149 related articles for article (PubMed ID: 36356370)
1. Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases.
Zhang L; Zou Y; Lu Y; Li Z; Gao F
Bioorg Chem; 2023 Jan; 130():106253. PubMed ID: 36356370
[TBL] [Abstract][Full Text] [Related]
2. Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Khoja S; Nitzahn M; Hermann K; Truong B; Borzone R; Willis B; Rudd M; Palmer DJ; Ng P; Brunetti-Pierri N; Lipshutz GS
Mol Genet Metab; 2018 Aug; 124(4):243-253. PubMed ID: 29801986
[TBL] [Abstract][Full Text] [Related]
3. The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
Díez-Fernández C; Gallego J; Häberle J; Cervera J; Rubio V
J Genet Genomics; 2015 May; 42(5):249-60. PubMed ID: 26059772
[TBL] [Abstract][Full Text] [Related]
4. Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.
Díez-Fernández C; Hu L; Cervera J; Häberle J; Rubio V
Mol Genet Metab; 2014 Jun; 112(2):123-32. PubMed ID: 24813853
[TBL] [Abstract][Full Text] [Related]
5. Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
Diez-Fernandez C; Häberle J
Expert Opin Ther Targets; 2017 Apr; 21(4):391-399. PubMed ID: 28281899
[TBL] [Abstract][Full Text] [Related]
6. Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.
de Cima S; Polo LM; Díez-Fernández C; Martínez AI; Cervera J; Fita I; Rubio V
Sci Rep; 2015 Nov; 5():16950. PubMed ID: 26592762
[TBL] [Abstract][Full Text] [Related]
7. Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
Diez-Fernandez C; Martínez AI; Pekkala S; Barcelona B; Pérez-Arellano I; Guadalajara AM; Summar M; Cervera J; Rubio V
Hum Mutat; 2013 Aug; 34(8):1149-59. PubMed ID: 23649895
[TBL] [Abstract][Full Text] [Related]
8. Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
Martínez AI; Pérez-Arellano I; Pekkala S; Barcelona B; Cervera J
Mol Genet Metab; 2010 Dec; 101(4):311-23. PubMed ID: 20800523
[TBL] [Abstract][Full Text] [Related]
9. Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Zhang S; Hu Y; Wu Z; Zhou X; Wu T; Li P; Lian Q; Xu S; Gu J; Chen L; Wu G; Zhang T; Tang J; Xue J
Int J Radiat Oncol Biol Phys; 2023 Apr; 115(5):1244-1256. PubMed ID: 36423742
[TBL] [Abstract][Full Text] [Related]
10. CPS1: Looking at an ancient enzyme in a modern light.
Nitzahn M; Lipshutz GS
Mol Genet Metab; 2020 Nov; 131(3):289-298. PubMed ID: 33317798
[TBL] [Abstract][Full Text] [Related]
11. Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Nitzahn M; Allegri G; Khoja S; Truong B; Makris G; Häberle J; Lipshutz GS
Mol Ther; 2020 Jul; 28(7):1717-1730. PubMed ID: 32359471
[TBL] [Abstract][Full Text] [Related]
12. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.
Choi Y; Oh A; Lee Y; Kim GH; Choi JH; Yoo HW; Lee BH
Clin Chim Acta; 2022 Feb; 526():55-61. PubMed ID: 34973183
[TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.
Wang S; Chen J; Zhu X; Huang T; Xu H; Ying G; Qian H; Lin W; Tung Y; Khan KU; Guo H; Zheng G; Lu H; Zhang G
BMC Med Genomics; 2023 Jun; 16(1):145. PubMed ID: 37365635
[TBL] [Abstract][Full Text] [Related]
14. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
Gragnaniello V; Gueraldi D; Puma A; Commone A; Loro C; Cazzorla C; Häberle J; Burlina AB
J Pediatr Endocrinol Metab; 2023 Sep; 36(9):873-878. PubMed ID: 37427576
[TBL] [Abstract][Full Text] [Related]
15. Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.
Laemmle A; Hahn D; Hu L; Rüfenacht V; Gautschi M; Leibundgut K; Nuoffer JM; Häberle J
Mol Genet Metab; 2015 Mar; 114(3):438-44. PubMed ID: 25639153
[TBL] [Abstract][Full Text] [Related]
16. Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
Pekkala S; Martínez AI; Barcelona B; Yefimenko I; Finckh U; Rubio V; Cervera J
Hum Mutat; 2010 Jul; 31(7):801-8. PubMed ID: 20578160
[TBL] [Abstract][Full Text] [Related]
17. Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Hu L; Diez-Fernandez C; Rüfenacht V; Hismi BÖ; Ünal Ö; Soyucen E; Çoker M; Bayraktar BT; Gunduz M; Kiykim E; Olgac A; Pérez-Tur J; Rubio V; Häberle J
Mol Genet Metab; 2014 Dec; 113(4):267-73. PubMed ID: 25410056
[TBL] [Abstract][Full Text] [Related]
18. Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
Fan L; Zhao J; Jiang L; Xie L; Ma J; Li X; Cheng M
J Clin Lab Anal; 2020 Apr; 34(4):e23124. PubMed ID: 31749211
[TBL] [Abstract][Full Text] [Related]
19. Small Molecule Inhibition of CPS1 Activity through an Allosteric Pocket.
Yao S; Nguyen TV; Rolfe A; Agrawal AA; Ke J; Peng S; Colombo F; Yu S; Bouchard P; Wu J; Huang KC; Bao X; Omoto K; Selvaraj A; Yu L; Ioannidis S; Vaillancourt FH; Zhu P; Larsen NA; Bolduc DM
Cell Chem Biol; 2020 Mar; 27(3):259-268.e5. PubMed ID: 32017919
[TBL] [Abstract][Full Text] [Related]
20. Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
Choi R; Park HD; Yang M; Ki CS; Lee SY; Kim JW; Song J; Chang YS; Park WS
Ann Lab Med; 2017 Jan; 37(1):58-62. PubMed ID: 27834067
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]