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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. Wang S, et al. BMC Med Genomics. 2023 Jun 26;16(1):145. doi: 10.1186/s12920-023-01569-w. BMC Med Genomics. 2023. PMID: 37365635 Free PMC article. Review.
We studied the clinical and genotypic characteristics of children with childhood onset CPS1D caused by two loci mutations (one of these is a rarely reported non-frame shift mutation) in the CPS1. CASE PRESENTATION: We present a rare case of adolescent-onset CPS1D that had …
We studied the clinical and genotypic characteristics of children with childhood onset CPS1D caused by two loci mutations (one of these is a …
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
Diez-Fernandez C, Häberle J. Diez-Fernandez C, et al. Expert Opin Ther Targets. 2017 Apr;21(4):391-399. doi: 10.1080/14728222.2017.1294685. Epub 2017 Feb 20. Expert Opin Ther Targets. 2017. PMID: 28281899 Review.
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. ...Areas covered: After describing UCDs and CPS1D, we give an overview of the structure- function of CP …
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to …
Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases.
Zhang L, Zou Y, Lu Y, Li Z, Gao F. Zhang L, et al. Bioorg Chem. 2023 Jan;130:106253. doi: 10.1016/j.bioorg.2022.106253. Epub 2022 Nov 5. Bioorg Chem. 2023. PMID: 36356370 Review.
In particular, CPS1 expression varies among cancers, being overexpressed in some cancers and downregulated in others, suggesting that CPS1 may be a promising cancer therapeutic target. ...In this review, we describe the structure and function of CPS1, highlig …
In particular, CPS1 expression varies among cancers, being overexpressed in some cancers and downregulated in others, suggesting that …
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
Martínez AI, Pérez-Arellano I, Pekkala S, Barcelona B, Cervera J. Martínez AI, et al. Mol Genet Metab. 2010 Dec;101(4):311-23. doi: 10.1016/j.ymgme.2010.08.002. Epub 2010 Aug 6. Mol Genet Metab. 2010. PMID: 20800523 Review.
CPS1 deficiency (CPS1D) is an autosomal recessive inborn error which leads to hyperammonemia due to mutations in the CPS1 gene, or is caused secondarily by lack of its allosteric activator NAG. ...Recent availability of CPS1 expression systems also can provid …
CPS1 deficiency (CPS1D) is an autosomal recessive inborn error which leads to hyperammonemia due to mutations in the CPS1 gene …
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. Pekkala S, et al. Hum Mutat. 2010 Jul;31(7):801-8. doi: 10.1002/humu.21272. Hum Mutat. 2010. PMID: 20578160
Carbamoyl-phosphate synthetase I (CPS1) deficiency (CPS1D), a recessively inherited urea cycle error due to CPS1 gene mutations, causes life-threatening hyperammonemia. The disease-causing potential of missense mutations in CPS1 deficiency can be ascertained …
Carbamoyl-phosphate synthetase I (CPS1) deficiency (CPS1D), a recessively inherited urea cycle error due to CPS1 gene mutation …
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. Diez-Fernandez C, et al. Hum Mutat. 2013 Aug;34(8):1149-59. doi: 10.1002/humu.22349. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649895 Free article.
To test the mutations effects, we have developed a system for recombinant expression, mutagenesis, and purification of human carbamoyl-phosphate synthetase 1 (CPS1), a very large, complex, and fastidious enzyme. The kinetic and molecular properties of recombinant CPS1 …
To test the mutations effects, we have developed a system for recombinant expression, mutagenesis, and purification of human carbamoyl-phosp …
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. Zhang S, et al. Int J Radiat Oncol Biol Phys. 2023 Apr 1;115(5):1244-1256. doi: 10.1016/j.ijrobp.2022.11.022. Epub 2022 Nov 22. Int J Radiat Oncol Biol Phys. 2023. PMID: 36423742
We identified the role of urea cycle key enzyme carbamoyl phosphate synthetase 1 (CPS1) in radioresistance of HCC and explored its mechanism, aiming to provide a novel radiosensitization strategy for the CPS1-deficiency HCC subtype. ...Functionally, the present stud …
We identified the role of urea cycle key enzyme carbamoyl phosphate synthetase 1 (CPS1) in radioresistance of HCC and explored its me …
CPS1: Looking at an ancient enzyme in a modern light.
Nitzahn M, Lipshutz GS. Nitzahn M, et al. Mol Genet Metab. 2020 Nov;131(3):289-298. doi: 10.1016/j.ymgme.2020.10.003. Epub 2020 Oct 10. Mol Genet Metab. 2020. PMID: 33317798 Free PMC article. Review.
Symptoms in CPS1 deficiency are typically the most severe of all UC disorders, and current clinical management is insufficient to prevent the associated morbidities and high mortality. ...Here, we review recent advances in CPS1 biology and contextualize them around …
Symptoms in CPS1 deficiency are typically the most severe of all UC disorders, and current clinical management is insufficient to pre …
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. Díez-Fernández C, et al. Mol Genet Metab. 2014 Jun;112(2):123-32. doi: 10.1016/j.ymgme.2014.04.003. Epub 2014 Apr 18. Mol Genet Metab. 2014. PMID: 24813853 Free article.
Our data strongly support the value of the present expression system for ascertaining the disease-causing potential of CPS1 mutations, provided that the CPS1 yield is monitored. The observed effects of the mutations have been rationalized on the basis of an existing …
Our data strongly support the value of the present expression system for ascertaining the disease-causing potential of CPS1 mutations …
Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.
Zhang Z, Tong F, Chen C, Zhang T, Qian G, Yang X, Huang X, Yang R, Zhao Z. Zhang Z, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Nov 14;52(6):721-726. doi: 10.3724/zdxbyxb-2023-0359. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 37986659 Free PMC article. Chinese, English.
RESULTS: A total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and genetic testing. ...RESULTS: A total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and ge …
RESULTS: A total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and genetic tes …
44 results