Staff Profile

Qualifications

• B.Sc. Biological Sciences University of East Anglia (1983)
• Ph.D in Microbial Genetics, JCSMR Australian National University (1988)

Previous Positions

• Director, Institute for Cell and Molecular Biosciences, Newcastle University  (2011 - 2019)
• Professor of Molecular Neuroscience, Newcastle University (2000- )
  
• Lister Institute Research Fellow, Newcastle University (1991-1996)
  
• Postdoctoral Research Fellow, Institute of Molecular Biology University of Oregon, Eugene Oregon USA (1988-1990)

Prizes and Awards

• Lister Institute Research Fellowship (1991-1996)
• Henry Wellcome Commemorative Award for Innovative Science (1997) 
• Erskine Fellowship (New Zealand, 1998)
• Cenci-Bolognetti Visiting Professorship (Rome, 2011) 

Research Interests

My main research interest is mitochondriology in health and disease. This broad interest encompasses the spectrum of research covered by our Wellcome Centre for Mitochondrial Research. Currently, I have projects that focus on the molecular aetiology of mitochondrial disease, treatment regimes for these disorders, mitochondrial genetics and a large concern in mitochondrial gene expression in man. Most recently, my colleagues and I have been establishing methods to visualise nascent mitochondrial protein synthesis using super resolution nanoscopy.

Further details 

CURRENT VACANCIES IN THE LIGHTOWLERS LABORATORY

 We are currently advertising for Ph.D students, postdoctoral students and scientific officers in the area of mitochondrial gene expression and its role in disease. If anyone has an interest in this area, please contact me by email ([email protected]) or by 'phone for informal discussions (01912228028) 

