Helen A Tuppen

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway. Electronic address:

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March 2018

Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

Nature 2016 10 27;538(7626):542. Epub 2016 Jul 27.

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October 2016

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

Nature 2016 06 8;534(7607):383-6. Epub 2016 Jun 8.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Biomedicine West Wing, Centre for Life, Times Square, Newcastle upon Tyne NE1 3BZ, UK.

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June 2016

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

Authors:

Karolina A Rygiel Helen A Tuppen John P Grady Amy Vincent Emma L Blakely Amy K Reeve Robert W Taylor Martin Picard James Miller Doug M Turnbull

Nucleic Acids Res 2016 06 30;44(11):5313-29. Epub 2016 Apr 30.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK Newcastle University Centre for Ageing and Vitality, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK

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June 2016

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.

Authors:

Elena Perli Annarita Fiorillo Carla Giordano Annalinda Pisano Arianna Montanari Paola Grazioli Antonio F Campese Patrizio Di Micco Helen A Tuppen Ilaria Genovese Elena Poser Carmela Preziuso Robert W Taylor Veronica Morea Gianni Colotti Giulia d'Amati

Hum Mol Genet 2016 Mar 31;25(5):903-15. Epub 2015 Dec 31.

Department of Radiology, Oncology and Pathology, Pasteur Institute-Cenci Bolognetti Foundation, Rome 00161, Italy,

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March 2016

Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.

Authors:

Karolina A Rygiel John P Grady Robert W Taylor Helen A L Tuppen Doug M Turnbull

Sci Rep 2015 May 19;5:9906. Epub 2015 May 19.

Wellcome Trust Centre for Mitochondrial Research and Newcastle University Centre for Ageing and Vitality, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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May 2015

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Authors:

Diana Lehmann Kathrin Schubert Pushpa R Joshi Steven A Hardy Helen A L Tuppen Karen Baty Emma L Blakely Christian Bamberg Stephan Zierz Marcus Deschauer Robert W Taylor

Eur J Hum Genet 2015 Dec 15;23(12):1735-8. Epub 2015 Apr 15.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.

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December 2015

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

Authors:

Grainne S Gorman Emma L Blakely Hue-Tran Hornig-Do Helen A L Tuppen Laura C Greaves Langping He Angela Baker Gavin Falkous Jane Newman Michael I Trenell Bryan Lecky Richard K Petty Doug M Turnbull Robert McFarland Robert W Taylor

Clin Sci (Lond) 2015 Jun;128(12):895-904

*Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, U.K.

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June 2015

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

Authors:

Beverly Jo McCann Helen A L Tuppen Benno Küsters Martin Lammens Jan A M Smeitink Robert W Taylor Richard J Rodenburg Saskia B Wortmann

Neuromuscul Disord 2015 Mar 13;25(3):262-7. Epub 2014 Nov 13.

Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Nijmegen, The Netherlands. Electronic address:

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March 2015

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

Authors:

John P Grady Julie L Murphy Emma L Blakely Ronald G Haller Robert W Taylor Doug M Turnbull Helen A L Tuppen

PLoS One 2014 4;9(12):e114462. Epub 2014 Dec 4.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

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December 2015

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

Authors:

Laura C Greaves Marco Nooteboom Joanna L Elson Helen A L Tuppen Geoffrey A Taylor Daniel M Commane Ramesh P Arasaradnam Konstantin Khrapko Robert W Taylor Thomas B L Kirkwood John C Mathers Douglass M Turnbull

PLoS Genet 2014 Sep 18;10(9):e1004620. Epub 2014 Sep 18.

Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.

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September 2014

Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.

Authors:

Gareth D Greggains Lisa M Lister Helen A L Tuppen Qi Zhang Louise H Needham Nilendran Prathalingam Louise A Hyslop Lyndsey Craven Zbigniew Polanski Alison P Murdoch Douglass M Turnbull Mary Herbert

Sci Rep 2014 Jan 24;4:3844. Epub 2014 Jan 24.

1] Wellcome Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK [2] Newcastle Fertility Centre, Centre for Life, Times Square, Newcastle upon Tyne, UK.

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January 2014

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.

Authors:

Elena Perli Carla Giordano Annalinda Pisano Arianna Montanari Antonio F Campese Aurelio Reyes Daniele Ghezzi Alessia Nasca Helen A Tuppen Maurizia Orlandi Patrizio Di Micco Elena Poser Robert W Taylor Gianni Colotti Silvia Francisci Veronica Morea Laura Frontali Massimo Zeviani Giulia d'Amati

EMBO Mol Med 2014 02 10;6(2):169-82. Epub 2014 Jan 10.

