Publications by authors named "Eduardo Ruiz-Pesini"

100Publications

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA.

Genes (Basel) 2020 Aug 27;11(9). Epub 2020 Aug 27.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.3390/genes11091007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565518PMC
August 2020

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.

Int J Mol Sci 2020 May 10;21(9). Epub 2020 May 10.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms21093374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246988PMC
May 2020

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

Clin Genet 2020 05 9;97(5):731-735. Epub 2020 Jan 9.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.1111/cge.13701DOI Listing
May 2020

Uridine Prevents Negative Effects of OXPHOS Xenobiotics on Dopaminergic Neuronal Differentiation.

Cells 2019 11 8;8(11). Epub 2019 Nov 8.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/Miguel Servet 177, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.3390/cells8111407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912777PMC
November 2019

Infectious stress triggers a POLG-related mitochondrial disease.

Neurogenetics 2020 01 26;21(1):19-27. Epub 2019 Oct 26.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza-Instituto de Investigación Sanitaria de Aragón (IIS-Aragón), C/Pedro Cerbuna, 12, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s10048-019-00593-2DOI Listing
January 2020

A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.

Mitochondrion 2020 01 19;50:14-18. Epub 2019 Oct 19.

Department of Neurology, Hospital Universitario, 12 de Octubre, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Department of Neurology, Neuromuscular Disorders Unit, Hospital Universitario, 12 de Octubre, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.10.001DOI Listing
January 2020

Brain pyrimidine nucleotide synthesis and Alzheimer disease.

Aging (Albany NY) 2019 09 27;11(19):8433-8462. Epub 2019 Sep 27.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.18632/aging.102328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814620PMC
September 2019

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.

Orphanet J Rare Dis 2019 06 21;14(1):150. Epub 2019 Jun 21.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain.

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http://dx.doi.org/10.1186/s13023-019-1128-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588889PMC
June 2019

Oxidative phosphorylation inducers fight pathological angiogenesis.

Drug Discov Today 2019 09 14;24(9):1731-1734. Epub 2019 Mar 14.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain; Aragón Health Research Institute (IIS Aragón), Zaragoza, Spain; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Spain; Fundación ARAID, Zaragoza, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2019.03.014DOI Listing
September 2019

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Mol Genet Metab 2019 03 5;126(3):250-258. Epub 2019 Jan 5.

Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain; Faculty of Medicine, Universitat Autónoma de Barcelona, Unitat Docent Vall d'Hebrón, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183069
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http://dx.doi.org/10.1016/j.ymgme.2019.01.001DOI Listing
March 2019

Effect of mitochondrial haplogroups on ranibizumab response in neovascular age-related macular degeneration patients: a pilot study.

Acta Ophthalmol 2019 Feb 10;97(1):e133-e134. Epub 2018 Sep 10.

Aragón Health Research Institute (IIS Aragón), Zaragoza, Spain.

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http://dx.doi.org/10.1111/aos.13865DOI Listing
February 2019

Mitochondrial DNA Haplogroup JT is Related to Impaired Glycaemic Control and Renal Function in Type 2 Diabetic Patients.

J Clin Med 2018 Aug 16;7(8). Epub 2018 Aug 16.

Service of Endocrinology, University Hospital Doctor Peset, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region (FISABIO), 46017 Valencia, Spain.

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http://dx.doi.org/10.3390/jcm7080220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6111716PMC
August 2018

Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations.

Food Chem Toxicol 2018 Oct 6;120:89-97. Epub 2018 Jul 6.

Departamento de Bioquímica, Biología Molecular y Celular. Universidad de Zaragoza, Zaragoza, Spain; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Zaragoza, Spain; Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER), Zaragoza, Spain; Fundación ARAID, Zaragoza, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.fct.2018.07.014DOI Listing
October 2018

Prenatal exposure to oxidative phosphorylation xenobiotics and late-onset Parkinson disease.

Ageing Res Rev 2018 Aug 22;45:24-32. Epub 2018 Apr 22.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain; Fundación ARAID, Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.arr.2018.04.006DOI Listing
August 2018

Increasing mtDNA levels as therapy for mitochondrial optic neuropathies.

