446 related articles for article (PubMed ID: 29331172)
1. Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice.
Winn SR; Scherer T; Thöny B; Ying M; Martinez A; Weber S; Raber J; Harding CO
Mol Genet Metab; 2018 Jan; 123(1):6-20. PubMed ID: 29331172
[TBL] [Abstract][Full Text] [Related]
2. High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).
Winn SR; Scherer T; Thöny B; Harding CO
Mol Genet Metab; 2016 Jan; 117(1):5-11. PubMed ID: 26653793
[TBL] [Abstract][Full Text] [Related]
3. Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.
Scherer T; Allegri G; Sarkissian CN; Ying M; Grisch-Chan HM; Rassi A; Winn SR; Harding CO; Martinez A; Thöny B
J Inherit Metab Dis; 2018 Jul; 41(4):709-718. PubMed ID: 29520738
[TBL] [Abstract][Full Text] [Related]
4. Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice.
Winn SR; Dudley S; Scherer T; Rimann N; Thöny B; Boutros S; Krenik D; Raber J; Harding CO
Mol Genet Metab; 2022 May; 136(1):46-64. PubMed ID: 35339387
[TBL] [Abstract][Full Text] [Related]
5. Comparative metabolomics in the Pah
Dobrowolski SF; Phua YL; Sudano C; Spridik K; Zinn PO; Wang Y; Bharathi S; Vockley J; Goetzman E
Mol Genet Metab; 2022 May; 136(1):38-45. PubMed ID: 35367142
[TBL] [Abstract][Full Text] [Related]
6. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Anikster Y; Haack TB; Vilboux T; Pode-Shakked B; Thöny B; Shen N; Guarani V; Meissner T; Mayatepek E; Trefz FK; Marek-Yagel D; Martinez A; Huttlin EL; Paulo JA; Berutti R; Benoist JF; Imbard A; Dorboz I; Heimer G; Landau Y; Ziv-Strasser L; Malicdan MCV; Gemperle-Britschgi C; Cremer K; Engels H; Meili D; Keller I; Bruggmann R; Strom TM; Meitinger T; Mullikin JC; Schwartz G; Ben-Zeev B; Gahl WA; Harper JW; Blau N; Hoffmann GF; Prokisch H; Opladen T; Schiff M
Am J Hum Genet; 2017 Feb; 100(2):257-266. PubMed ID: 28132689
[TBL] [Abstract][Full Text] [Related]
7. DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.
Dobrowolski SF; Lyons-Weiler J; Spridik K; Vockley J; Skvorak K; Biery A
Mol Genet Metab; 2016 Sep; 119(1-2):1-7. PubMed ID: 26822703
[TBL] [Abstract][Full Text] [Related]
8. Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pah
Dobrowolski SF; Sudano C; Phua YL; Tourkova IL; Spridik K; Goetzman ES; Vockley J; Blair HC
Mol Genet Metab; 2021 Mar; 132(3):173-179. PubMed ID: 33602601
[TBL] [Abstract][Full Text] [Related]
9. Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice.
Harding CO; Neff M; Jones K; Wild K; Wolff JA
J Gene Med; 2003 Nov; 5(11):984-93. PubMed ID: 14601136
[TBL] [Abstract][Full Text] [Related]
10. Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
Fiori E; Oddi D; Ventura R; Colamartino M; Valzania A; D'Amato FR; Bruinenberg V; van der Zee E; Puglisi-Allegra S; Pascucci T
PLoS One; 2017; 12(8):e0183430. PubMed ID: 28850618
[TBL] [Abstract][Full Text] [Related]
11. In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria.
Pascucci T; Giacovazzo G; Andolina D; Conversi D; Cruciani F; Cabib S; Puglisi-Allegra S
J Inherit Metab Dis; 2012 Nov; 35(6):1001-9. PubMed ID: 22447154
[TBL] [Abstract][Full Text] [Related]
12. Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice.
Mochizuki S; Mizukami H; Ogura T; Kure S; Ichinohe A; Kojima K; Matsubara Y; Kobayahi E; Okada T; Hoshika A; Ozawa K; Kume A
Gene Ther; 2004 Jul; 11(13):1081-6. PubMed ID: 15057263
[TBL] [Abstract][Full Text] [Related]
13. Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU).
Harding CO; Winn SR; Gibson KM; Arning E; Bottiglieri T; Grompe M
J Inherit Metab Dis; 2014 Sep; 37(5):735-43. PubMed ID: 24487571
[TBL] [Abstract][Full Text] [Related]
14. A bone mineralization defect in the Pah
Dobrowolski SF; Tourkova IL; Robinson LJ; Secunda C; Spridik K; Blair HC
Mol Genet Metab; 2018 Nov; 125(3):193-199. PubMed ID: 30201326
[TBL] [Abstract][Full Text] [Related]
15. Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pah(enu2) mice.
Sawin EA; Murali SG; Ney DM
Mol Genet Metab; 2014 Apr; 111(4):452-61. PubMed ID: 24560888
[TBL] [Abstract][Full Text] [Related]
16. Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer.
Oh HJ; Park ES; Kang S; Jo I; Jung SC
Pediatr Res; 2004 Aug; 56(2):278-84. PubMed ID: 15181195
[TBL] [Abstract][Full Text] [Related]
17. Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice.
van Vliet D; Bruinenberg VM; Mazzola PN; van Faassen MH; de Blaauw P; Kema IP; Heiner-Fokkema MR; van Anholt RD; van der Zee EA; van Spronsen FJ
PLoS One; 2015; 10(12):e0143833. PubMed ID: 26624009
[TBL] [Abstract][Full Text] [Related]
18. Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase).
Goldfinger M; Zeile WL; Corado CR; O'Neill CA; Tsuruda LS; Laipis PJ; Cooper JD
Mol Genet Metab; 2017 Sep; 122(1-2):33-35. PubMed ID: 28506393
[TBL] [Abstract][Full Text] [Related]
19. Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).
Hamman KJ; Winn SR; Harding CO
Mol Genet Metab; 2011 Nov; 104(3):235-40. PubMed ID: 21917493
[TBL] [Abstract][Full Text] [Related]
20. Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.
Calvo AC; Scherer T; Pey AL; Ying M; Winge I; McKinney J; Haavik J; Thöny B; Martinez A
J Neurochem; 2010 Aug; 114(3):853-63. PubMed ID: 20492352
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]