Doug Turnbull

Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Mitochondrial DNA mutations and human disease. Biochim Biophys Acta. 2009 Sep 15. (Epub ahead of print)

Ogundare O, Jumma O, Turnbull DM, Woywodt A. Searching for the needle in the Haystacks.

Lancet. 2009 Sep 5;374(9692):850. No abstract available.

Mahad DJ, Ziabreva I, Campbell G, Laulund F, Murphy JL, Reeve AK, Greaves L, Smith KJ, Turnbull DM. Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells. J Neurosci Methods. 2009 Aug 31. [Epub ahead of print]

Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM. Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why? Hum Mutat. 2009 Aug 30. [Epub ahead of print]

Turnbull HE, Lax NZ, Diodato D, Ansorge O, Turnbull DM. The mitochondrial brain: From mitochondrial genome to neurodegeneration. Biochim Biophys Acta. 2009 Aug 6. [Epub ahead of print]

Greaves LC, Beadle NE, Taylor GA, Commane D, Mathers JC, Khrapko K, Turnbull DM. Quantification of mitochondrial DNA mutation load. Aging Cell. 2009 Sep;8(5):566-72.

O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW. Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.

Muscle Nerve. 2009 Oct;40(4):648-51.

Kirby DM, Rennie KJ, Smulders-Srinivasan TK, Acin-Perez R, Whittington M, Enriquez JA, Trevelyan AJ, Turnbull DM, Lightowlers RN. Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation. Cell Prolif. 2009 Aug;42(4):413-24.

Reeve AK, Krishnan KJ, Taylor G, Elson JL, Bender A, Taylor RW, Morris CM, Turnbull DM. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons. Aging Cell. 2009 Aug;8(4):496-8.

Fellous TG, McDonald SA, Burkert J, Humphries A, Islam S, De-Alwis NM, Gutierrez-Gonzalez L, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, El-Bahrawy M, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Day CP, Wright NA, Alison MR. A methodological approach to tracing cell lineage in human epithelial tissues. Stem Cells. 2009 Jun;27(6):1410-20.

Wright AF, Murphy MP, Turnbull DM. Do organellar genomes function as long-term redox damage sensors? Trends Genet. 2009 Jun;25(6):253-61.

Greaves LC, Mathers JC, Taylor RW, Turnbull DM. Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: link to colon cancer? Proc Natl Acad Sci U S A. 2009 Jun 2;106(22):E57. No abstract available.

Kraytsberg Y, Simon DK, Turnbull DM, Khrapko K. Do mtDNA deletions drive premature aging in mtDNA mutator mice? Aging Cell. 2009 Aug;8(4):502-6.

Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM. Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease. Neurology. 2009 May 5;72(18):e86-90. No abstract available.

Greaves LC, Turnbull DM. Mitochondrial DNA mutations and ageing. Biochim Biophys Acta. 2009 Oct;1790(10):1015-20.

Fellous TG, Islam S, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Taylor G, McDonald SA, Wright NA, Alison MR. Locating the stem cell niche and tracing hepatocyte lineages in human liver. Hepatology. 2009 May;49(5):1655-63.

Mahad DJ, Ziabreva I, Campbell G, Lax N, White K, Hanson PS, Lassmann H, Turnbull DM.

Brain. 2009 May;132(Pt 5):1161-74. Mitochondrial changes within axons in multiple sclerosis.

Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol. 2009 Mar;66(3):399-402.

Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. J Med Genet. 2009 Mar;46(3):209-14.

White KE, Davies VJ, Hogan VE, Piechota MJ, Nichols PP, Turnbull DM, Votruba M. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2567-71.

Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation. Neurology. 2009 Feb 10;72(6):568-9. No abstract available.

McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med. 2009 Feb;265(2):210-28. Review.

Betts-Henderson J, Jaros E, Krishnan KJ, Perry RH, Reeve AK, Schaefer AM, Taylor RW, Turnbull DM. Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathol Appl Neurobiol. 2009 Feb;35(1):120-4. No abstract available.

Gutierrez-Gonzalez L, Deheragoda M, Elia G, Leedham SJ, Shankar A, Imber C, Jankowski JA, Turnbull DM, Novelli M, Wright NA, McDonald SA. Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations. J Pathol. 2009 Mar;217(4):489-96.

Whittaker RG, Turnbull DM. A diagnostic tattoo. Clin Genet. 2009 Jan;75(1):37-8.

Stewart JD, Hudson G, Yu-Wai-Man P, Blakeley EL, He L, Horvath R, Maddison P, Wright A, Griffiths PG, Turnbull DM, Taylor RW, Chinnery PF. OPA1 in multiple mitochondrial DNA deletion disorders. Neurology. 2008 Nov 25;71(22):1829-31. No abstract available.

Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain. 2008 Nov;131(Pt 11):2832-40.

Kennelly MM, Baker MR, Birchall D, Hanley JP, Turnbull DM, Loughney AD. Hyperemesis gravidarum and first trimester sagittal sinus thrombosis. J Obstet Gynaecol. 2008 May;28(4):453-4. No abstract available.

Bender A, Schwarzkopf RM, McMillan A, Krishnan KJ, Rieder G, Neumann M, Elstner M, Turnbull DM, Klopstock T. Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. J Neurol. 2008 Aug;255(8):1231-5.

Moriarty KT, McFarland R, Whittaker R, Burch J, Turnbull HE, Taylor RW, Turnbull DM. Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation. J Obstet Gynaecol. 2008 Apr;28(3):349. No abstract available.

Cree LM, Patel SK, Pyle A, Lynn S, Turnbull DM, Chinnery PF, Walker M. Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets. Diabetologia. 2008 Aug;51(8):
1440-3.

Reeve AK, Krishnan KJ, Turnbull DM. Age related mitochondrial degenerative disorders in humans. Biotechnol J. 2008 Jun;3(6):750-6. Review.

Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord. 2008 Jul;18(7):557-60.

Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Res. 2008 May;36(9):3065-74.

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Eur J Hum Genet. 2008 Oct;16(10):1265-74.

Betts J, Barron MJ, Needham SJ, Schaefer AM, Taylor RW, Turnbull DM. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Neurology. 2008 Apr 8;70(15):1290-2. No abstract available.

Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. What causes mitochondrial DNA deletions in human cells? Nat Genet. 2008 Mar;40(3):275-9. Review.

Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med. 2008 Apr;25(4):383-99. Review.

McDonald SA, Greaves LC, Gutierrez-Gonzalez L, Rodriguez-Justo M, Deheragoda M, Leedham SJ, Taylor RW, Lee CY, Preston SL, Lovell M, Hunt T, Elia G, Oukrif D, Harrison R, Novelli MR, Mitchell I, Stoker DL, Turnbull DM, Jankowski JA, Wright NA. Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. Gastroenterology. 2008 Feb;134(2):500-10.

Reeve AK, Krishnan KJ, Elson JL, Morris CM, Bender A, Lightowlers RN, Turnbull DM. Nature of mitochondrial DNA deletions in substantia nigra neurons. Am J Hum Genet. 2008 Jan;82(1):228-35.

Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37.

Brown AE, Elstner M, Yeaman SJ, Turnbull DM, Walker M. Does impaired mitochondrial function affect insulin signaling and action in cultured uman skeletal muscle cells? Am J Physiol Endocrinol Metab. 2008 Jan;294(1):E97-102.

Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Prevalence of mitochondrial DNA disease in adults. Ann Neurol. 2008 Jan;63(1):35-9.

McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KM, Taylor RW. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy. Neuromuscul Disord. 2008 Jan;18(1):63-7.