| 1 | CPS1
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| Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.
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| de Cima S, Polo LM, Díez-Fernández C, Martínez AI, Cervera J, Fita I, Rubio V.
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| Sci Rep 5:16950. doi: 10.1038/srep16950.
2015
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| 2 | CPS1, CPS1D
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| Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
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| Ali EZ, Khalid MK, Yunus ZM, Yakob Y, Chin CB, Latif KA, Hock NL.
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| Eur J Pediatr ur J Pediatr. 2015 Oct 6. [Epub ahead of print]
2015
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| 3 | CPS1, NAGS
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| The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms.
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| Shi D, Allewell NM, Tuchman M.
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| Int J Mol Sci 16(6):13004-22. doi: 10.3390/ijms160613004.
2015
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| 4 | CPS1, CPS1D
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| The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
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| Díez-Fernández C, Gallego J, Häberle J, Cervera J, Rubio V.
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| J Genet Genomics 42(5):249-60. doi: 10.1016/j.jgg.2015.03.009. Epub 2015 Apr 1.
2015
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| 5 | CPS1
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| Carbamoyl phosphate synthetase-1 is a rapid turnover biomarker in mouse and human acute liver injury.
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| Weerasinghe SV, Jang YJ, Fontana RJ, Omary MB.
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| Am J Physiol Gastrointest Liver Physiol 307(3):G355-64. doi: 10.1152/ajpgi.00303.2013. Epub 2014 Jun 12.
2014
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| 6 | CPS1
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| 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.
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| Díez-Fernández C, Hu L, Cervera J, Häberle J, Rubio V.
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| Mol Genet Metab 112(2):123-32. doi: 10.1016/j.ymgme.2014.04.003. Epub 2014 Apr 18.
2014
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| 7 | CPS1
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| Protein tyrosine nitration of mitochondrial carbamoyl phosphate synthetase 1 and its functional consequences.
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| Takakusa H, Mohar I, Kavanagh TJ, Kelly EJ, Kaspera R, Nelson SD.
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| Biochem Biophys Res Commun 420(1):54-60. doi: 10.1016/j.bbrc.2012.02.114. Epub 2012 Feb 28.
2012
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| 8 | CPS1
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| Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains.
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| Lopes-Marques M, Igrejas G, Amorim A, Azevedo L.
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| Biochem Biophys Res Commun 421(3):409-12. doi: 10.1016/j.bbrc.2012.04.033. Epub 2012 Apr 10. Review.
2012
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| 9 | CPS1, NAGS
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| Transcriptional regulation of N-acetylglutamate synthase.
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| Heibel SK, Lopez GY, Panglao M, Sodha S, Mariño-Ramírez L, Tuchman M, Caldovic L.
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| PLoS One 7(2):e29527. doi: 10.1371/journal.pone.0029527. Epub 2012 Feb 27.
2012
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| 10 | CPS1
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| DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma.
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| Liu H, Dong H, Robertson K, Liu C.
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| Am J Pathol 178(2):652-61.
2011
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| 11 | CPS1, CPS1D
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| Molecular characterization of CPS1 deletions by array CGH.
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| Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ.
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| Mol Genet Metab 102(1):103-6. Epub 2010 Sep 19.
2011
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| 12 | CPS1, SIRT5
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| Overexpression of SIRT5 confirms its involvement in deacetylation and activation of carbamoyl phosphate synthetase 1.
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| Ogura M, Nakamura Y, Tanaka D, Zhuang X, Fujita Y, Obara A, Hamasaki A, Hosokawa M, Inagaki N.
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| Biochem Biophys Res Commun 393(1):73-8. Epub 2010 Jan 25.
2010
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| 13 | CPS1, CPS1D
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| Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
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| Martínez AI, Pérez-Arellano I, Pekkala S, Barcelona B, Cervera J.
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| Mol Genet Metab 101(4):311-23. Epub 2010 Aug 6. Review.
2010
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| 14 | CPS1, SIRT5
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| SIRT5 Deacetylates carbamoyl phosphate synthetase 1 and regulates the urea cycle.
