Aurelio Reyes

Aurelio Reyes

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Aurelio Reyes

Aurelio Reyes

Publications by authors named "Aurelio Reyes"

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Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

Mol Genet Metab 2020 Jan 21;129(1):26-34. Epub 2019 Nov 21.

Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Hills Road, CB20XY Cambridge, UK; Dipartimento di Scienze Mediche e Chirurgiche, Centro di Ricerca Biomedica Applicata, Università di Bologna, via Massarenti, 11, 40100 Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.11.003DOI Listing
January 2020

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.

PLoS Genet 2019 01 3;15(1):e1007781. Epub 2019 Jan 3.

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.

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http://dx.plos.org/10.1371/journal.pgen.1007781
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http://dx.doi.org/10.1371/journal.pgen.1007781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317783PMC
January 2019

Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication.

Nucleic Acids Res 2018 11;46(20):10771-10781

Department of Clinical Movement Neurosciences, Institute of Neurology, Royal Free Campus, University College London, London NW3 2PF, UK.

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http://dx.doi.org/10.1093/nar/gky852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237803PMC
November 2018

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Nucleic Acids Res 2018 10;46(18):9471-9483

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, Sweden.

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http://dx.doi.org/10.1093/nar/gky708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182146PMC
October 2018

The Role of DNA Repair in Maintaining Mitochondrial DNA Stability.

Adv Exp Med Biol 2017 ;1038:85-105

Zhongshan Hospital Institute of Clinical Science, Fudan University, Shanghai Medical College, Shanghai, China.

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http://dx.doi.org/10.1007/978-981-10-6674-0_7DOI Listing
June 2018

Mitochondrial maintenance under oxidative stress depends on mitochondrially localised α-OGG1.

J Cell Sci 2018 06 25;131(12). Epub 2018 Jun 25.

Institut de Biologie François Jacob (IBFJ), Institute of Cellular and Molecular Radiobiology, CEA, UMR967 INSERM, 96265 Fontenay aux Roses, France

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http://dx.doi.org/10.1242/jcs.213538DOI Listing
June 2018

Functionally pathogenic variants in vitro may not manifest a phenotype in vivo.

Neurol Genet 2017 Aug 14;3(4):e162. Epub 2017 Jul 14.

Baylor Research Institute (N.M., B.L., R.S.), Baylor Scott and White Health, Dallas, TX; Unit of Molecular Neurogenetics (A.N., D.G.), Foundation IRCCS Institute of Neurology "Besta," Milan, Italy; Mitochondrial Biology Unit (A.R.), Medical Research Council, Cambridge, United Kingdom; Department of Bioinformatics (B.C.), University of Texas Southwestern Medical Center, Dallas; and Department of Neurology (A.V.), George Washington University School of Medicine, Children's National Health, DC.

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http://dx.doi.org/10.1212/NXG.0000000000000162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511247PMC
August 2017

Analysis of Replicating Mitochondrial DNA by In Organello Labeling and Two-Dimensional Agarose Gel Electrophoresis.

Methods Mol Biol 2016 ;1351:95-113

MRC-Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY, UK.

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http://dx.doi.org/10.1007/978-1-4939-3040-1_8DOI Listing
September 2016

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Biochim Biophys Acta 2016 Aug 8;1857(8):1326-1335. Epub 2016 Mar 8.

Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.02.022DOI Listing
August 2016

Foxg1 localizes to mitochondria and coordinates cell differentiation and bioenergetics.

Proc Natl Acad Sci U S A 2015 Nov 27;112(45):13910-5. Epub 2015 Oct 27.

Scuola Normale Superiore, 56126 Pisa, Italy; Institute of Neuroscience, Italian National Research Council, 56124 Pisa, Italy;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1515190112
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http://dx.doi.org/10.1073/pnas.1515190112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653140PMC
November 2015

Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity.

Mitochondrion 2015 Jan 1;20:13-21. Epub 2014 Nov 1.

Dipartimento di Bioscienze, Biotecnologie e Biofarmaceutica, Università degli Studi di Bari Aldo Moro, Via Orabona 4, Bari 70126, Italy; Istituto di Biomembrane e Bioenergetica, CNR, via Amendola 165/A, Bari 70126, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2014.10.005DOI Listing
January 2015

Stabilizing control for a pulsatile cardiovascular mathematical model.

Bull Math Biol 2014 Jun 1;76(6):1306-32. Epub 2014 May 1.

Department of Mathematics, Konkuk University, 1 Hwayang-dong, Gwangjin-gu, Seoul, 143-701, Republic of Korea,

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http://dx.doi.org/10.1007/s11538-014-9958-2DOI Listing
June 2014

Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts.

Nucleic Acids Res 2013 Jun 16;41(11):5837-50. Epub 2013 Apr 16.

MRC-Mitochondrial Biology Unit, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK.

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http://dx.doi.org/10.1093/nar/gkt196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675460PMC
June 2013

Alternative translation initiation augments the human mitochondrial proteome.

Nucleic Acids Res 2013 Feb 28;41(4):2354-69. Epub 2012 Dec 28.

MRC-Mitochondrial Biology Unit, Wellcome Trust-MRC Building, Cambridge CB2 0XY, UK.

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http://dx.doi.org/10.1093/nar/gks1347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575844PMC
February 2013

Human mitochondrial DNA replication.

Cold Spring Harb Perspect Biol 2012 Dec 1;4(12). Epub 2012 Dec 1.

MRC Mitochondrial Biology Unit, Cambridge, United Kingdom.

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http://dx.doi.org/10.1101/cshperspect.a012971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504440PMC
December 2012

Minimizing the damage: repair pathways keep mitochondrial DNA intact.