Drug Discov Today 2018 03 11;23(3):493-498. Epub 2018 Jan 11.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain; Instituto de Investigación Sanitaria de Aragón (IISA), Universidad de Zaragoza, 50013 Zaragoza, Spain; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, 50013 Zaragoza, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2018.01.031DOI Listing
March 2018

Lower mitochondrial dysfunction in survivor septic patients with mitochondrial DNA haplogroup JT.

Enferm Infecc Microbiol Clin 2018 11 18;36(9):539-543. Epub 2017 Oct 18.

Departamento de Bioquímica y Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER), Instituto de Investitación Sanitaria de Aragón y Fundación ARAID, Universidad de Zaragoza, Zaragoza, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S0213005X173023
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http://dx.doi.org/10.1016/j.eimc.2017.08.011DOI Listing
November 2018

Pharmacologic concentrations of linezolid modify oxidative phosphorylation function and adipocyte secretome.

Redox Biol 2017 10 31;13:244-254. Epub 2017 May 31.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet 177, 50013 Zaragoza, Spain; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Universidad de Zaragoza, C/ Miguel Servet 177, 50013 Zaragoza, Spain; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, C/ Miguel Servet 177, 50013 Zaragoza, Spain; Fundación ARAID, Universidad de Zaragoza, C/ Miguel Servet 177, 50013 Zaragoza, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.redox.2017.05.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466587PMC
October 2017

Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides.

BMC Bioinformatics 2017 Mar 7;18(1):158. Epub 2017 Mar 7.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet 177, Zaragoza, 50013, Spain.

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http://dx.doi.org/10.1186/s12859-017-1562-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341421PMC
March 2017

MEvoLib v1.0: the first molecular evolution library for Python.

BMC Bioinformatics 2016 Oct 28;17(1):436. Epub 2016 Oct 28.

Depto. de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Miguel Server 177, Zaragoza, 50013, Spain.

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http://dx.doi.org/10.1186/s12859-016-1303-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5084326PMC
October 2016

Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation.

Environ Health Perspect 2016 09 29;124(9):1399-405. Epub 2016 Apr 29.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.1289/EHP182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010394PMC
September 2016

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Mitochondrion 2016 May 11;28:73-8. Epub 2016 Apr 11.

Division of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.04.001DOI Listing
May 2016

Septic patients with mitochondrial DNA haplogroup JT have higher respiratory complex IV activity and survival rate.

J Crit Care 2016 06 13;33:95-9. Epub 2016 Feb 13.

Departamento de Bioquímica y Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER), Instituto de Investitación Sanitaria de Aragón and Fundación ARAID, Universidad de Zaragoza, Zaragoza-50013, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jcrc.2016.02.003DOI Listing
June 2016

Xenobiotics that affect oxidative phosphorylation alter differentiation of human adipose-derived stem cells at concentrations that are found in human blood.

Dis Model Mech 2015 Nov 17;8(11):1441-55. Epub 2015 Sep 17.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza, Spain Instituto de Investigación Sanitaria de Aragón, Universidad de Zaragoza, 50013-Zaragoza, Spain CIBER de Enfermedades Raras (CIBERER), Universidad de Zaragoza, 50013-Zaragoza, Spain

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http://dx.doi.org/10.1242/dmm.021774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631789PMC
November 2015

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Brain 2016 Jan 23;139(Pt 1):e1. Epub 2015 Jul 23.

1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy

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http://dx.doi.org/10.1093/brain/awv216DOI Listing
January 2016

Decrease of oxidative phosphorylation system function in severe septic patients.

J Crit Care 2015 Oct 10;30(5):935-9. Epub 2015 Jun 10.

Departamento de Bioquímica y Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras e Instituto de Investigación Sanitaria de Aragón, Universidad de Zaragoza, Zaragoza, 50013, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08839441150034
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http://dx.doi.org/10.1016/j.jcrc.2015.05.031DOI Listing
October 2015

Side Effects of Culture Media Antibiotics on Cell Differentiation.