•  Programme Leader, MRes in Neuroscience

                Module leader, Scientific Basis of Neurological Disease 

• Supervisor/co-supervisor currently for 9 Ph.D students 

• Bruni F, Proctor-Kent Y, Lightowlers RN, Chrzanowska-Lightowlers ZN. Messenger RNA delivery to mitoribosomes: hints from a bacterial toxin. The FEBS Journal 2021, 288(2), 437-451.
• Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Mitochondrial Diseases: Hope for the Future. Cell 2020, 181(1), 168-188.
• Chrzanowska-Lightowlers ZMA, Lightowlers RN. Redecorating the Mitochondrial Inner Membrane: A Treatment for mtDNA Disorders. Molecular Therapy 2020, 28(8), 1749-1751.
• Ayyub SA, Gao F, Lightowlers RN, Chrzanowska-Lightowlers ZM. Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria?. Journal of Cell Science 2020, 133(1), jcs231811.
• Chrzanowska-Lightowlers ZM, Lightowlers RN. How much does a disrupted mitochondrial network influence neuronal dysfunction?. EMBO Molecular Medicine 2019, 11(1), Epub ahead of print.
• Li J, Dang M, MartinezLopez N, Jowsey PA, Huang D, Lightowlers RN, Gao F, Huang JY. M2I‑1 disrupts the in vivo interaction between CDC20 and MAD2 and increases the sensitivities of cancer cell lines to anti‑mitotic drugs via MCL‑1s. Cell Division 2019, 14(5).
• Al-Faresi RAZ, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Mammalian mitochondrial translation - revealing consequences of divergent evolution. Biochemical Society Transactions 2019, 47(5), 1429-1436.
• Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Taylor RW. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Molecular Medicine 2018, 10(9), e9060.
• Rai PK, Craven L, Hoogewijs K, Russell OM, Lightowlers RN. Advances in methods for reducing mitochondrial DNA disease by replacing or manipulating the mitochondrial genome. Essays in Biochemistry 2018, 62(3), 455-465.
• Bradley P, Waddington CL, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN. Defective mitochondrial protease LonP1 can cause classical mitochondrial disease. Human Molecular Genetics 2018, 27(10), 1743-1753.
• 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.
• Hoogewijs K, James AM, Murphy MP, Lightowlers RN. Signed-For Delivery in the Mitochondrial Matrix: Confirming Uptake into Mitochondria. Small Methods 2018, 2(3), 1700297.
• Gao F, Wesolowska M, Agami R, Rooijers K, Loayza-Puch F, Lawless C, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Using mitoribosomal profiling to investigate human mitochondrial translation [version 2; referees: 2 approved]. Wellcome Open Research 2018, 2, 116.
• Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics 2017, 101(4), 525-538.
• Hoogewijs K, James AM, Smith RAJ, Abendroth F, Gait MJ, Murphy MP, Lightowlers RN. ClickIn: A flexible protocol for quantifying mitochondrial uptake of nucleobase derivatives. Interface Focus 2017, 7(2).
• Bruni F, Lightowlers RN, Chrzanowska-Lightowlers ZM. Human mitochondrial nucleases. The FEBS Journal 2017, 284(12), 1767-1777.
• Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZMA, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease 2017, 40(1), 121-130.
• Rozanska A, Richter-Dennerlein R, Rorbach J, Gao F, Lewis RJ, Chrzanowska-Lightowlers ZM, Lightowlers RN. The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome. Biochemical Journal 2017, 474(13), 2145-2158.
• Zaganelli S, Rebelo-Guiomar P, Maundrell K, Rozanska A, Pierredon S, Powell CA, Jourdain AA, Hulo N, Lightowlers RN, Chrzanowska-Lightowlers ZM, Minczuk M, Martinou J-C. The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules. Journal of Biological Chemistry 2017, 292(11), 4519-4532.
• Gao F, Wesolowska M, Agami R, Rooijers K, Loayza-Puch F, Lawless C, Lightowlers RN, Chrzanowska-Lightowlers ZM. Using mitoribosomal profiling to investigate human mitochondrial translation. Wellcome Open Research 2017, 2, 116.
• Russell OM, Lightowlers RN, Turnbull DM. Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia. Molecular Cell 2016, 62(1), 5-6.
• Hoogewijs K, James AM, Smith RAJ, Gait MJ, Murphy MP, Lightowlers RN. Assessing the Delivery of Molecules to the Mitochondrial Matrix Using Click Chemistry. ChemBioChem 2016, 17(14), 1312-1316.
• Alfonsa H, Lakey JH, Lightowlers RN, Trevelyan AJ. Cl-out is a novel cooperative optogenetic tool for extruding chloride from neurons. Nature Communications 2016, 7, 13495.
• 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.
