Staff Profile

Professor Doug Turnbull areas of expertise are mitochondrial disease and neurology.

Academic background

• Emeritus Professor of Neurology, University of Newcastle upon Tyne (1990-2020) 
• Honorary Consultant Neurologist, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne (1988-2020)
• Director Wellcome Centre for Mitochondrial Research, Newcastle University (2011-2020)
• Director MRC Centre for Ageing and Vitality, Newcastle University (2011- 2019)
• Lead NHS Highly Specialised Service for Rare Mitochondrial Disease of Adults and Children (2007-2019)

• Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 2018, 30, 86-93.
• Houghton D, Stewart CJ, Stamp C, Nelson A, Ajami NJ, Petrosino JF, Wipat A, Trenell MI, Turnbull DM, Greaves LC. Age-related mitochondrial dysfunction influences the mouse intestinal microbiome composition. The Journals of Gerontology: Series A, Biological Sciences & Medical Sciences 2018, 73(5), 571-578.
• Nathania M, Hollingsworth KG, Bates M, Eggett C, Trenell MI, Velicki L, Seferovic PM, MacGowan GA, Turnbull DM, Jakovljevic DG. Impact of age on the association between cardiac high-energy phosphate metabolism and cardiac power in women. Heart 2018, 104(2), 111-118.
• Grady JP, Pickett SJ, Ng YS, Alston CI, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Molecular Medicine 2018, 10(6), e8262.
• Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Annals of Neurology 2018, 83(1), 115-130.
• Pickett S, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Annals of Clinical and Translational Neurology 2018, 5(3), 333-345.
• Russell OM, Fruh I, Rai PK, Marcellin D, Doll T, Reeve A, Germain M, Bastien J, Rygiel KA, Cerino R, Sailer AW, Lako M, Taylor RW, Mueller M, Lightowlers RN, Turnbull DM, Helliwell SB. Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo. Scientific Reports 2018, 8(1), 1799.
• Herbert M, Turnbull D. Progress in mitochondrial replacement therapies. Nature Reviews Molecular Cell Biology 2018, 19(2), 71-72.
• Craven L, Murphy J, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Scientific and Ethical Issues in Mitochondrial Donation. New Bioethics 2018, 24(1), 57-73.
• Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson N-G, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Molecular Cell 2018, 69(1), 9-23.e6.
• Lax NZ, Gorman GS, Turnbull DM. Central nervous system involvement in mitochondrial disease. Neuropathology and Applied Neurobiology 2017, 43(2), 102-118.
• Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, De Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology 2017, 74(6), 686-694.
• Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM. Decreased male reproductive success in association with mitochondrial dysfunction. European Journal of Human Genetics 2017, 25(10), 1162-1164.
• Lin H, Patel S, Affleck VS, Wilson I, Turnbull DM, Joshi AR, Maxwell R, Stoll EA. Fatty acid oxidation is required for the respiration and proliferation of malignant glioma cells. Neuro-Oncology 2017, 19(1), 43-54.
• Houghton D, Stewart CJ, Stamp C, Nelson A, Ajami NJ, Petrosino JF, Wipat A, Trenell MI, Turnbull DM, Greaves LC. Impact of Age-Related Mitochondrial Dysfunction and Exercise on Intestinal Microbiota Composition. The Journals of Gerontology: Series A 2017, 73(5), 571-578.
• Mancuso M, McFarland R, Klopstock T, Hirano M, Artuch R, Bertini E, Bindoff L, Carelli V, Gorman G, Hirano M, Horvath R, Kaufmann P, Klopstock T, Koga Y, Koene S, Lamperti C, McFarland R, Mancuso M, Montoya J, Javier Perez-Minguez Caneda F, Procaccio V, Prokisch H, Rahman S, Santantonio P, Schulke M, Servidei S, Shungu DC, Siciliano G, Smeitink J, Taivassalo T, Thompson JLP, Turnbull D, Van der Veer E, Yeske PE, Zeviani M. International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscular Disorders 2017, 27(12), 1126-1137.
• Herbert M, Turnbull D. Mitochondrial donation - Clearing the final regulatory hurdle in the United Kingdom. New England Journal of Medicine 2017, 376(2), 171-173.
• Vincent AE, Turnbull DM, Eisner V, Hajnóczky G, Picard M. Mitochondrial Nanotunnels. Trends in Cell Biology 2017, 27(11), 787-799.