Tissue Eng Part C Methods 2015 Nov 8;21(11):1143-7. Epub 2015 Jul 8.

1 Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza , Zaragoza, Spain .

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http://dx.doi.org/10.1089/ten.TEC.2015.0062DOI Listing
November 2015

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

Mitochondrion 2015 May 10;22:17-22. Epub 2015 Mar 10.

Departamentos de Neurología, Bioquímica Clínica y de Patología, Hospital Sant Joan de Déu, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.03.001DOI Listing
May 2015

An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.

Front Genet 2014 14;5:469. Epub 2015 Jan 14.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza Zaragoza, Spain ; Instituto de Investigación Sanitaria de Aragón, Universidad de Zaragoza Zaragoza, Spain ; Centros de Investigación Biomédica en Red de Enfermedades Raras, Universidad de Zaragoza Zaragoza, Spain ; Fundación ARAID, Universidad de Zaragoza Zaragoza, Spain.

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http://dx.doi.org/10.3389/fgene.2014.00469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294204PMC
February 2015

OXPHOS, pyrimidine nucleotides, and Alzheimer's disease: a pharmacogenomics approach.

J Alzheimers Dis 2014 ;42(1):87-96

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, Zaragoza, Spain Fundación ARAID, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.3233/JAD-140384DOI Listing
May 2015

Expanding the clinical phenotypes of MT-ATP6 mutations.

Hum Mol Genet 2014 Dec 30;23(23):6191-200. Epub 2014 Jun 30.

Departamento de Bioquímica, Biología Molecular y Celular, Instituto de Investigación Sanitaria de Aragón, Zaragoza, Spain, Centro de Investigaciones Biomédicas en red de Enfermedades Raras (CIBERER), Spain,

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http://dx.doi.org/10.1093/hmg/ddu339DOI Listing
December 2014

New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.

Clin Exp Ophthalmol 2014 Dec 30;42(9):856-64. Epub 2014 May 30.

Departamento de Bioquímica, Biología Molecular y Celular and Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Zaragoza, Spain.

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http://dx.doi.org/10.1111/ceo.12355DOI Listing
December 2014

Mitochondrial DNA haplogroups and risk of new-onset diabetes among tacrolimus-treated renal transplanted patients.

Gene 2014 Mar 18;538(1):195-8. Epub 2014 Jan 18.

Genética Molecular, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain; Fundación Renal I. Alvarez de Toledo, Madrid, Spain; Universidad de Oviedo, Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.036DOI Listing
March 2014

Stressed cybrids model demyelinated axons in multiple sclerosis.

Metab Brain Dis 2013 Dec 24;28(4):639-45. Epub 2013 Apr 24.

Departamento de Bioquímica, Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER) Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s11011-013-9410-6DOI Listing
December 2013

Phylogenetic analysis of mitochondrial DNA in a patient with Kearns-Sayre syndrome containing a novel 7629-bp deletion.

Mitochondrial DNA 2013 Aug 8;24(4):420-31. Epub 2013 Feb 8.

Department of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras, Zaragoza, Spain.

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http://dx.doi.org/10.3109/19401736.2012.760550DOI Listing
August 2013

Mitochondrial antibiograms in personalized medicine.

Hum Mol Genet 2013 Mar 7;22(6):1132-9. Epub 2012 Dec 7.

Departamento de Bioquímica, Biologa Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.1093/hmg/dds517DOI Listing
March 2013

Mitochondrial ribosome and Ménière's disease: a pilot study.

Eur Arch Otorhinolaryngol 2012 Aug 13;269(8):2003-8. Epub 2012 Jun 13.

Departamento de Bioquímica, Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.1007/s00405-012-2066-8DOI Listing
August 2012

Read-through therapy for mitochondrial DNA nonsense mutations.

Drug Discov Today 2012 Oct 5;17(19-20):1063-7. Epub 2012 May 5.

Departamento de Bioquímica, Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.drudis.2012.04.012DOI Listing
October 2012

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy.

Biochim Biophys Acta 2012 Aug 26;1822(8):1216-22. Epub 2012 Apr 26.

