation-π sandwich reveals conformational flexibility in phenylalanine hydroxylase. [PDF]

Biochimie, 2021
Arturo EC, Merkel GW, Hansen MR, Lisowski S, Almeida D, Gupta K, Jaffe EK.   +6 more
europepmc   +1 more source

Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives. [PDF]

Biomolecules, 2021
Lopes RR, Tomé CS, Russo R, Paterna R, Leandro J, Candeias NR, Gonçalves LMD, Teixeira M, Sousa PMF, Guedes RC, Vicente JB, Gois PMP, Leandro P.   +12 more
europepmc   +1 more source

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

The inactivation of phenylalanine hydroxylase by 2-amino-4-hydroxy-6,7-dimethyltetrahydropteridine and the aerobic oxidation of the latter. The effects of catalase, dithiothreitol and reduced nicotinamide–adenine dinucleotide [PDF]

, 1971
Alexander Jakubovič, L. I. Woolf, E. Chan-Henry   +2 more
openalex   +1 more source

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response [PDF]

, 2017
The discovery of a pharmacological treatment for phenylketonuria (PKU) raised new questions about function and dysfunction of phenylalanine hydroxylase (PAH), the enzyme deficient in this disease.
Blau, Nenad, Danecka, Marta K., Gersting, Søren W., Kemter, Kristina F., Messing, Dunja D., Muntau, Ania C., Pinkas, Daniel, Staudigl, Michael, Woidy, Mathias   +8 more
core  

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

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology. [PDF]

Biosci Rep, 2021
Qiang R, Wang L, He J, Xu WJ, Li W, Cai N, Wang XB, Zhang R, Zhang LP, Ma XP, Wei C, Song C, Yu W, Wang X, Li X.   +14 more
europepmc   +1 more source

Glucagon stimulation of rat hepatic phenylalanine hydroxylase through phosphorylation in vivo.

, 1978
J. Donlon, Seymour Kaufman
openalex   +1 more source

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase. [PDF]

Nat Commun, 2021
Aubi O, Prestegård KS, Jung-Kc K, Shi TS, Ying M, Grindheim AK, Scherer T, Ulvik A, McCann A, Spriet E, Thöny B, Martinez A.   +11 more
europepmc   +1 more source