• Rorbach J, Gao F, Powell CA, D'Souza A, Lightowlers RN, Minczuk M, Chrzanowska-Lightowlers ZM. Human mitochondrial ribosomes can switch their structural RNA composition. Proceedings of the National Academy of Sciences 2016, 113(43), 12198-12201.
• Spahr H, Rozanska A, Li XP, Atanassov I, Lightowlers RN, Chrzanowska-Lightowlers ZMA, Rackham O, Larsson NG. SLIRP stabilizes LRPPRC via an RRM-PPR protein interface. Nucleic Acids Research 2016, 44(14), 6868-6882.
• Mai N, Chrzanowska-Lightowlers ZMA, Lightowlers RN. The process of mammalian mitochondrial protein synthesis. Cell and Tissue Research 2016, 367(1), 5-20.
• Olahova M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AAM, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZMA, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 2015, 138(12), 3503-3519.
• Olahova M, Haack TB, Alston CL, Houghton JAC, He L, Morris AAM, Brown GK, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Prokisch H, Taylor RW. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. European Journal of Human Genetics 2015, 23(7), 935-939.
• Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JAL, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM. Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. Journal of Neuromuscular Diseases 2015, 2(4), 409-419.
• Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain?. Science 2015, 349(6255), 1494-1499.
• Rai PK, Russell OM, Lightowlers RN, Turnbull DM. Potential compounds for the treatment of mitochondrial disease. British Medical Bulletin 2015, 116(1), 5-18.
• Chrzanowska-Lightowlers ZM, Lightowlers RN. Response to "Ribosome Rescue and Translation Termination at Non-standard Stop Codons by ICT1 in Mammalian Mitochondria". PLoS Genetics 2015, 11(6), e1005227.
• Elson JL, Smith PM, Greaves LC, Lightowlers RN, Chrzanowska-Lightowlers ZMA, Taylor RW, Vila-Sanjurjo A. The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease. Mitochondrion 2015, 25, 17-27.
• Wilson WC, Hornig-Do HT, Bruni F, Chang JC, Jourdain AA, Martinou JC, Falkenberg M, Spåhr H, Larsson NG, Lewis RJ, Hewitt L, Baslé A, Cross HE, Tong L, Lebel RR, Crosby AH, Chrzanowska-Lightowlers ZMA, Lightowlers RN. A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. Human Molecular Genetics 2014, 23(23), 6345-6355.
• Weber-Lotfi F, Mileshina DV, Ibrahim N, Koulintchenko MV, D'Souza GGM, Saxena V, Konstantinov YM, Lightowlers RN, Dietrich A. DNA import competence and mitochondrial genetics. Biopolymers and Cell 2014, 30(1), 71-73.
• Hornig-Do H-T, Montanari A, Rozanska A, Tuppen HA, Almalki AA, Abg-Kamaludin DP, Frontali L, Francisci S, Lightowlers RN, Chrzanowska-Lightowlers ZM. Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations. EMBO Molecular Medicine 2014, 6(2), 183-193.
• Lightowlers RN, Rozanska A, Chrzanowska-Lightowlers ZM. Mitochondrial protein synthesis: Figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation. FEBS Letters 2014, 588(15), 2496-2503.
• Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He LP, Reza M, Oliveira JMA, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZMA. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease 2014, 1842(1), 56-64.
• Wesolowska MT, Richter-Dennerlein R, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Overcoming stalled translation in human mitochondria. Frontiers in Microbiology 2014, 5, 374.
• Lightowlers RN, Chrzanowska-Lightowlers ZMA. Salvaging hope: Is increasing NAD⁺ a key to treating mitochondrial myopathy?. EMBO Molecular Medicine 2014, 6(6), 705-707.
• Meagher M, Lightowlers RN. The role of TDP1 and APTX in mitochondrial DNA repair. Biochimie 2014, 100, 121-124.
• Wessels HJCT, Vogel RO, Lightowlers RN, Spelbrink JN, Rodenburg RJ, van den Heuvel LP, van Gool AJ, Gloerich J, Smeitink JAM, Nijtmans LG. Analysis of 953 Human Proteins from a Mitochondrial HEK293 Fraction by Complexome Profiling. PLoS ONE 2013, 8(7), e68340.
• Jourdain AA, Koppen M, Wydro M, Rodley CD, Lightowlers RN, Chrzanowska-Lightowlers ZM, Martinou JC. GRSF1 Regulates RNA Processing in Mitochondrial RNA Granules. Cell Metabolism 2013, 17(3), 399-410.
• Lightowlers RN, Chrzanowska-Lightowlers ZM. Human pentatricopeptide proteins: Only a few and what do they do?. RNA Biology 2013, 10(9), 1433-1438.
• Bruni F, Gramegna P, Oliveira JM, Lightowlers RN, Chrzanowska-Lightowlers ZMA. REXO2 is an oligoribonuclease active in human mitochondria. PLoS One 2013, 8(5), e64670.
