Juan Pie

Juan Pie

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Juan Pie

Juan Pie

Publications by authors named "Juan Pie"

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Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Int J Mol Sci 2018 Mar 28;19(4). Epub 2018 Mar 28.

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/ijms19041010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369PMC
March 2018

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

J Allergy Clin Immunol 2018 01 5;141(1):408-411.e8. Epub 2017 Aug 5.

Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.06.043DOI Listing
January 2018

Clinical utility gene card for: Cornelia de Lange syndrome.

Eur J Hum Genet 2015 Oct 24;23(10). Epub 2014 Dec 24.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592075PMC
October 2015

Effects of detyrosinated tubulin on Na+,K+-ATPase activity and erythrocyte function in hypertensive subjects.

FEBS Lett 2015 Jan 23;589(3):364-73. Epub 2014 Dec 23.

Departamento de Biología Molecular, Facultad de Ciencias Exactas, Físico-Químicas y Naturales, Universidad Nacional de Río Cuarto, Río Cuarto, 5800 Córdoba, Argentina.

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http://dx.doi.org/10.1016/j.febslet.2014.12.022DOI Listing
January 2015

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

J Clin Pathol 2014 Dec 30;67(12):1099-103. Epub 2014 Sep 30.

Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1136/jclinpath-2014-202537DOI Listing
December 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity.

Behav Brain Res 2013 Nov 21;256:291-7. Epub 2013 Aug 21.

Department of Basic Sciences, Facultat de Medicina i Ciències de la Salut, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallés, Spain; Centro de Investigación Biomédica en Red (CIBER)-Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, 28029 Madrid, Spain.

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http://dx.doi.org/10.1016/j.bbr.2013.08.004DOI Listing
November 2013

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

Involvement of membrane tubulin in erythrocyte deformability and blood pressure.

J Hypertens 2012 Jul;30(7):1414-22

Departamento de Biología Molecular, Facultad de Ciencias Exactas, Físico-Químicas y Naturales, Universidad Nacional de Río Cuarto, Río Cuarto, Argentina.

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http://dx.doi.org/10.1097/HJH.0b013e328353b19aDOI Listing
July 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

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Am J Med Genet A 2010 Jul;152A(7):1641-53

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.33441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133091PMC
July 2010

Molecular genetics of HMG-CoA lyase deficiency.

Mol Genet Metab 2007 Nov 9;92(3):198-209. Epub 2007 Aug 9.

Laboratory of Clinical Genetics and Functional Genomics, University of Zaragoza Medical School, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2007.06.020DOI Listing
November 2007

C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.

Mol Genet Metab 2007 Jun 24;91(2):120-7. Epub 2007 Apr 24.

Department of Biochemistry and Molecular Biology, School of Health Sciences, Universitat Internacional de Catalunya, E-08195 Sant Cugat, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2007.03.007DOI Listing
June 2007

The diagnosis of mitochondrial HMG-CoA synthase deficiency.

J Pediatr 2002 Jun;140(6):778-80

Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1067/mpd.2002.123854DOI Listing
June 2002