Departamento de Bioquímica, Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras, Universidad de Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.bbadis.2012.04.014DOI Listing
August 2012

[Pearson syndrome. Case report].

Invest Clin 2011 Sep;52(3):261-7

Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.

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September 2011

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort.

Mitochondrion 2011 Nov 11;11(6):905-8. Epub 2011 Aug 11.

Departament de Patología Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2011.08.002DOI Listing
November 2011

'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.

Hum Mol Genet 2011 Nov 9;20(21):4224-31. Epub 2011 Aug 9.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.1093/hmg/ddr350DOI Listing
November 2011

OXPHOS toxicogenomics and Parkinson's disease.

Mutat Res 2011 Nov-Dec;728(3):98-106. Epub 2011 Jul 8.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.mrrev.2011.06.004DOI Listing
January 2012

Rebooting the human mitochondrial phylogeny: an automated and scalable methodology with expert knowledge.

BMC Bioinformatics 2011 May 19;12:174. Epub 2011 May 19.

Departamento de Informática e Ingeniería de Sistemas, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.1186/1471-2105-12-174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123235PMC
May 2011

Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.

Invest Clin 2010 Sep;51(3):423-31

Felipe Guevara Rojas Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui, Venezuela.

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September 2010

Mitochondrial pharma-Q-genomics: targeting the OXPHOS cytochrome b.

Drug Discov Today 2011 Mar 26;16(5-6):176-80. Epub 2010 Nov 26.

Departamento de Bioquímica, Biología Molecular y Celular, Centro de Investigaciones, Biomédicas En Red de Enfermedades Raras (CIBERER), Instituto Aragonés de Ciencias de la Salud (I+CS), Spain.

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http://dx.doi.org/10.1016/j.drudis.2010.11.010DOI Listing
March 2011

Maternally inherited susceptibility to cancer.

Biochim Biophys Acta 2011 Jun 21;1807(6):643-9. Epub 2010 Aug 21.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.bbabio.2010.08.004DOI Listing
June 2011

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.

Hum Mol Genet 2010 Sep 21;19(17):3343-53. Epub 2010 Jun 21.

Departamento de Bioquímica, Biología Molecular y Celular, Centro de INvestigaciones Biomédicas en Red de Enfermedades Raras, Instituto Aragonés de Ciencias de la Salud, Universidad de Zaragoza, Zaragoza, Spain.

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http://dx.doi.org/10.1093/hmg/ddq246DOI Listing
September 2010

Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions.

Clin Exp Ophthalmol 2010 Nov;38(8):812-6

Department of Ophthalmology, 'Lozano Blesa' University Clinic Hospital, Zaragoza, Spain.

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http://dx.doi.org/10.1111/j.1442-9071.2010.02335.xDOI Listing
November 2010

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

Pediatr Res 2010 Aug;68(2):151-4

Laboratory of Mitochondrial Disorders, Institut de Recerca Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1203/PDR.0b013e3181e33bbeDOI Listing
August 2010

Human mitochondrial haplogroup H: the highest VO2max consumer--is it a paradox?

Mitochondrion 2010 Mar 10;10(2):102-7. Epub 2009 Nov 10.

Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza y CIBER de Enfermedades Raras (CIBERER), Universidad de Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.mito.2009.11.005DOI Listing
March 2010

Mitochondrial pharmacogenomics: barcode for antibiotic therapy.

Drug Discov Today 2010 Jan 31;15(1-2):33-9. Epub 2009 Oct 31.

Departamento de Bioquímica, Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras, Instituto Aragonés de Ciencias de Salud, Universidad de Zaragoza, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.drudis.2009.10.008DOI Listing
January 2010

Moroccan mitochondrial genetic background suggests prehistoric human migrations across the Gibraltar Strait.

Mitochondrion 2009 Nov 23;9(6):402-7. Epub 2009 Jul 23.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.mito.2009.07.003DOI Listing
November 2009

CPEO and KSS differ in the percentage and location of the mtDNA deletion.

