Publications by authors named "Aurelio Reyes"

59Publications

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by mutations.

Neurol Genet 2020 Dec 7;6(6):e521. Epub 2020 Oct 7.

Medical Research Council-Mitochondrial Biology Unit (A.R., M.J., A.J.R., C.B., M.Z.), University of Cambridge, United Kingdom; Department of Genetics (V.Z., R.L.R.S., C.B.), Federal University of Paraná-UFPR; and Neuropediatric Division (V.M., M.L.S.F.S., D.V., B.A.T.), Hospital Pequeno Príncipe, Curitiba, Brazil.

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December 2020

RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases.

PLoS Genet 2020 07 31;16(7):e1008923. Epub 2020 Jul 31.

MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, United Kingdom.

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July 2020

Successful Surgical Management of Aortic Arch Thrombosis in the Neonate.

Ann Thorac Surg 2020 Jul 13. Epub 2020 Jul 13.

Division of Congenital Cardiac Surgery, AHMG; AdventHealth for Children.

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July 2020

RNase H1 Regulates Mitochondrial Transcription and Translation the Degradation of 7S RNA.

Front Genet 2019 31;10:1393. Epub 2020 Jan 31.

MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, United Kingdom.

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January 2020

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

Mol Genet Metab 2020 01 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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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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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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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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October 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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June 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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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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August 2017

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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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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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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June 2014

A cryptic targeting signal creates a mitochondrial FEN1 isoform with tailed R-Loop binding properties.

PLoS One 2013 13;8(5):e62340. Epub 2013 May 13.

MRC-Mitochondrial Biology Unit, Wellcome Trust-MRC Building, Cambridge, United Kingdom.

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December 2013

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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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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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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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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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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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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October 2009

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

Methods Mol Biol 2007 ;372:219-32

MRC Dunn Human Nutrition Unit, Wellcome Trust, Cambridge, United Kingdom.

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March 2008

The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA.

Nucleic Acids Res 2007 20;35(19):6458-74. Epub 2007 Sep 20.

Institute of Medical Technology and Tampere University Hospital, FI-33014, University of Tampere, Finland.

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December 2007

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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September 2007

Phylogenetic analyses of complete mitochondrial genome sequences suggest a basal divergence of the enigmatic rodent Anomalurus.

BMC Evol Biol 2007 Feb 8;7:16. Epub 2007 Feb 8.

Dipartimento di Scienze Biomolecolari e Biotecnologie, Università di Milano, Via Celoria 26, 20133 Milano, Italy.

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February 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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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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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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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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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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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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April 2003

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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May 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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March 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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March 2002