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| Nakagawa T, Lomb DJ, Haigis MC, Guarente L.
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| Cell 137(3):560-70. 2009
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| 15 | CPS1
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| Loss of carbamoyl phosphate synthetase I in small-intestinal adenocarcinoma.
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| Cardona DM, Zhang X, Liu C.
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| Am J Clin Pathol 132(6):877-82.
2009
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| 16 | CPS1, CPS1D
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| Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
|
| Klaus V, Vermeulen T, Minassian B, Israelian N, Engel K, Lund AM, Roebrock K, Christensen E, Häberle J.
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| Clin Genet 76(3):263-9.
2009
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| 17 | CPS1, CPS1D
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| Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
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| Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T.
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| J Hum Genet 52(4):349-54. Epub 2007 Feb 20. 2007
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| 18 | CPS1
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| Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis.
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| Huo R, Zhu H, Lu L, Ying L, Xu M, Xu Z, Li J, Zhou Z, Sha J.
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| J Biochem Mol Biol 38(1):28-33. 2005
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| 19 | CPS1, CPS1D
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| Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
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| Haberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch HG.
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| Hum Mutat 21(4):444. 2003
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| 20 | CPS1
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| Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.
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| Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP.
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| Gene 311:51-7. 2003
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| 21 | CPS1D, CPS1
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| Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
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| Aoshima T, Kajita M, Sekido Y, Kikuchi S, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T.
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| Hum Hered 52(2):99-101. No abstract available. 2001
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| 22 | CPS1, CPS1D
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| Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
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| Finckh U, et al.
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| Hum Mutat 12 : 206-211. 1998
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| 23 | CPS1, CPS1D
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| Molecular genetic research into carbamoyl-phosphate synthase I : molecular defects and linkage markers.
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| Summar ML.
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| J Inherit Metab Dis 21 : 30-39. 1998
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| 24 | CPS1
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| Physical and linkage mapping of human carbamyl phosphate synthetase I(CPS1) and reassignment from 2p to 2q35.
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| Summar ML, et al.
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| Cytogenet Cell Genet 71 : 266-267. 1995
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| 25 | CPS1
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| Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization.
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| Hoshide R, et al.
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| Genomics 28 : 124-125. 1995
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| 26 | CPS1
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| Clustering of mutations in the carbamyl phosphate synthetase I gene. (abstr)
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| Summar ML, et al.
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| Am J Hum Genet 55 : A244. 1994
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| 27 | CPS1, CPS1D
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| Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS1 gene causes a 9-basepair deletion due to aberrant splicing.
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| Hoshide R, et al.
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| J Clin Invest 91 : 1884-1887. 1993
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| 28 | CPS1
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| Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.
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| Haraguchi Y, et al.
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| Gene 107 : 335-340. 1991
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| 29 | CPS1
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| Linkage of the human carbamylphosphate synthetase I locus to carbamylphosphate synthetase I deficiency and to loci on human chromosome 2.
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| Summar ML, et al.
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| Am J Hum Genet 47 : A167. 1990
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| 30 | OTC, CPS1, ARG1, ASL, CTLN1
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| Mammalian urea cycle enzymes.
|
| Jackson MJ, et al.
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| Annu Rev Genet 20 : 431-464. 1986
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| 31 | CPS1
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| Genetic analysis of carbamyl phosphate synthetase I deficiency.
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| Fearon ER, et al.
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| Hum Genet 70 : 207-210. 1985
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| 32 | CPS1
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| Molecular cloning of cDNA for rat and human carbamyl phosphate synthetase I.
|
| Adcock MW, et al.
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| J Biol Chem 259 : 13471-13476. 1984
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| 33 | CPS1
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| Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.
|
| Farriaux JP, et al.
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| Acta Paediatr Scand 66 : 529-534. 1977
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| 34 | CPS1
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| Congenital hyperammonemia: association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.
|
| Freeman JM, et al.
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| Arch Neurol 23 : 430-437. 1970
|