Authors: Tuppen, HA, Hogan, VE, He, L, Blakely, EL, Worgan, L, Al-Dosary, M, Saretzki, G, Alston, CL, Morris, AA, Clarke, M, Jones, S, Devlin, AM, Mansour, S, Chrzanowska-Lightowlers, ZM, Thorburn, DR, McFarland, R, Taylor, RW

Source: Brain

Subject Terms: Original Articles, mitochondrial disease, Leigh syndrome, complex I deficiency, NDUFS2, recurrent mutation, Clinical Neurology, Mitochondrial disease, medicine.disease, medicine, Leigh disease, Single-nucleotide polymorphism, Splice site mutation, Compound heterozygosity, Mutation, medicine.disease_cause, NDUFS8, Haplotype, Genetics, Biology, congenital, hereditary, and neonatal diseases and abnormalities

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Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2878ddb905b4f2f73aa78b3cebfbee
http://europepmc.org/articles/PMC2947428

Authors: Bruni F; The Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, UK.; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, Italy., Proctor-Kent Y; The Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, UK., Lightowlers RN; The Wellcome Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, Newcastle University, UK., Chrzanowska-Lightowlers ZM; The Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, UK.

Source: The FEBS journal [FEBS J] 2021 Jan; Vol. 288 (2), pp. 437-451. Date of Electronic Publication: 2020 May 11.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies Country of Publication: England NLM ID: 101229646 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-4658 (Electronic) Linking ISSN: 1742464X NLM ISO Abbreviation: FEBS J Subsets: MEDLINE

Authors: Lightowlers RN; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Chrzanowska-Lightowlers ZM; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Russell OM; Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.

Source: EMBO reports [EMBO Rep] 2020 Sep 03; Vol. 21 (9), pp. e50964. Date of Electronic Publication: 2020 Aug 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

Authors: Albus CA; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Berlinguer-Palmini R; Bioimaging Unit, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Hewison C; School of Biomedical, Nutritional, and Sport Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., McFarlane F; School of Biomedical, Nutritional, and Sport Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Savu EA; School of Biomedical, Nutritional, and Sport Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Lightowlers RN; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Zorkau M; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Source: Biology [Biology (Basel)] 2021 Oct 15; Vol. 10 (10). Date of Electronic Publication: 2021 Oct 15.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE

Authors: Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, UK., Lightowlers RN; Wellcome Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, Medical School, Newcastle University, Newcastle upon Tyne, UK.

Source: EMBO molecular medicine [EMBO Mol Med] 2019 Jan; Vol. 11 (1).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Comment

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Authors: Thompson K; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Mai N; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Oláhová M; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Scialó F; Institute for Cell and Molecular Biosciences, Newcastle University Institute for Ageing, Newcastle University, Newcastle upon Tyne, UK., Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia., Stroud DA; Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Vic., Australia., Garrett M; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia., Lax NZ; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Robertson FM; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Jou C; Pathology Department, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain., Nascimento A; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain., Ortez C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain., Jimenez-Mallebrera C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain., Hardy SA; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., He L; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Brown GK; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Marttinen P; Institute of Biotechnology, University of Helsinki, Helsinki, Finland., McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Sanz A; Institute for Cell and Molecular Biosciences, Newcastle University Institute for Ageing, Newcastle University, Newcastle upon Tyne, UK., Battersby BJ; Institute of Biotechnology, University of Helsinki, Helsinki, Finland., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia., Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Lightowlers RN; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK robert.taylor@ncl.ac.uk.

Source: EMBO molecular medicine [EMBO Mol Med] 2018 Nov; Vol. 10 (11).

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Authors: Zorkau M; Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle University, Medical School, Newcastle Upon Tyne, UK., Proctor-Kent Y; Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle University, Medical School, Newcastle Upon Tyne, UK., Berlinguer-Palmini R; Newcastle University Bioimaging Unit, Newcastle University, Medical School, Newcastle Upon Tyne, UK., Hamilton A; School of Medicine, Dentistry and Nursing, Glasgow University, Glasgow, UK., Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle University, Medical School, Newcastle Upon Tyne, UK. zofia.chrzanowska-lightowlers@ncl.ac.uk., Lightowlers RN; Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle University, Medical School, Newcastle Upon Tyne, UK. Robert.Lightowlers@ncl.ac.uk.

Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2021; Vol. 2192, pp. 159-181.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

MeSH Terms: Click Chemistry/*methods , Immunohistochemistry/*methods , In Situ Hybridization, Fluorescence/*methods , Mitochondrial Proteins/*metabolism , Mitochondrial Ribosomes/*metabolism , RNA, Mitochondrial/*metabolism , RNA, Ribosomal/*metabolism, Amino Acids/chemistry ; Cell Line, Tumor ; DNA, Mitochondrial/genetics ; Humans ; Microscopy, Fluorescence/methods ; Oxidative Phosphorylation ; Protein Biosynthesis ; Ribosomal Proteins/metabolism

Authors: Rozanska A; Institute for Cell and Molecular Bioscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K., Richter-Dennerlein R; The Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K., Rorbach J; The Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K., Gao F; Institute for Cell and Molecular Bioscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K., Lewis RJ; Institute for Cell and Molecular Bioscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K., Chrzanowska-Lightowlers ZM; The Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K. zofia.chrzanowska-lightowlers@ncl.ac.uk robert.lightowlers@ncl.ac.uk., Lightowlers RN; Institute for Cell and Molecular Bioscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K. zofia.chrzanowska-lightowlers@ncl.ac.uk robert.lightowlers@ncl.ac.uk.; The Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, U.K.

Source: The Biochemical journal [Biochem J] 2017 Jun 13; Vol. 474 (13), pp. 2145-2158. Date of Electronic Publication: 2017 Jun 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Electronic Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

Authors: Bruni F; The Wellcome Trust Centre for Mitochondrial Research, The Medical School, Newcastle University, UK., Lightowlers RN; The Wellcome Trust Centre for Mitochondrial Research, The Medical School, Newcastle University, UK., Chrzanowska-Lightowlers ZM; The Wellcome Trust Centre for Mitochondrial Research, The Medical School, Newcastle University, UK.

Source: The FEBS journal [FEBS J] 2017 Jun; Vol. 284 (12), pp. 1767-1777. Date of Electronic Publication: 2017 Feb 01.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies Country of Publication: England NLM ID: 101229646 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-4658 (Electronic) Linking ISSN: 1742464X NLM ISO Abbreviation: FEBS J Subsets: MEDLINE

Authors: Mai N; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Chrzanowska-Lightowlers ZM; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. zofia.chrzanowska-lightowlers@ncl.ac.uk.; Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. zofia.chrzanowska-lightowlers@ncl.ac.uk., Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. robert.lightowlers@ncl.ac.uk.

Source: Cell and tissue research [Cell Tissue Res] 2017 Jan; Vol. 367 (1), pp. 5-20. Date of Electronic Publication: 2016 Jul 14.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0417625 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0878 (Electronic) Linking ISSN: 0302766X NLM ISO Abbreviation: Cell Tissue Res Subsets: MEDLINE

Authors: Oláhová M; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Thompson K; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Hardy SA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Barbosa IA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK., Besse A; Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Anagnostou ME; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., White K; Electron Microscopy Research Services, Newcastle University, Newcastle upon Tyne, UK., Davey T; Electron Microscopy Research Services, Newcastle University, Newcastle upon Tyne, UK., Simpson MA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK., Champion M; Department of Inherited Metabolic Disease, Guy's and St Thomas' NHS Foundation Trusts, Evelina London Children's Hospital, London, UK., Enns G; Lucile Packard Children's Hospital Stanford and Stanford University Medical Center, Palo Alto, CA, USA., Schelley S; Lucile Packard Children's Hospital Stanford and Stanford University Medical Center, Palo Alto, CA, USA., Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Chrzanowska-Lightowlers ZM; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Deshpande C; Clinical Genetics Unit, Guys and St Thomas' NHS Foundation Trust, London, UK., Bonnen PE; Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. robert.taylor@ncl.ac.uk.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 Jan; Vol. 40 (1), pp. 121-130. Date of Electronic Publication: 2016 Sep 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Authors: Spåhr H; Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany Spahr@age.mpg.de., Rozanska A; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Li X; Proteomics Core Facility, Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany., Atanassov I; Proteomics Core Facility, Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany., Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Chrzanowska-Lightowlers ZM; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Rackham O; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia 6009, Australia School of Chemistry and Biochemistry, The University of Western Australia, Crawley, Western Australia 6009, Australia., Larsson NG; Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden Larsson@age.mpg.de.

Source: Nucleic acids research [Nucleic Acids Res] 2016 Aug 19; Vol. 44 (14), pp. 6868-82. Date of Electronic Publication: 2016 Jun 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Authors: Ayyub SA; The Wellcome Centre for Mitochondrial Research, Newcastle University, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Gao F; The Wellcome Centre for Mitochondrial Research, Newcastle University, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Lightowlers RN; The Wellcome Centre for Mitochondrial Research, Newcastle University, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK zofia.chrzanowska-lightowlers@ncl.ac.uk Robert.lightowlers@ncl.ac.uk., Chrzanowska-Lightowlers ZM; The Wellcome Centre for Mitochondrial Research, Newcastle University, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK zofia.chrzanowska-lightowlers@ncl.ac.uk Robert.lightowlers@ncl.ac.uk.

