Publications by Dr Helen Tuppen - ePrints

Browsing publications by Dr Helen Tuppen.

Newcastle Authors	Title	Year
Dr Helen Tuppen Dr Amy Reeve Dr Amy Vincent	Single Cell Analysis of Mitochondrial DNA Deletions	2023
Dr Alaa Abouhajar Dr Lisa Alcock Dr Theophile Bigirumurame Penny Bradley Laura Brown et al.	Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy	2022
Dr Diana Lehmann Dr Helen Tuppen Georgia Campbell Charlotte Alston Dr Conor Lawless et al.	Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level	2019
Dr Mariana Rocha Hannah Rosa Dr John Grady Dr Langping He Jane Newman et al.	Pathological mechanisms underlying single large-scale mitochondrial DNA deletions	2018
Dr Karolina Rygiel Dr Helen Tuppen Dr John Grady Dr Amy Vincent Dr Amy Reeve et al.	Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis	2016
Dr Helen Tuppen Professor Robert Taylor	Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations	2016
Dr Louise Hyslop Dr Lyndsey Butterworth Mahdi Lamb Dr Nilendran Prathalingam Qi Zhang et al.	Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease	2016
Dr Helen Tuppen Professor Robert Taylor	A novel mitochondrial DNA m.7507A > G mutation is only pathogenic at high levels of heteroplasmy	2015
Professor Grainne Gorman Dr Hue Hornig - Do Dr Helen Tuppen Dr Laura Greaves Dr Langping He et al.	Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression	2015
Dr Diana Lehmann Dr Steven Hardy Dr Helen Tuppen Karen Baty Professor Robert Taylor et al.	Pathogenic mitochondrial mt-tRNA^Ala variants are uniquely associated with isolated myopathy	2015
Dr Karolina Rygiel Dr John Grady Professor Robert Taylor Dr Helen Tuppen Emeritus Professor Doug Turnbull et al.	Triple real-time PCR - an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells	2015
Dr John Grady Dr Julie Murphy Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Helen Tuppen et al.	Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle	2014
Dr Laura Greaves Marco Nooteboom Dr Joanna Elson Dr Helen Tuppen Geoffrey Taylor et al.	Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing	2014
Dr Stuart Williamson Laura Wilson Graeme Williamson Dr Laura Greaves Dr Helen Tuppen et al.	Finding a niche. The location of human prostate stem cells	2014
Dr Hue Hornig - Do Dr Arianna Montanari Dr Agata Rozanska Dr Helen Tuppen Abdulraheem Almalki et al.	Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations	2014
Dr Arianna Montanari Dr Helen Tuppen Professor Robert Taylor	The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells	2014
Gareth Greggains Dr Lisa Ferguson Dr Helen Tuppen Qi Zhang Dr Nilendran Prathalingam et al.	Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations	2014
Dr Helen Tuppen Dr Langping He Professor Robert Taylor	Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features	2013
Dr Helen Tuppen Dr Arianna Montanari Martina Leopizzi Professor Robert Taylor	Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy	2012
Dr Helen Tuppen John Yarham Professor Robert Taylor Professor Bobby McFarland	Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy	2012
Dr Lyndsey Butterworth Dr Joanna Elson Dr Helen Tuppen Dr Lisa Ferguson Gareth Greggains et al.	Mitochondrial DNA disease: new options for prevention	2011
Dr Angela Pyle Vivienne Neeve Dr Helen Tuppen Professor Hanns Lochmuller Professor Bobby McFarland et al.	Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency	2011
Professor Rita Horvath Dr Helen Tuppen Dr Gavin Hudson Dr Angela Pyle Dr Paul Smith et al.	Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Dr Helen Tuppen Emeritus Professor Doug Turnbull Professor Robert Taylor	Mitochondrial DNA mutations and human disease	2010
Dr Lyndsey Butterworth Dr Helen Tuppen Gareth Greggains Dr Julie Murphy Dr Lynsey Cree et al.	Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease	2010
Dr Helen Tuppen Dr Vanessa Hogan Dr Langping He Dr Mazhor Aldosary Dr Gabriele Saretzki et al.	The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families	2010
Professor Rita Horvath Dr Helen Tuppen Dr Gavin Hudson Dr Angela Pyle Dr Paul Smith et al.	Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy	2009
Professor Bobby McFarland Dr Helen Tuppen Dr Andrew Morris Dr Anita Devlin Professor Robert Taylor et al.	Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle	2009
Dr Helen Tuppen Professor Bobby McFarland Professor Robert Taylor Dr Andrew Morris	The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome	2009
Dr Helen Tuppen Fabiana Fattori Professor Bobby McFarland Professor Robert Taylor	Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations	2008
Dr Joanna Rorbach Dr Helen Tuppen Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation	2008
Professor Bobby McFarland Professor Patrick Chinnery Dr Andrew Schaefer Dr Andrew Morris Sharon Foster et al.	Homoplasmy, heteroplasmy, and mitochondrial dystonia	2007