• Rygiel KA, Dodds RM, Patel HP, Syddall HE, Westbury LD, Granic A, Cooper C, Cliff J, Rocha MC, Turnbull DM, Sayer AA. Mitochondrial respiratory chain deficiency in older men and its relationship with muscle mass and performance. Journal of Cachexia, Sarcopenia and Muscle - Clinical Reports 2017, 2(2), e00035.
• Moad M, Hannezo E, Buczacki SJ, Wilson L, ElSherif A, Sims D, Pickard R, Wright NA, Williamson SC, Turnbull DM, Taylor RW, Greaves L, Robson CN, Simons BD, Heer R. Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates. Cell Reports 2017, 20(7), 1609-1622.
• Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M. Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia. Neurology Genetics 2017, 3(5), e181.
• Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW. Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia. Neurology Genetics 2017, 3(6), e202.
• McCoy J, Bates M, Eggett C, Siervo M, Cassidy S, Newman J, Moore SA, Gorman G, Trenell MI, Velicki L, Seferovic PM, Cleland JGF, MacGowan GA, Turnbull DM, Jakovljevic DG. Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients. Open Heart 2017, 4, e000632.
• Craven L, Alston CL, Taylor RW, Turnbull DM. Recent Advances in Mitochondrial Disease. Annual Review of Genomics and Human Genetics 2017, 18, 257-275.
• Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. Journal of Pathology 2017, 241(2), 236-250.
• Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Olahova M, McFarland R, Turnbull DM, Rocha MC, Taylor RW. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Scientific Reports 2017, 7(1), 15676.
• Khundakar AA, Hanson PS, Erskine D, Lax NZ, Roscamp J, Karyka E, Tsefou E, Singh P, Cockell SJ, Gribben A, Ramsay L, Blain PJ, Mosimann UP, Lett DJ, Elstner M, Turnbull DM, Xiang CC, Brownstein MJ, O'Brien JT, Taylor JP, Attems J, Thomas AJ, McKeith IG, Morris CM. Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations. Acta Neuropathologica Communications 2016, 4, 66.
• Russell OM, Lightowlers RN, Turnbull DM. Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia. Molecular Cell 2016, 62(1), 5-6.
• Ehinger JK, Piel S, Ford R, Karlsson M, Sjovall F, Frostner EA, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmer E. Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. Nature Communications 2016, 7, 12317.
• Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurology 2016, 73(6), 668-674.
• Vincent AE, Rosa H, Rygiel KA, Grady JP, Rocha MC, Taylor RW, Picard M, Turnbull DM. Clonal expansion of mtDNA deletions in skeletal muscle: new insights into mechanisms. In: Mitochondria Research Society/United Mitochondrial Disease Foundation Meeting. 2016, Elsevier BV.
• Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Research 2016, 44(11), 5313-5329.
• Phillips J, Laude A, Lightowlers R, Morris CM, Turnbull DM, Lax NZ. Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease. Scientific Reports 2016, 6, 26013.
• Sachdeva A, El-Sherif A, Turnbull D, Greaves L, Heer R. Development of prostate intra-epithelial neoplasia in an aging series of PolgA mutator mice suggests a role for mitochondrial DNA mutations in prostate carcinogenesis. In: EAU16 – 31st Annual Congress of the European Association of Urology. 2016, Munich, Germany: Elsevier.
• Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM. Dysferlin mutations and mitochondrial dysfunction. Neuromuscular Disorders 2016, 26(11), 782-788.
• Picard M, Vincent AE, Turnbull DM. Expanding Our Understanding of mtDNA Deletions. Cell Metabolism 2016, 24(1), 3-4.
• Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Whittaker RG, Ng Y, Cunningham MO, Turnbull DM. Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease. Neuropathology and Applied Neurobiology 2016, 42(2), 180-193.
• Cadete VJJ, Deschenes S, Cuillerier A, Brisebois F, Sugiura A, Vincent A, Turnbull D, Picard M, McBride HM, Burelle Y. Formation of mitochondrial-derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system. Journal of Physiology 2016, 594(18), 5343-5362.
• Turnbull DM, Rustin P. Genetic and biochemical intricacy shapes mitochondrial cytopathies. Neurobiology of Disease 2016, 92(Part A), 55-63.
• Chrysostomou A, Turnbull DM. Mitochondria, the synapse, and neurodegeneration. In: Reeve A; Simcox E; Duchen M; Turnbull D, ed. Mitochondrial Dysfunction in Neurodegenerative Disorders: Second Edition. Cham: Springer International Publishing, 2016, pp.219-239.
• Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. Journal of Neurology 2016, 263(1), 179-191.
• Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nature Reviews Disease Primers 2016, 2, 16080.
• Grunewald A, Rygiel KA, Hepplewhite PD, Morris CM, Picard M, Turnbull DM. Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons. Annals of Neurology 2016, 79(3), 366-378.
• Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscular Disorders 2016, 26(10), 691-701.
• Reeve AK, Simcox E, Duchen MR, Turnbull DM. Mitochondrial dysfunction in neurodegenerative disorders: Second edition. Cham: Springer International Publishing, 2016.
• Stoll EA, Karapavlovic N, Rosa H, Woodmass M, Rygiel K, White K, Turnbull DM, Faulkes CG. Naked mole-rats maintain healthy skeletal muscle and Complex IV mitochondrial enzyme function into old age. Aging (Albany) 2016, 8(12), 3468–3483.
• Chan F, Lax NZ, Davies CH, Turnbull DM, Cunningham MO. Neuronal oscillations: a physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?. Neuropharmacology 2016, 102, 48-58.
• Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurology Genetics 2016, 2(4), e82.
• Reeve AK, Simcox E, Duchen MR, Turnbull DM. Preface. In: Reeve A; Simcox E; Duchen M; Turnbull D, ed. Mitochondrial Dysfunction in Neurodegenerative Disorders: Second Edition. Cham: Springer International Publishing, 2016, pp.v-v.
• Whittaker RG, Gorman G, Ng Y, Turnbull DM. Prevalence and Outcome of Mitochondrial Epilepsy Reply. Annals of Neurology 2016, 80(2), 314-314.
• Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Annals of Neurology 2016, 80(5), 686-692.
• Craven L, Herbert M, Murdoch A, Murphy J, Davies JL, Turnbull DM. Research into Policy: A Brief History of Mitochondrial Donation. Stem Cells 2016, 34(2), 265-267.
• Martikainen MH, Burn DJ, Turnbull DM. Spectrum of Movement Disorders in Mitochondrial Disorders Reply. JAMA Neurology 2016, 73(10), 1254-1255.
• Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. European Heart Journal 2016, 37(32), 2552-2559.
• Rygiel KA, Picard M, Turnbull DM. The ageing neuromuscular system and sarcopenia - A mitochondrial perspective. The Journal of Physiology 2016, 594(16), 4499-4512.
• Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Scientific Reports 2016, 6, 30610.
• Hyslop LA, Blakeley P, Craven L, Richardson J, Fogarty NME, Fragouli E, Lamb M, Wamaitha SE, Prathalingam N, Zhang Q, O'Keefe H, Takeda Y, Arizzi L, Alfarawati S, Tuppen H, Irving L, Kalleas D, Choudhary M, Wells D, Murdoch AP, Turnbull DM, Niakan KK, Herbert M. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. Nature 2016, 534(7607), 383-386.
• Dobson PF, Rocha MC, Grady JP, Chrysostomou A, Hipps D, Watson S, Greaves LC, Deehan DJ, Turnbull DM. Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA ^-/^- mice. Scientific Reports 2016, 6, 31907.
• Shaw S, Ng YS, Whittaker R, McFarland R, Turnbull D, Gorman G, Schaefer A. A clinical audit of acute management of stroke-like episodes from a national mitochondrial disease centre. In: 2015 ABN Annual Meeting. 2015, London, UK: BMJ Group.
• Martikainen MH, Gorman GS, Goldsmith P, Burn DJ, Turnbull DM, Schaefer AM. Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation. Movement Disorders 2015, 30(10), 1432-1433.
• Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM. Epilepsy in Adults With Mitochondrial Disease: A Cohort Study. Annals of Neurology 2015, 78(6), 949-957.
• Chrysostomou A, Grady JP, Laude A, Taylor RW, Turnbull DM, Lax NZ. Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease. Neuropathology and Applied Neurobiology 2016, 42(5), 477-492.
• Vincent A, Rocha M, Rygiel K, Grady J, Campbell G, Barresi R, Taylor R, Turnbull D. Mitochondrial dysfunction: A key player in myofibrillar myopathy?. In: 20th International Congress of the World Muscle Society. 2015, London, UK: Elsevier.
