PMC Links for GEO Profiles (Select 118114572) - PMC

Select item 60763381.

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

Suhail Khoja, Matt Nitzahn, Kip Hermann, Brian Truong, Roberta Borzone, Brandon Willis, Mitchell Rudd, Donna J. Palmer, Philip Ng, Nicola Brunetti-Pierri, Gerald S. Lipshutz

Mol Genet Metab. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Mol Genet Metab. 2018 Aug; 124(4): 243–253. Published online 2018 Apr 12. doi: 10.1016/j.ymgme.2018.04.001

PMCID:: PMC6076338

Abstract Article PDF–817K

Select item 48610852.

Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations

Johannes Häberle, Oleg A. Shchelochkov, Jing Wang, Panagiotis Katsonis, Lynn Hall, Sara Reiss, Angela Eeds, Alecia Willis, Meeta Yadav, Samantha Summar, and the Urea Cycle Disorders Consortium, Olivier Lichtarge, Vicente Rubio, Lee-Jun Wong, Marshall Summar

Hum Mutat. Author manuscript; available in PMC 2016 May 9.

Published in final edited form as: Hum Mutat. 2011 Jun; 32(6): 579–589. Published online 2011 May 5. doi: 10.1002/humu.21406

PMCID:: PMC4861085

Abstract Article PDF–1.9M

Select item 43550353.

Isoaspartate, Carbamoyl phosphate synthase-1, and Carbonic anhydrase-III as biomarkers of liver injury

Wayne G. Carter, Vasanthy Vigneswara, Anna Newlaczyl, Declan Wayne, Bilal Ahmed, Stephen Saddington, Charlotte Brewer, Nikhilesh Raut, Henry K. Gerdes, Amaia M. Erdozain, David Tooth, Edward L. Bolt, Natalie A. Osna, Dean J. Tuma, Kusum K. Kharbanda

Biochem Biophys Res Commun. Author manuscript; available in PMC 2016 Mar 13.

Published in final edited form as: Biochem Biophys Res Commun. 2015 Mar 13; 458(3): 626–631. Published online 2015 Feb 13. doi: 10.1016/j.bbrc.2015.01.158

PMCID:: PMC4355035

Abstract Article PDF–1.6M

Select item 33596194.

Protein tyrosine nitration of mitochondrial carbamoyl phosphate synthetase 1 and its functional consequences

Hideo Takakusa, Isaac Mohar, Terrance J. Kavanagh, Edward J. Kelly, Rüdiger Kaspera, Sidney D. Nelson

Biochem Biophys Res Commun. Author manuscript; available in PMC 2013 Mar 30.

Published in final edited form as: Biochem Biophys Res Commun. 2012 Mar 30; 420(1): 54–60. Published online 2012 Feb 28. doi: 10.1016/j.bbrc.2012.02.114

PMCID:: PMC3359619

Abstract Article PDF–1.2M

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 30701776.

Mitochondrial dysfunction precedes insulin resistance and hepatic steatosis and contributes to the natural history of non-alcoholic fatty liver disease in an obese rodent model

R. Scott Rector, John P. Thyfault, Grace M. Uptergrove, E. Matthew Morris, Scott P. Naples, Sarah J. Borengasser, Catherine R. Mikus, Matthew J. Laye, M. Harold Laughlin, Frank W. Booth, Jamal A. Ibdah

J Hepatol. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: J Hepatol. 2010 May; 52(5): 727–736. Published online 2010 Mar 4. doi: 10.1016/j.jhep.2009.11.030

PMCID:: PMC3070177

Abstract Article PDF–2.6M

Select item 27451767.

Novel Associations of CPS1, MUT, NOX4 and DPEP1 with Plasma Homocysteine in a Healthy Population: A Genome Wide Evaluation of 13,974 Participants in the Women’s Genome Health Study

Guillaumé Pare, Daniel I. Chasman, Alexander N. Parker, Robert R.Y. Zee, Anders Mälarstig, Udo Seedorf, Rory Collins, Hugh Watkins, Anders Hamsten, Joseph P. Miletich, Paul M. Ridker

Circ Cardiovasc Genet. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Circ Cardiovasc Genet. 2009 Jan 1; 2(2): 142–150. doi: 10.1161/CIRCGENETICS.108.829804

PMCID:: PMC2745176

Abstract Article PDF–713K

Select item 16268448.

Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.

N J Hoogenraad, J D Mitchell, N A Don, T M Sutherland, A C Mc Leay

Arch Dis Child. 1980 Apr; 55(4): 292–295. doi: 10.1136/adc.55.4.292

PMCID:: PMC1626844

Summary Page Browse PDF–596K

Select item 11526719.

Decreased urea synthesis in cafeteria-diet-induced obesity in the rat.

T Barber, J R Viña, J Viña, J Cabo

Biochem J. 1985 Sep 15; 230(3): 675–681. doi: 10.1042/bj2300675

PMCID:: PMC1152671

Summary Page Browse PDF–990K

Select item 28818110.

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

R Hoshide, T Matsuura, Y Haraguchi, F Endo, M Yoshinaga, I Matsuda

J Clin Invest. 1993 May; 91(5): 1884–1887. doi: 10.1172/JCI116405

PMCID:: PMC288181

Summary Page Browse PDF–890K

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