Publications by authors named "Sebastian Menao"

14Publications

Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.

Int J Cardiol 2020 02 19;301:220-225. Epub 2019 Oct 19.

Internal Medicine Department, Hospital Clínico Universitario de Zaragoza (HCUZ)-IIS, Aragón, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2019.10.028DOI Listing
February 2020

Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease.

Mult Scler Relat Disord 2020 Feb 23;38:101466. Epub 2019 Oct 23.

Unit of Rare Disorders, Department of Internal Medicine, Lozano Blesa; University Hospital. Zaragoza. Spain; IISAragon, Hospital, Universitario Lozano Blesa, Zaragoza, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.msard.2019.101466DOI Listing
February 2020

in Spanish Patients With Heart Failure.

Front Public Health 2019 9;7:289. Epub 2019 Oct 9.

Department of Internal Medicine, "Lozano Blesa" University Hospital, Zaragoza, Spain.

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http://dx.doi.org/10.3389/fpubh.2019.00289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794361PMC
October 2019

Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report.

Breast Cancer Res Treat 2019 Oct 10;177(3):767-770. Epub 2019 Jul 10.

Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s10549-019-05343-4DOI Listing
October 2019

Elucidating sources and roles of granzymes A and B during bacterial infection and sepsis.

Cell Rep 2014 Jul 10;8(2):420-9. Epub 2014 Jul 10.

Cell Immunity in Cancer, Inflammation and Infection Group, Department of Biochemistry and Molecular and Cell Biology, Biomedical Research Centre of Aragon (CIBA), IIS Aragon/University of Zaragoza, Zaragoza 50009, Spain; Nanoscience Institute of Aragon (INA), University of Zaragoza, Zaragoza 50018, Spain; Aragon I+D Foundation, Zaragoza 20018, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.06.012DOI Listing
July 2014

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

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