• Herbert M, Turnbull D. Mitochondrial replacement to prevent the transmission of mitochondrial DNA disease. EMBO Reports 2015, 16(5), 539-540.
• Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain?. Science 2015, 349(6255), 1494-1499.
• Stoll EA, Makin R, Sweet IR, Trevelyan AJ, Miwa S, Horner PJ, Turnbull DM. Neural stem cells in the adult subventricular zone oxidize fatty acids to produce energy and support neurogenic activity. Stem Cells 2015, 33(7), 2306-2319.
• Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HAL, Greaves LC, He LP, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clinical Science 2015, 128(12), 895-904.
• Gorman GS, Elson JL, Newman J, Payne B, McFarland R, Newton JL, Turnbull DM. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscular Disorders 2015, 25(7), 563-566.
• Rai PK, Russell OM, Lightowlers RN, Turnbull DM. Potential compounds for the treatment of mitochondrial disease. British Medical Bulletin 2015, 116(1), 5-18.
• Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Annals of Neurology 2015, 77(5), 753-759.
• Ng YS, Gorman GS, Turnbull DM, Martikainen MH. The diagnosis of posterior reversible encephalopathy syndrome. Lancet Neurology 2015, 14(11), 1073-1073.
• Hyslop L, Irving L, Richardson J, Craven L, Choudhary M, Murdoch A, Turnbull D, Herbert M. Towards therapeutic application of IVF-based techniques to prevent transmission of mtDNA disease. In: 31st ESHRE Annual Meeting. 2015, Lisbon, Portugal: Oxford University Press.
• Rygiel KA, Grady JP, Taylor RW, Tuppen HAL, Turnbull DM. Triple real-time PCR - an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells. Scientific Reports 2015, 5, 9906.
• Gorman GS, Pitceathly RDS, Turnbull DM, Taylor RW. RRM2B-Related Mitochondrial Disease. In: Mitochondrial Disorders Caused by Nuclear Genes. New York, NY, USA: Springer New York, 2013, pp.171-182.
• Craven L, Irving L, Herbert M, Turnbull D. Development of the Pronuclear Transfer Technique to Prevent Transmission of Mitochondrial DNA Disease in Humans. In: UK Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier.
• Hatton C, Reeve A, Lax NZ, Blain A, Ng YS, El-Agnaf O, Attems J, Taylor JP, Turnbull D, Erskine D. Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies. Acta Neuropathologica Communications 2020, (8), 103.
• Chen C, Vincent AE, Blain AP, Smith AL, Turnbull DM, Reeve AK. Investigation of mitochondrial biogenesis defects in single substantia nigra neurons using post-mortem human tissues. Neurobiology of Disease 2020, 134, 104631.
• Stefanetti RJ, Blain A, Jimenez-Moreno C, Errington L, Ng YS, McFarland R, Turnbull DM, Newman J, Gorman GS. Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]. Wellcome Open Research 2020, 5(84).
• Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Mitochondrial Diseases: Hope for the Future. Cell 2020, 181(1), 168-188.
• Dobson PF, Dennis EP, Hipps D, Reeve A, Laude A, Bradshaw C, Stamp C, Smith A, Deehan DJ, Turnbull DM, Greaves LC. Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss. Scientific Reports 2020, 10(1), 11643.
• Faitg J, Davey T, Turnbull DM, White K, Vincent AE. Mitochondrial morphology and function: two for the price of one!. Journal of Microscopy 2020, 278(2), 89-106.
• Moore HL, Blain AP, Turnbull DM, Gorman GS. Systematic review of cognitive deficits in adult mitochondrial disease. European Journal of Neurology 2020, 27(1), 3-17.
• Yarnall AJ, Granic A, Waite S, Hollingsworth KG, Warren C, Vincent AE, Turnbull DM, Taylor RW, Dodds RM, Sayer AA. The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson’s disease. Experimental Gerontology 2020, 138, 110997.
• Lawless C, Greaves L, Reeve AK, Turnbull DM, Vincent AE. The rise and rise of mitochondrial DNA mutations. Open biology 2020, 10(5), 200061.
• Jackson CB, Turnbull DM, Minczuk M, Gammage PA. Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective. Trends in Molecular Medicine 2020, 26(7), 698-709.
• Ng YS, Turnbull DM. When to think about mitochondrial disease. Practical Neurology 2020, 20(4), 260-261.