• Smith PM, Elson JL, Greaves LC, Wortmann SB, Rodenburg RJT, Lightowlers RN, Chrzanowska-Lightowlers ZMA, Taylor RW, Vila-Sanjurjo A. The role of the mitochondrial ribosome in human disease: Searching for mutations in 12S mitochondrial rRNA with high disruptive potential. Human Molecular Genetics 2013, 23(4), 949-969.
• Wanschers BFJ, Szklarczyk R, Pajak A, van den Brand MAM, Gloerich J, Rodenburg RJT, Lightowlers RN, Nijtmans LG, Huynen MA. C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation. Nucleic Acids Research 2012, 40(9), 4040-4051.
• Lightowlers RN, Chrzanowska-Lightowlers ZMA. Exploring our origins-the importance of OriL in mtDNA maintenance and replication. EMBO Reports 2012, 13(12), 1038-1039.
• Boczonadi V, Smith PM, Sitarz K, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Chinnery PF, Horvath R. Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Bruni F, Gramegna P, Lightowlers RN, Chrzanowska-Lightowlers ZMA. The mystery of mitochondrial RNases. Biochemical Society Transactions 2012, 40(4), 865-869.
• Bruni F, Lightowlers RN. Designing an Organellar Postal Service: Delivery of Macromolecules to Mitochondria in Intact Cells. Molecular Therapy 2011, 19(8), 1404-1405.
• Ibrahim N, Handa H, Cosset A, Koulintchenko M, Konstantinov Y, Lightowlers RN, Dietrich A, Weber-Lotfi F. DNA Delivery to Mitochondria: Sequence Specificity and Energy Enhancement. Pharmaceutical Research 2011, 28(11), 2871-2882.
• Mileshina D, Ibrahim N, Boesch P, Lightowlers RN, Dietrich A, Weber-Lotfi F. Mitochondrial transfection for studying organellar DNA repair, genome maintenance and aging. In: Mechanisms of Ageing and Development: 3rd International Genome Dynamics in Neuroscience Conference on DNA Repair and Neurological Disease. 2011, Brighton, UK: Elsevier Ireland Ltd.
• Lightowlers RN. Mitochondrial transformation: time for concerted action. EMBO Reports 2011, 12(6), 480-481.
• Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S. NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell 2011, 22(1), 1-11.
• Kemp JP, Smith PM, Pyle A, Neeve VCM, Tuppen HAL, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 2011, 134(1), 183-195.
• Chrzanowska-Lightowlers ZMA, Pajak A, Lightowlers RN. Termination of Protein Synthesis in Mammalian Mitochondria. Journal of Biological Chemistry 2011, 286(40), 34479-34485.
• Richter R, Rorbach J, Pajak A, Smith PM, Wessels HJ, Huynen MA, Smeitink JA, Lightowlers RN, Chrzanowska-Lightowlers ZM. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. EMBO Journal 2010, 29(6), 1116-1125.
• Oliveira JMA, Lightowlers RN. Could successful (mitochondrial) networking help prevent Huntington's disease?. EMBO Molecular Medicine 2010, 2(12), 487-489.
• Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZMA, Cross HE, Lightowlers RN. Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia. American Journal of Human Genetics 2010, 87(5), 655-660.
• Dennerlein S, Rozanska A, Wydro M, Chrzanowska-Lightowlers ZMA, Lightowlers RN. Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit. Biochemical Journal (Cell) 2010, 430(3), 551-558.
• Temperley R, Richter R, Dennerlein S, Lightowlers RN, Chrzanowska-Lightowlers ZM. Hungry Codons Promote Frameshifting in Human Mitochondrial Ribosomes. Science 2010, 327(5963), 301-301.
• Abramov AY, Smulders-Srinivasan TK, Kirby DM, Acin-Perez R, Enriquez JA, Lightowlers RN, Duchen MR, Turnbull DM. Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain 2010, 133(3), 797-807.
• Boesch P, Ibrahim N, Dietrich A, Lightowlers RN. Membrane association of mitochondrial DNA facilities base excision repair in mammalian mitochondria. Nucleic Acids Research 2010, 38(5), 1478-1488.
• Trevelyan AJ, Kirby DM, Smulders-Srinivasan TK, Nooteboom M, Acin-Perez R, Enriquez JA, Whittington MA, Lightowlers RN, Turnbull DM. Mitochondrial DNA mutations affect calcium handling in differentiated neurons. Brain 2010, 133(3), 787-796.
• Wang G, Chen HW, Oktay Y, Zhang J, Allen EL, Smith GM, Fan KC, Hong JS, French SW, McCaffery JM, Lightowlers RN, Morse HC, Koehler CM, Teitell MA. PNPASE Regulates RNA Import into Mitochondria. Cell 2010, 142(3), 456-467.
• Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010, 465(7294), 82-85.
• Wydro M, Bobrowicz A, Temperley RJ, Lightowlers RN, Chrzanowska-Lightowlers ZM. Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibition. Nucleic Acids Research 2010, 38(11), 3732-3742.
