Publications by authors named "Helen A Tuppen"

26 Publications

  • Page 1 of 1

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease.

Neurobiol Aging 2018 03 8;63:120-127. Epub 2017 Dec 8.

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

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

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

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

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.

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

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

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.

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.

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.

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

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

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.

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

Mitochondrial DNA disease: new options for prevention.

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

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

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

Mitochondrial DNA mutations and human disease.

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