• Feeney CL, Lim AZ, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R. A case‐comparison study of pregnant women with mitochondrial disease – what to expect?. BJOG: An International Journal of Obstetrics and Gynaecology 2019, 126(11), 1380-1389.
• Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Mitochondrion 2019, 46, 302-306.
• Frazier AE, Vincent AE, Turnbull DM, Thorburn DR, Taylor RW. Assessment of mitochondrial respiratory chain enzymes in cells and tissues. In: Liza A. Pon, Eric A. Schon, ed. Mitochondria, 3rd Edition. London: Academic Press, 2020, pp.121-156.
• Moore HL, Kelly T, Bright A, Field RH, Schaefer AM, Blain AP, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability. Annals of Clinical and Translational Neurology 2019, 6(5), 826-836.
• Malcomson FC, Breininger SP, ElGendy K, Joel A, Ranathunga T, Hill TR, Bradburn DM, Turnbull DM, Greaves LC, Mathers JC. Design and baseline characteristics of the Biomarkers Of Risk In Colorectal Cancer (BORICC) Follow-Up study: A 12+ years follow-up. Nutrition and Health 2019, 25(3), 231-238.
• Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ. Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study. Brain Pathology 2019, 29(1), 97-113.
• Breininger SP, Malcomson FC, Afshar S, Turnbull DM, Greaves L, Mathers JC. Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk. Proceedings of the Nutrition Society 2019, 78(3), 426-437.
• Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T. Height as a clinical biomarker of disease burden in adult mitochondrial disease. Journal of Clinical Endocrinology and Metabolism 2019, 104(6), 2057-2066.
• Erskine D, Reeve AK, Polvikoski T, Schaefer AM, Taylor RW, Lax NZ, El-Agnaf O, Attems J, Gorman GS, Turnbull DM, Ng YS. Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls. Acta Neuropathologica 2020, 139, 219-221.
• Braz LP, Ng YS, Gorman GS, Schafer AM, McFarland R, Taylor RW, Turnbull DM, Whittaker RG. Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study. Neurology Clinical Practice 2019, ePub ahead of Print.
• Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study. Annals of Neurology 2019, 86(2), 310-315.
• Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M. Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network. Cell Reports 2019, 26(4), 996-1009.e4.
• Chan F, Lax NZ, Voss CM, Aldana BI, Whyte S, Jenkins A, Nicholson C, Nichols S, Tilley E, Powell Z, Waagepetersen HS, Davies CH, Turnbull DM, Cunningham MO. The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction. Brain 2019, 142(2), 391-411.
• Lehmann D, Tuppen HAL, Campbell G, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level. Nucleic Acids Research 2019, 47(14), 7430–7443.
• Ahmed ST, Craven C, Russell OM, Turnbull DM, Vincent AE. Diagnosis and Treatment of Mitochondrial Myopathies. Neurotherapeutics 2018, 15(4), 943-953.
• Su T, Grady JP, Afshar S, McDonald SAC, Taylor RW, Turnbull DM, Greaves LC. Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations. The Journal of Pathology 2018, 246(4), 427-432.
• Gorman GS, McFarland R, Stewart J, Feeney C, Turnbull DM. Mitochondrial donation: from test tube to clinic. The Lancet 2018, 392(10154), 1191-1192.
• Dodds RM, Davies K, Granic A, Hollingsworth KG, Warren C, Gorman G, Turnbull DM, Sayer AA. Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women. Experimental Gerontology 2018, 113, 80-85.
• Stamp C, Zupanic A, Sachdeva A, Stoll EA, Shanley DP, Mathers JC, Kirkwood TBL, Heer R, Simons BD, Turnbull DM, Greaves LC. Predominant Asymmetrical Stem Cell Fate Outcome Limits the Rate of Niche Succession in Human Colonic Crypts. EBioMedicine 2018, 31, 166-173.
• Su T, Turnbull DM, Greaves LC. Roles of mitochondrial DNA mutations in stem cell ageing. Genes 2018, 9(4), 182.
• Sithamparanathan S, Rocha MC, Parikh JD, Rygiel KA, Falkous G, Grady JP, Hollingsworth KG, Trenell MI, Taylor RW, Turnbull DM, Gorman GS, Corris PA. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study. Pulmonary Circulation 2018, 8(2), 1-5.
