Publications by authors named "Maria Arnedo"

12Publications

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Int J Mol Sci 2020 Feb 4;21(3). Epub 2020 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms21031042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038094PMC
February 2020

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.

Int J Mol Sci 2019 Dec 4;20(24). Epub 2019 Dec 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms20246124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941031PMC
December 2019

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

Mol Genet Metab 2013 Apr 4;108(4):232-40. Epub 2013 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.019DOI Listing
April 2013

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.

J Lipid Res 2012 Oct 30;53(10):2046-56. Epub 2012 Jul 30.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, Spain.

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http://dx.doi.org/10.1194/jlr.M025700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3435538PMC
October 2012

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

Mol Biol Rep 2012 Apr 28;39(4):4777-85. Epub 2011 Sep 28.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s11033-011-1270-8DOI Listing
April 2012

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

J Inherit Metab Dis 2010 Aug 8;33(4):405-10. Epub 2010 Jun 8.

Laboratory of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/ Domingo Miral s/n, 50009, Zaragoza, Spain.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9097
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http://link.springer.com/10.1007/s10545-010-9097-3
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http://dx.doi.org/10.1007/s10545-010-9097-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903694PMC
August 2010