Antonella Spinazzola

Antonella Spinazzola

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Antonella Spinazzola

Antonella Spinazzola

Publications by authors named "Antonella Spinazzola"

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Beyond the unwinding: role of TOP1MT in mitochondrial translation.

Cell Cycle 2019 Oct 9;18(19):2377-2384. Epub 2019 Aug 9.

Laboratory of Molecular Pharmacology, Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, NIH , Bethesda , MD , USA.

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http://dx.doi.org/10.1080/15384101.2019.1646563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739053PMC
October 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

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

Brain 2017 11;140(11):e67

Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.

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http://dx.doi.org/10.1093/brain/awx240DOI Listing
November 2017

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 2017

Mitochondrial diseases: translation matters.

Mol Cell Neurosci 2013 Jul 7;55:1-12. Epub 2012 Sep 7.

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

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http://dx.doi.org/10.1016/j.mcn.2012.08.013DOI Listing
July 2013

Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes.

Adv Exp Med Biol 2009 ;652:69-84

Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.

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http://dx.doi.org/10.1007/978-90-481-2813-6_6DOI Listing
April 2010

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Hum Mol Genet 2009 Jan 24;18(1):12-26. Epub 2008 Sep 24.

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddn309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644642PMC
January 2009

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

J Hepatol 2009 Jan 31;50(1):215-21. Epub 2008 Oct 31.

Rare Metabolic Diseases Unit Fondazione Mariani, Pediatric Unit, San Gerardo Hospital, Via Pergolesi 33, 20052 Monza, Italy.

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http://dx.doi.org/10.1016/j.jhep.2008.08.019DOI Listing
January 2009

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

Arch Neurol 2008 Aug;65(8):1108-13

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center, Study of Children's Mitochondrial Disorders, C Besta Neurological Institute Foundation, Milano, Italy.

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http://dx.doi.org/10.1001/archneur.65.8.1108DOI Listing
August 2008

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.

Neuromuscul Disord 2008 Apr 7;18(4):315-8. Epub 2008 Feb 7.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation, via Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1016/j.nmd.2007.12.007DOI Listing
April 2008

Disorders of nuclear-mitochondrial intergenomic communication.

Biosci Rep 2007 Jun;27(1-3):39-51

Unit of Molecular Neurogenetics, C. Besta Neurological Institute-Foundation IRCCS, via Libero Temolo 4, Milano, 20126, Italy.

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http://dx.doi.org/10.1007/s10540-007-9036-1DOI Listing
June 2007

Systematic identification of human mitochondrial disease genes through integrative genomics.

Nat Genet 2006 May 2;38(5):576-82. Epub 2006 Apr 2.

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

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http://dx.doi.org/10.1038/ng1776DOI Listing
May 2006

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Nat Genet 2006 May 2;38(5):570-5. Epub 2006 Apr 2.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, Milan 20126, Italy.

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http://dx.doi.org/10.1038/ng1765DOI Listing
May 2006

Disorders of nuclear-mitochondrial intergenomic signaling.

Gene 2005 Jul;354:162-8

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.gene.2005.03.025DOI Listing
July 2005

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Neuromuscul Disord 2004 Dec;14(12):815-7

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, via Temolo 4, 21033 Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2004.09.002DOI Listing
December 2004

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.

Clin Chem 2004 Jan 18;50(1):120-4. Epub 2003 Nov 18.

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1373/clinchem.2003.026179DOI Listing
January 2004

Mitochondrial disorders.

Curr Neurol Neurosci Rep 2003 Sep;3(5):423-32

Divisione di Neurogenetica Molecolare, Istituto Nazionale Neurologico Carlo Besta, via Temolo 4, 20126 Milano, Italy.

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September 2003

Nuclear genes in mitochondrial disorders.

Curr Opin Genet Dev 2003 Jun;13(3):262-70

Division of Molecular Neurogenetics, National Neurological Institute 'Carlo Besta', via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/s0959-437x(03)00052-2DOI Listing
June 2003

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

Mitochondrion 2002 Nov;2(1-2):143-7

Department of Neurology, Columbia University College of Physicians & Surgeons, P&S 4-443, 630 West 168th Street, New York, NY 10032 , USA.

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November 2002

Altered thymidine metabolism due to defects of thymidine phosphorylase.

J Biol Chem 2002 Feb 3;277(6):4128-33. Epub 2001 Dec 3.

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://dx.doi.org/10.1074/jbc.M111028200DOI Listing
February 2002