• Vincent AE, Rosa HS, Pabis K, Lawless C, Chen C, Grünewald A, Rygiel K, Rocha MC, Reeve AK, Falkous G, Perissi V, White K, Davey T, Petrof BJ, Sayer AA, Cooper C, Deehan D, Taylor RW, Turnbull DM, Picard M. Subcellular origin of mitochondrial DNA deletions in human skeletal muscle. Annals of Neurology 2018, 84(2), 289-301.
• Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR. The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease. Epilepsia Open 2018, 3(1), 103-108.
• Taylor RW, Turnbull DM. Mitochondrial diseases. In: New Treatments in Neurology. London: Butterworth-Heinemann, 2001, pp.283-301.
• Stamp C, Whitehall JC, Smith ALM, Houghton D, Bradshaw C, Stoll EA, Blain AP, Turnbull DM, Greaves LC. Age-associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon. Aging Cell 2021, 20(3), e13321.
• Chen C, McDonald D, Blain A, Sachdeva A, Bone L, Smith ALM, Warren C, Pickett SJ, Hudson G, Filby A, Vincent AE, Turnbull DM, Reeve AK. Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease. npj Parkinson's Disease 2021, 7(1), 39.
• Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. The Lancet Neurology 2021, 20(7), 573-584.
• Gomes TMB, Ng YS, Pickett SJ, Turnbull DM, Vincent AE. Mitochondrial DNA disorders: From pathogenic variants to preventing transmission. Human Molecular Genetics 2021, 30(R2), R245-R253.
• Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression. Annals of Neurology 2022, 91(1), 117-130.
• Lim AZ, Jones DM, Bates MGD, Schaefer AM, O'Sullivan J, Feeney C, Farrugia ME, Bourke JP, Turnbull DM, Gorman GS, McFarland R, Ng YS. Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects. Open Heart 2021, 8(1), e001510.
• Zhang L, Rai P, Miwa S, Draman MS, Rees DA, Haridas AS, Morris DS, Tee AR, Ludgate M, Turnbull DM, Dayan CM. The Role of Mitochondria-Linked Fatty-Acid Uptake-Driven Adipogenesis in Graves Orbitopathy. Endocrinology 2021, 162(12), bqab188.
• Smith ALM, Whitehall JC, Bradshaw C, Gay D, Robertson F, Blain AP, Hudson G, Pyle A, Houghton D, Hunt M, Sampson JN, Stamp C, Mallett G, Amarnath S, Leslie J, Oakley F, Wilson L, Baker A, Russell OM, Johnson R, Richardson CA, Gupta B, McCallum I, McDonald SAC, Kelly S, Mathers JC, Heer R, Taylor RW, Perkins ND, Turnbull DM, Sansom OJ, Greaves LC. Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis. Nature Cancer 2020, 1, 976-989.
• Warren C, McDonald D, Capaldi R, Deehan D, Taylor RW, Filby A, Turnbull DM, Lawless C, Vincent AE. Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry. Scientific Reports 2020, 10(1), 15336.
• Zhang l, Evans A, Von Ruhland C, Shazli Draman M, Edkins S, Vincent A, Berlinguer-Palmini R, Rees D, Haridas A, Morris D, Tee A, Ludgate M, Turnbull D, Karpe F, Dayan C. Distinctive Features of Orbital Adipose Tissue (OAT) in Graves’ Orbitopathy. International Journal of Molecular Sciences 2020, 21(23), 9145.
• Fernandez-de la Torre M, Fiuza-Luces C, Valenzuela PL, Laine-Menendez S, Arenas J, Martin MA, Turnbull DM, Lucia A, Moran M. Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse. Frontiers in Physiology 2020, 11, 594223.
• Feeney C, Gorman G, Stefanetti R, McFarland R, Turnbull D, Harding C, Sachdeva A. Lower urinary tract dysfunction in adult patients with mitochondrial disease. Neurourology and Urodynamics 2020, 39(8), 2253-2263.
• Bury A, Vincent AE, Turnbull DM, Actis P, Hudson G. Mitochondrial Isolation: When size matters. Wellcome Open Research 2020, 5, 226.
• Lujan SA, Longley MJ, Humble MH, Lavender CA, Burkholder A, Blakely EL, Alston CL, Gorman GS, Turnbull DM, McFarland R, Taylor RW, Kunkel TA, Copeland WC. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging. Genome Biology 2020, 21(1), 248.
• Chen C, Turnbull DM, Reeve AK. Mitochondrial Dysfunction in Parkinson's Disease - Cause or Consequence?. Biology 2019, 8(2), 38.