362 related articles for article (PubMed ID: 26592762)
21. The amidotransferase family of enzymes: molecular machines for the production and delivery of ammonia.
Raushel FM; Thoden JB; Holden HM
Biochemistry; 1999 Jun; 38(25):7891-9. PubMed ID: 10387030
[TBL] [Abstract][Full Text] [Related]
22. The smallest active carbamoyl phosphate synthetase was identified in the human gut archaeon Methanobrevibacter smithii.
Popa E; Perera N; Kibédi-Szabó CZ; Guy-Evans H; Evans DR; Purcarea C
J Mol Microbiol Biotechnol; 2012; 22(5):287-99. PubMed ID: 23107800
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Aoshima T; Kajita M; Sekido Y; Kikuchi S; Yasuda I; Saheki T; Watanabe K; Shimokata K; Niwa T
Hum Hered; 2001; 52(2):99-101. PubMed ID: 11474210
[No Abstract] [Full Text] [Related]
26. The activity of the carbamoyl phosphate synthase 1 promoter in human liver-derived cells is dependent on hepatocyte nuclear factor 3-beta.
Chen Z; Tang N; Wang X; Chen Y
J Cell Mol Med; 2017 Sep; 21(9):2036-2045. PubMed ID: 28272778
[TBL] [Abstract][Full Text] [Related]
27. Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
Soria LR; Nitzahn M; De Angelis A; Khoja S; Attanasio S; Annunziata P; Palmer DJ; Ng P; Lipshutz GS; Brunetti-Pierri N
J Inherit Metab Dis; 2019 Nov; 42(6):1128-1135. PubMed ID: 30724386
[TBL] [Abstract][Full Text] [Related]
28. Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
Ali EZ; Khalid MK; Yunus ZM; Yakob Y; Chin CB; Abd Latif K; Hock NL
Eur J Pediatr; 2016 Mar; 175(3):339-46. PubMed ID: 26440671
[TBL] [Abstract][Full Text] [Related]
29. Mutational analysis of carbamyl phosphate synthetase. Substitution of Glu841 leads to loss of functional coupling between the two catalytic domains of the synthetase subunit.
Guillou F; Liao M; Garcia-Espana A; Lusty CJ
Biochemistry; 1992 Feb; 31(6):1656-64. PubMed ID: 1737023
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
Srinivasan RC; Zabulica M; Hammarstedt C; Wu T; Gramignoli R; Kannisto K; Ellis E; Karadagi A; Fingerhut R; Allegri G; Rüfenacht V; Thöny B; Häberle J; Nuoffer JM; Strom SC
J Inherit Metab Dis; 2019 Nov; 42(6):1054-1063. PubMed ID: 30843237
[TBL] [Abstract][Full Text] [Related]
32. Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
Chen X; Yuan L; Sun M; Liu Q; Wu Y
J Clin Lab Anal; 2018 Jun; 32(5):e22375. PubMed ID: 29314318
[TBL] [Abstract][Full Text] [Related]
33. [Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency].
Zhang H; Lang Y; Zhang K; Li X; Liu Y; Gai Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):848-851. PubMed ID: 30512161
[TBL] [Abstract][Full Text] [Related]
34. A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.
Khoja S; Nitzahn M; Truong B; Lambert J; Willis B; Allegri G; Rüfenacht V; Häberle J; Lipshutz GS
J Inherit Metab Dis; 2019 Nov; 42(6):1044-1053. PubMed ID: 30835861
[TBL] [Abstract][Full Text] [Related]
35. Restricted passage of reaction intermediates through the ammonia tunnel of carbamoyl phosphate synthetase.
Huang X; Raushel FM
J Biol Chem; 2000 Aug; 275(34):26233-40. PubMed ID: 10950966
[TBL] [Abstract][Full Text] [Related]
36. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Funghini S; Donati MA; Pasquini E; Zammarchi E; Morrone A
Hum Mutat; 2003 Oct; 22(4):340-1. PubMed ID: 12955727
[TBL] [Abstract][Full Text] [Related]
37. Y-box binding protein-1 down-regulates expression of carbamoyl phosphate synthetase-I by suppressing CCAAT enhancer-binding protein-alpha function in mice.
Chen YR; Sekine K; Nakamura K; Yanai H; Tanaka M; Miyajima A
Gastroenterology; 2009 Jul; 137(1):330-40. PubMed ID: 19272383
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. The carbamoyl-phosphate synthase family and carbamate kinase: structure-function studies.
Rubio V; Cervera J
Biochem Soc Trans; 1995 Nov; 23(4):879-83. PubMed ID: 8654858
[No Abstract] [Full Text] [Related]
40. Generation of carbamoyl phosphate synthetase 1 reporter cell lines for the assessment of ammonia metabolism.
Wang Y; Chang L; Zhai J; Wu Q; Wang D; Wang Y
J Cell Mol Med; 2017 Dec; 21(12):3214-3223. PubMed ID: 28557353
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
