Publications by authors named "Helen A L Tuppen"

15 Publications

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Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

Authors:
Diana Lehmann Helen A L Tuppen Georgia E Campbell Charlotte L Alston Conor Lawless Hannah S Rosa Mariana C Rocha Amy K Reeve Thomas J Nicholls Marcus Deschauer Stephan Zierz Robert W Taylor Doug M Turnbull Amy E Vincent

Nucleic Acids Res 2019 08;47(14):7430-7443

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

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August 2019

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

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.

Authors:
Elena Perli Carla Giordano Helen A L Tuppen Monica Montopoli Arianna Montanari Maurizia Orlandi Annalinda Pisano Daniela Catanzaro Laura Caparrotta Beatrice Musumeci Camillo Autore Veronica Morea Patrizio Di Micco Antonio F Campese Martina Leopizzi Pietro Gallo Silvia Francisci Laura Frontali Robert W Taylor Giulia d'Amati

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

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

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.

Authors:
Rita Horvath John P Kemp Helen A L Tuppen Gavin Hudson Anders Oldfors Suely K N Marie Ali-Reza Moslemi Serenella Servidei Elisabeth Holme Sara Shanske Gittan Kollberg Parul Jayakar Angela Pyle Harold M Marks Elke Holinski-Feder Mena Scavina Maggie C Walter Jorida Coku Andrea Günther-Scholz Paul M Smith Robert McFarland Zofia M A Chrzanowska-Lightowlers Robert N Lightowlers Michio Hirano Hanns Lochmüller Robert W Taylor Patrick F Chinnery Mar Tulinius Salvatore DiMauro

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