Mitochondrion 2009 Sep 4;9(5):314-7. Epub 2009 May 4.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet 177, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.mito.2009.04.005DOI Listing
September 2009

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.

Mol Genet Metab 2009 Apr 29;96(4):189-95. Epub 2009 Jan 29.

Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California, 2034 Hewitt Hall, Irvine, CA 92697-3940, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693342PMC
April 2009

Diseases of the human mitochondrial oxidative phosphorylation system.

Adv Exp Med Biol 2009 ;652:47-67

Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet, 177, 50013, Zaragoza, Spain.

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http://dx.doi.org/10.1007/978-90-481-2813-6_5DOI Listing
April 2010

A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease.

Ann N Y Acad Sci 2008 Dec;1147:1-20

Institute of Biochemistry and Genetics, Ufa Science Center, Russian Academy of Sciences, Ufa, Bashkortostan, Russia.

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http://dx.doi.org/10.1196/annals.1427.001DOI Listing
December 2008

Human mitochondrial variants influence on oxygen consumption.

Mitochondrion 2009 Feb 15;9(1):27-30. Epub 2008 Oct 15.

Departmento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet 177, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.mito.2008.10.002DOI Listing
February 2009

20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria.

Biochim Biophys Acta 2009 May 18;1787(5):476-83. Epub 2008 Sep 18.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.bbabio.2008.09.003DOI Listing
May 2009

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.

Hum Mutat 2009 Jan;30(1):1-6

Department of Information and Computer Science, University of California, Irvine, Irvine, California 92697-3940, USA.

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http://dx.doi.org/10.1002/humu.20801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292933PMC
January 2009

Association of human mitochondrial DNA variants with plasma LDL levels.

Mitochondrion 2008 Jun 22;8(3):247-53. Epub 2008 Apr 22.

Departamento de Bioquímica, Biología Molecular y Celular, Miguel Servet 177, Universidad de Zaragoza, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.mito.2008.04.002DOI Listing
June 2008

An enhanced MITOMAP with a global mtDNA mutational phylogeny.

Nucleic Acids Res 2007 Jan 18;35(Database issue):D823-8. Epub 2006 Dec 18.

Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG) and Departments of Biological Chemistry, Ecology and Evolutionary Biology, and Pediatrics, University of California, Irvine, CA 92697-3900, USA.

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http://dx.doi.org/10.1093/nar/gkl927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1781213PMC
January 2007

Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.

Hum Mutat 2006 Nov;27(11):1072-81

Center for Molecular and Mitochondrial Medicine and Genetics, Department of Ecology and Evolutionary Biology, University of California, Irvine, Irvine, California 92697-3940, USA.

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http://dx.doi.org/10.1002/humu.20378DOI Listing
November 2006

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Pediatr Res 2006 Oct 28;60(4):423-9. Epub 2006 Aug 28.

Department of Pediatrics, Division of Human Genetics, University of California, Irvine, CA 92697-3940, USA.

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http://dx.doi.org/10.1203/01.pdr.0000238301.25938.f5DOI Listing
October 2006

Adaptive selection of mitochondrial complex I subunits during primate radiation.

Gene 2006 Aug 7;378:11-8. Epub 2006 Jul 7.

The Center for Molecular and Mitochondrial Medicine and Genetics, Hewitt Hall, room 2014, University of California, Irvine, Irvine, CA 92697-3940, USA.

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https://webfiles.uci.edu/jmswanso/GEHDHD%20Irvine%20Meeting/
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http://dx.doi.org/10.1016/j.gene.2006.03.015DOI Listing
August 2006

Mitochondrial DNA transcription and diseases: past, present and future.

Biochim Biophys Acta 2006 Sep-Oct;1757(9-10):1179-89. Epub 2006 Apr 7.

Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza-Instituto Aragonés de Ciencias de la Salud, Miguel Servet 177, 50013-Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.bbabio.2006.03.023DOI Listing
December 2006

Differences of sperm motility in mitochondrial DNA haplogroup U sublineages.

Gene 2006 Mar 1;368:21-7. Epub 2005 Dec 1.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet 177, 50013 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.gene.2005.09.015DOI Listing
March 2006