Nat Rev Mol Cell Biol 2012 Oct 20;13(10):659-71. Epub 2012 Sep 20.

MRC-Mitochondrial Biology Unit, Wellcome Trust/MRC Building, Cambridge, UK.

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http://dx.doi.org/10.1038/nrm3439DOI Listing
October 2012

Human telomerase acts as a hTR-independent reverse transcriptase in mitochondria.

Nucleic Acids Res 2012 Jan 21;40(2):712-25. Epub 2011 Sep 21.

Department of Pharmacology and Physiology, New Jersey Medical School of UMDNJ, 185 South Orange Avenue, Medical Sciences Building, Newark, NJ 07103, USA.

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http://dx.doi.org/10.1093/nar/gkr758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3258147PMC
January 2012

Analysis of mitochondrial DNA by two-dimensional agarose gel electrophoresis.

Methods Mol Biol 2009 ;554:15-35

MRC Mitochondrial Biology Unit, Wellcome Trust/MRC Building, Cambridge, UK.

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http://dx.doi.org/10.1007/978-1-59745-521-3_2DOI Listing
October 2009

Mammalian mitochondrial nucleoids: organizing an independently minded genome.

Mitochondrion 2007 Sep 4;7(5):311-21. Epub 2007 Jul 4.

MRC-Dunn Human Nutrition Unit, Wellcome Trust-MRC Building, Hills Road, Cambridge CB2 OXY, UK.

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http://dx.doi.org/10.1016/j.mito.2007.06.004DOI Listing
September 2007

Prenatal sonographic diagnosis of fetal right ventricular diverticulum.

J Ultrasound Med 2007 Feb;26(2):267-70

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA.

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http://dx.doi.org/10.7863/jum.2007.26.2.267DOI Listing
February 2007

A novel lipoxygenase in pea roots. Its function in wounding and biotic stress.

Plant Physiol 2006 Jul 5;141(3):1045-55. Epub 2006 May 5.

Institute of Plant Protection, Bari Section, Consiglio Nazionale delle Ricerche, 70126 Bari, Italy.

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http://dx.doi.org/10.1104/pp.106.081679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1489892PMC
July 2006

Bidirectional replication initiates at sites throughout the mitochondrial genome of birds.

J Biol Chem 2005 Feb 20;280(5):3242-50. Epub 2004 Nov 20.

Medical Research Council Dunn Human Nutrition Unit, Wellcome Trust/MRC Building, Hills Road Cambridge, CB2 2XY, United Kingdom.

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http://dx.doi.org/10.1074/jbc.M411916200DOI Listing
February 2005

Congruent mammalian trees from mitochondrial and nuclear genes using Bayesian methods.

Mol Biol Evol 2004 Feb 5;21(2):397-403. Epub 2003 Dec 5.

Sezione di Bioinformatica e Genomica, Istituto Tecnologie Biomediche CNR Bari, Italy.

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http://dx.doi.org/10.1093/molbev/msh033DOI Listing
February 2004

Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone.

J Biol Chem 2003 Dec 23;278(51):50961-9. Epub 2003 Sep 23.

Dunn Human Nutrition Unit, Wellcome Trust-Medical Research Council Building, Hills Road, Cambridge CB2 2XY, United Kingdom.

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http://dx.doi.org/10.1074/jbc.M308028200DOI Listing
December 2003

DNA sequence variation in the mitochondrial control region of subterranean mole rats, Spalax ehrenbergi superspecies, in Israel.

Mol Biol Evol 2003 Apr 2;20(4):622-32. Epub 2003 Apr 2.

Istituto di Tecnologie Biomediche, Sezione di Bioinformatica e Genomica Comparata, Consiglio Nazionale delle Ricerche, Bari, Italy.

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http://dx.doi.org/10.1093/molbev/msg061DOI Listing
April 2003

Characterization of the (GAAA) microsatellite region in the plant parasitic nematode Meloidogyne artiellia.

Gene 2002 Jun;293(1-2):191-8

Istituto di Nematologia Agraria, CNR, Trav. 174 di via Amendola 168/5, 70125 Bari, Italy.

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http://dx.doi.org/10.1016/s0378-1119(02)00756-4DOI Listing
June 2002

Human mitochondrial transcription factor A (mtTFA): gene structure and characterization of related pseudogenes.

Gene 2002 May;291(1-2):223-32

Centro di Studio sui Mitocondri e Metabolismo Energetico, CNR, via Amendola 165/A, 70126 Bari, Italy.

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http://dx.doi.org/10.1016/s0378-1119(02)00600-5DOI Listing
May 2002

Mitochondrial DNA in metazoa: degree of freedom in a frozen event.

Gene 2002 Mar;286(1):3-12

Centro di Studio sui Mitocondri e Metabolismo Energetico, CNR, via Amendola 165/A, 70126 Bari, Italy.

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http://dx.doi.org/10.1016/s0378-1119(01)00807-1DOI Listing
March 2002

Characterization of the mtTFA gene and identification of a processed pseudogene in rat.

Gene 2002 Mar;286(1):105-12

Dipartimento di Biochimica e Biologia Molecolare, Università di Bari, Via Orabona 4, 70125 Bari, Italy.

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http://dx.doi.org/10.1016/s0378-1119(01)00811-3DOI Listing
March 2002

Lineage specificity of the evolutionary dynamics of the mtDNA D-loop region in rodents.

J Mol Evol 2002 Feb;54(2):145-55

Dipartimento di Biochimica e Biologia Molecolare, Bari, Italy.

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http://dx.doi.org/10.1007/s00239-001-0063-4DOI Listing
February 2002