Department of Radiology, Oncology and Pathology, Sapienza University of Rome, Rome, Italy.

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February 2014

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations.

Authors:

Hue Tran Hornig-Do Arianna Montanari Agata Rozanska Helen A Tuppen Abdulraheem A Almalki Dyg P Abg-Kamaludin Laura Frontali Silvia Francisci Robert N Lightowlers Zofia M Chrzanowska-Lightowlers

EMBO Mol Med 2014 02 10;6(2):183-93. Epub 2014 Jan 10.

The Wellcome Trust Centre for Mitochondrial Research Institute for Ageing and Health The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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February 2014

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

Authors:

Carla Giordano Elena Perli Maurizia Orlandi Annalinda Pisano Helen A Tuppen Langping He Rocco Ierinò Luciano Petruzziello Amedeo Terzi Camillo Autore Vincenzo Petrozza Pietro Gallo Robert W Taylor Giulia d'Amati

Hum Pathol 2013 Jul 17;44(7):1262-70. Epub 2013 Jan 17.

Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I, Viale Regina Elena 324, 00161 Rome, Italy.

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July 2013

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Authors:

Helen A L Tuppen Karin Naess Nancy G Kennaway Mazhor Al-Dosary Nicole Lesko John W Yarham Helene Bruhn Rolf Wibom Inger Nennesmo Richard G Weleber Emma L Blakely Robert W Taylor Robert McFarland

Eur J Hum Genet 2012 Aug 29;20(8):897-904. Epub 2012 Feb 29.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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August 2012

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

Hum Mol Genet 2012 Jan 26;21(1):85-100. Epub 2011 Sep 26.

Department of Internal Medicine and Medical Specialities, Sapienza University of Rome, 00161 Roma, Italy.

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January 2012

Mitochondrial DNA disease: new options for prevention.

Authors:

Lyndsey Craven Joanna L Elson Laura Irving Helen A Tuppen Lisa M Lister Gareth D Greggains Samantha Byerley Alison P Murdoch Mary Herbert Doug Turnbull

Hum Mol Genet 2011 Oct 18;20(R2):R168-74. Epub 2011 Aug 18.

Mitochondrial Research Group and Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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October 2011

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Authors:

John P Kemp Paul M Smith Angela Pyle Vivienne C M Neeve Helen A L Tuppen Ulrike Schara Beril Talim Haluk Topaloglu Elke Holinski-Feder Angela Abicht Birgit Czermin Hanns Lochmüller Robert McFarland Patrick F Chinnery Zofia M A Chrzanowska-Lightowlers Robert N Lightowlers Robert W Taylor Rita Horvath

Brain 2011 Jan 17;134(Pt 1):183-95. Epub 2010 Dec 17.

Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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January 2011

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Authors:

Helen A L Tuppen Vanessa E Hogan Langping He Emma L Blakely Lisa Worgan Mazhor Al-Dosary Gabriele Saretzki Charlotte L Alston Andrew A Morris Michael Clarke Simon Jones Anita M Devlin Sahar Mansour Zofia M A Chrzanowska-Lightowlers David R Thorburn Robert McFarland Robert W Taylor

Brain 2010 Oct 6;133(10):2952-63. Epub 2010 Sep 6.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne, UK.

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October 2010

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Authors:

Helen A L Tuppen Janev Fehmi Birgit Czermin Paola Goffrini Francesca Meloni Iliana Ferrero Langping He Emma L Blakely Robert McFarland Rita Horvath Douglass M Turnbull Robert W Taylor

Mol Genet Metab 2010 Aug 24;100(4):345-8. Epub 2010 Apr 24.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

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August 2010

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.

Authors:

Lyndsey Craven Helen A Tuppen Gareth D Greggains Stephen J Harbottle Julie L Murphy Lynsey M Cree Alison P Murdoch Patrick F Chinnery Robert W Taylor Robert N Lightowlers Mary Herbert Douglass M Turnbull

Nature 2010 May 14;465(7294):82-5. Epub 2010 Apr 14.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle upon Tyne NE2 4HH, UK.

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May 2010

Mitochondrial DNA mutations and human disease.

Authors:

Helen A L Tuppen Emma L Blakely Douglass M Turnbull Robert W Taylor

Biochim Biophys Acta 2010 Feb 15;1797(2):113-28. Epub 2009 Sep 15.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE24HH, UK.

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February 2010

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Brain 2009 Nov 31;132(Pt 11):3165-74. Epub 2009 Aug 31.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

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November 2009

Publications by authors named "Helen A Tuppen"

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