Source: Journal of cell science [J Cell Sci] 2020 Jan 02; Vol. 133 (1). Date of Electronic Publication: 2020 Jan 02.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE

MeSH Terms: Bacteria/*metabolism , Mitochondrial Ribosomes/*metabolism, Animals

Authors: Oláhová M; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Haack TB; 1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany [2] Institute of Human Genetics, Technische Universität München, Munich, Germany., Alston CL; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Houghton JA; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., He L; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Morris AA; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Brown GK; Department of Biochemistry, University of Oxford, Oxford, UK., McFarland R; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Chrzanowska-Lightowlers ZM; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK., Prokisch H; 1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany [2] Institute of Human Genetics, Technische Universität München, Munich, Germany., Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jul; Vol. 23 (7), pp. 935-9. Date of Electronic Publication: 2014 Oct 08.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Authors: Chrzanowska-Lightowlers ZM; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Medical School, Newcastle upon Tyne, United Kingdom., Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Medical School, Newcastle upon Tyne, United Kingdom.

Source: PLoS genetics [PLoS Genet] 2015 Jun 18; Vol. 11 (6), pp. e1005227. Date of Electronic Publication: 2015 Jun 18 (Print Publication: 2015).

Publication Type: Journal Article; Comment

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Authors: Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences Medical School Newcastle University, Newcastle upon Tyne, UK., Chrzanowska-Lightowlers ZM; Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences Medical School Newcastle University, Newcastle upon Tyne, UK.

Source: EMBO molecular medicine [EMBO Mol Med] 2014 Jun; Vol. 6 (6), pp. 705-7. Date of Electronic Publication: 2014 Apr 06.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Comment

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Authors: Hornig-Do HT; The Wellcome Trust Centre for Mitochondrial Research Institute for Ageing and Health The Medical School, Newcastle University, Newcastle upon Tyne, UK., Montanari A, Rozanska A, Tuppen HA, Almalki AA, Abg-Kamaludin DP, Frontali L, Francisci S, Lightowlers RN, Chrzanowska-Lightowlers ZM

Source: EMBO molecular medicine [EMBO Mol Med] 2014 Feb; Vol. 6 (2), pp. 183-93. Date of Electronic Publication: 2014 Jan 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Authors: Bruni F; The Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, The Medical School, Newcastle upon Tyne, United Kingdom., Gramegna P, Oliveira JM, Lightowlers RN, Chrzanowska-Lightowlers ZM

Source: PloS one [PLoS One] 2013 May 31; Vol. 8 (5), pp. e64670. Date of Electronic Publication: 2013 May 31 (Print Publication: 2013).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Authors: Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria., Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Kishita Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan., Garone C; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK; Department of Neurology, Columbia University Medical Center, New York, NY 10032-3784, USA., Kremer LS; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Yagi M; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan., Uchiumi T; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan., Jourdain AA; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., D'Souza AR; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK., Kopajtich R; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany., Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Koch J; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria., Sperl W; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria., Mastantuono E; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Wortmann SB; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany., Pierre G; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol BS1 3NU, UK., Chinnery PF; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK., Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Lightowlers RN; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., DiMauro S; Department of Neurology, Columbia University Medical Center, New York, NY 10032-3784, USA., Calvo SE; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Mootha VK; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Moggio M; Neuromuscular Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy., Sciacco M; Neuromuscular Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy., Comi GP; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy., Ronchi D; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan., Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama 350-0495, Japan., Rebelo-Guiomar P; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK; Graduate Program in Areas of Basic and Applied Biology, University of Porto, 4099-002 Porto, Portugal., Kohda M; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan., Kang D; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Okazaki Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan., Minczuk M; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK., Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: prokisch@helmholtz-muenchen.de.

Source: American journal of human genetics [Am J Hum Genet] 2017 Oct 05; Vol. 101 (4), pp. 525-538. Date of Electronic Publication: 2017 Sep 21.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

MeSH Terms: Mutation*, Cardiomyopathies/*genetics , Carrier Proteins/*genetics , Electron Transport/*physiology , Mitochondrial Diseases/*genetics , Mitochondrial Proteins/*genetics, Adult ; Age of Onset ; Aged ; Alleles ; Amino Acid Sequence ; Animals ; Cardiomyopathies/complications ; Cardiomyopathies/pathology ; Carrier Proteins/chemistry ; Carrier Proteins/metabolism ; Cells, Cultured ; Child, Preschool ; Cohort Studies ; DNA, Mitochondrial ; Embryo, Mammalian/metabolism ; Embryo, Mammalian/pathology ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Humans ; Infant, Newborn ; Male ; Mice ; Middle Aged ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/pathology ; Mitochondrial Proteins/chemistry ; Mitochondrial Proteins/metabolism ; Oxidative Phosphorylation ; Pedigree ; Protein Conformation ; Sequence Homology ; Severity of Illness Index ; Young Adult

Authors: Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK. r.n.lightowlers@ncl.ac.uk, Chrzanowska-Lightowlers ZM

Source: EMBO reports [EMBO Rep] 2012 Dec; Vol. 13 (12), pp. 1038-9. Date of Electronic Publication: 2012 Nov 13.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE