Carmen Díez-Fernández

Carmen Díez-Fernández

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Carmen Díez-Fernández

Carmen Díez-Fernández

Publications by authors named "Carmen Díez-Fernández"

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Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

J Inherit Metab Dis 2019 Feb 5. Epub 2019 Feb 5.

Division of Metabolism and Children Research Centre (CRC), University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12047DOI Listing
February 2019

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

Hum Mutat 2018 08 21;39(8):1029-1050. Epub 2018 Jun 21.

University Children's Hospital Zurich, Division of Metabolism and Children's Research Center, Zurich, Switzerland.

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http://doi.wiley.com/10.1002/humu.23545
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http://dx.doi.org/10.1002/humu.23545DOI Listing
August 2018

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.

J Inherit Metab Dis 2018 07 8;41(4):689-698. Epub 2018 Mar 8.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-018-0157-4DOI Listing
July 2018

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

Hum Mutat 2017 05 15;38(5):471-484. Epub 2017 Feb 15.

Division of Metabolism, University Children´s Hospital and Children's Research Center, Zurich, Switzerland.

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http://doi.wiley.com/10.1002/humu.23184
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http://dx.doi.org/10.1002/humu.23184DOI Listing
May 2017

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.

Expert Opin Ther Targets 2017 Apr 20;21(4):391-399. Epub 2017 Feb 20.

a Division of Metabolism , University Children's Hospital Zurich and Children's Research Center , Zurich , Switzerland.

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http://dx.doi.org/10.1080/14728222.2017.1294685DOI Listing
April 2017

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

J Med Genet 2016 10 10;53(10):710-9. Epub 2016 Jun 10.

Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.

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http://dx.doi.org/10.1136/jmedgenet-2016-103937DOI Listing
October 2016

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.

Biology (Basel) 2016 Oct 19;5(4). Epub 2016 Oct 19.

Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstr. 75, 8032 Zurich, Switzerland.

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http://dx.doi.org/10.3390/biology5040040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192420PMC
October 2016

Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.

Sci Rep 2015 Nov 23;5:16950. Epub 2015 Nov 23.

Instituto de Biomedicina de Valencia del Consejo Superior de Investigaciones Científicas (IBV-CSIC), Jaime Roig 11, 46010 Valencia, Spain.

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http://dx.doi.org/10.1038/srep16950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655335PMC
November 2015

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.

J Genet Genomics 2015 May 1;42(5):249-60. Epub 2015 Apr 1.

Institute for Biomedicine of Valencia of the Spanish Research Council, Valencia 46010, Spain; Centre for Biomedical Networking Research on Rare Diseases of the Carlos III Health Institute, Valencia 46010, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2015.03.009DOI Listing
May 2015

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.

Mol Genet Metab 2014 Dec 7;113(4):267-73. Epub 2014 Oct 7.

Division of Metabolism, University Children's Hospital, 8032 Zurich, Switzerland; Children's Research Center, 8032 Zurich, Switzerland; Neuroscience Center Zurich, University and ETH Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.09.014DOI Listing
December 2014

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.

Mol Genet Metab 2014 Jun 18;112(2):123-32. Epub 2014 Apr 18.

Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain; Group 739 of the Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER) del Instituto de Salud Carlos III, Spain. Electronic address:

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http://digital.csic.es/bitstream/10261/109003/1/MGM_CD.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400128
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http://dx.doi.org/10.1016/j.ymgme.2014.04.003DOI Listing
June 2014

Exploring epitopes of antibodies toward the human tryptophanyl-tRNA synthetase.

N Biotechnol 2010 May 11;27(2):129-37. Epub 2009 Nov 11.

Royal Institute of Technology, AlbaNova University Center, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.nbt.2009.11.001DOI Listing
May 2010

Induction of cardiac uncoupling protein-2 expression and adenosine 5'-monophosphate-activated protein kinase phosphorylation during early states of diet-induced obesity in mice.

Endocrinology 2007 Mar 2;148(3):924-31. Epub 2006 Nov 2.

Departamento de Farmacología, Tecnología y Desarrollo Farmacéutico, Facultad de Farmacia, Universidad San Pablo-Ceu, Urbanización Montepríncipe, Carretera de Boadilla del Monte km 5,3 Boadilla del Monte, 28668 Madrid, Spain.

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http://dx.doi.org/10.1210/en.2006-0914DOI Listing
March 2007

Morphine and yohimbine regulate midkine gene expression in the rat hippocampus.

Eur J Pharmacol 2007 Feb 14;557(2-3):147-50. Epub 2006 Nov 14.

Department of Molecular and Experimental Medicine and Cell Biology, The Scripps Research Institute, La Jolla, CA, USA.

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http://dx.doi.org/10.1016/j.ejphar.2006.11.024DOI Listing
February 2007

Choroid plexus epithelial cells co-express the long and short form of the leptin receptor.

Neurosci Lett 2006 Jan 2;393(2-3):269-72. Epub 2005 Nov 2.

Departamento de Farmacología, Tecnología y Desarrollo Farmacéutico, Facultad de Farmacia, Universidad San Pablo-CEU, Madrid, Spain.

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http://dx.doi.org/10.1016/j.neulet.2005.10.003DOI Listing
January 2006

The alpha2-adrenoceptor antagonist yohimbine reduces glial fibrillary acidic protein upregulation induced by chronic morphine administration.

Neurosci Lett 2005 Jul 22-29;383(1-2):141-4. Epub 2005 Apr 19.

Laboratory of Pharmacology and Toxicology, Facultad de Farmacia, Universidad San Pablo CEU, Boadilla del Monte, Madrid, Spain.

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http://dx.doi.org/10.1016/j.neulet.2005.04.002DOI Listing
August 2005

Attenuating effects of heat shock against TGF-beta1-induced apoptosis in cultured rat hepatocytes.

Free Radic Biol Med 2002 Sep;33(6):835-46

Instituto de Bioqui;mica (Centro Mixto CSIC-UCM), Facultad de Farmacia, Madrid, Spain.

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http://dx.doi.org/10.1016/s0891-5849(02)00975-9DOI Listing
September 2002

Relationship between the activation of heat shock factor and the suppression of nuclear factor-kappaB activity in rat hepatocyte cultures treated with cyclosporine A.

Biochem Pharmacol 2002 Jul;64(2):247-56

Instituto de Bioquímica (CSIC-UCM), Facultad de Farmacia, Universidad Complutense, Plaza de Ramón y Cajal sn, 28040 Madrid, Spain.

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http://dx.doi.org/10.1016/s0006-2952(02)01115-2DOI Listing
July 2002

Hepatotoxicity and aging: endogenous antioxidant systems in hepatocytes from 2-, 6-, 12-, 18- and 30-month-old rats following a necrogenic dose of thioacetamide.

Biochim Biophys Acta 2002 May;1587(1):12-20

Instituto de Bioquímica (CSIC-UCM), Facultad de Farmacia, Universidad Complutense, Plaza Ramón y Cajal sn, 28040 Madrid, Spain.

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http://dx.doi.org/10.1016/s0925-4439(02)00048-0DOI Listing
May 2002