• Lightowlers RN, Chrzanowska-Lightowlers ZMA. Terminating human mitochondrial protein synthesis : a shift in our thinking. RNA Biology 2010, 7(3), 282-286.
• 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 Proliferation 2009, 42(4), 413-424.
• Horvath R, Kemp JP, Tuppen HAL, Hudson G, Oldfors A, Marie SKN, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Hirano M, Lochmuller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain 2009, 132(11), 3165-3174.
• McDonald BM, Wydro MM, Lightowlers RN, Lakey JH. Probing the orientation of yeast VDAC1 in vivo. FEBS Letters 2009, 583(4), 739-742.
• Reeve AK, Krishnan KJ, Elson JL, Morris CM, Bender A, Lightowlers RN, Turnbull DM. Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons. American Journal of Human Genetics 2008, 82(1), 228-235.
• Rorbach J, Yusoff A, Tuppen H, Abg-Kamaludin D, Chrzanowska-Lightowlers Z, Taylor R, Turnbull D, Mcfarland R, Lightowlers R. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Research 2008, 36(9), 3065-3074.
• Bobrowicz AJ, Lightowlers RN, Chrzanowska-Lightowlers Z. Polyadenylation and degradation of mRNA in mammalian mitochondria: A missing link?. Biochemical Society Transactions 2008, 36(3), 517-519.
• Lightowlers RN, Chrzanowska-Lightowlers ZMA. PPR (pentatricopeptide repeat) proteins in mammals: important aids to mitochondrial gene expression. Biochemical Journal 2008, 416(1), e5-e6.
• Kyriakouli D, Boesch P, Taylor R, Lightowlers R. Progress and prospects: Gene therapy for mitochondrial DNA disease. Gene Therapy 2008, 15(14), 1017-1023.
• Rorbach J, Richter R, Wessels HJ, Wydro M, Pekalski M, Farhoud M, Kuhl I, Gaisne M, Bonnefoy N, Smeitink JA, Lightowlers RN, Chrzanowska-Lightowlers ZMA. The human mitochondrial ribosome recycling factor is essential for cell viability. Nucleic Acids Research 2008, 36(18), 5787-5799.
• 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?. Nature Genetics 2008, 40(3), 275-279.
• Leontiou C, Watters GP, Gilroy KL, Heslop P, Cowell IG, Craig K, Lightowlers RN, Lakey JH, Austin CA. Differential selection of acridine resistance mutations in human DNA topoisomerase II beta is dependent on the acridine structure. Molecular Pharmacology 2007, 71(4), 1006-1014.
• Rorbach J, Soleimanpour-Lichaei R, Lightowlers RN, Chrzanowska-Lightowlers ZMA. How do mammalian mitochondria synthesize proteins?. In: Biochemical Society Transactions: Focus Topics at Life Sciences. 2007, Glasgow, UK: Portland Press Ltd.
• Soleimanpour-Lichaei HR, Kuhl I, Gaisne M, Passos JF, Wydro M, Rorbach J, Temperley R, Bonnefoy N, Tate W, Lightowlers R, Chrzanowska-Lightowlers Z. mtRF1a Is a Human Mitochondrial Translation Release Factor Decoding the Major Termination Codons UAA and UAG. Molecular Cell 2007, 27(5), 745-757.
• Elson JL, Lightowlers RN. Mitochondrial DNA clonality in the dock: can surveillance swing the case?. Trends in Genetics 2006, 22(11), 603-607.
• Maniura-Weber K, Helm M, Engemann K, Eckertz S, Mollers M, Schauen M, Hayrapetyan A, von Kleist-Retzow J-C, Lightowlers RN, Bindoff LA, Wiesner RJ. Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene. Nucleic Acids Research 2006, 34(22), 6404-6415.
• Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM. Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathology and Applied Neurobiology 2006, 32(4), 359-373.
• Leontiou C, Lakey JH, Lightowlers R, Turnbull RM, Austin CA. Mutation P732L in human DNA topoisomerase II abolishes DNA cleavage in the presence of calcium and confers drug resistance. Molecular Pharmacology 2006, 69(1), 130-139.
• Koulintchenko M, Temperley RJ, Mason PA, Dietrich A, Lightowlers RN. Natural competence of mammalian mitochondria allows the molecular investigation of mitochondrial gene expression. Human Molecular Genetics 2006, 15(1), 143-154.
• Keresztessy Z, Csosz E, Harsfalvi J, Csomos K, Gray J, Lightowlers RN, Lakey JH, Balajthy Z, Fesus L. Phage display selection of efficient glutamine-donor substrate peptides for transglutaminase 2. Protein Science 2006, 15(11), 2466-2480.
• Pye D, Kyriakouli DS, Taylor GA, Johnson R, Elstner M, Meunier B, Chrzanowska-Lightowlers ZMA, Taylor RW, Turnbull DM, Lightowlers RN. Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. Nucleic Acids Research 2006, 34(13), e95.
• Brown D, Herbert M, Lamb V, Chinnery PF, Taylor R, Lightowlers R, Craven L, Cree L, Gardner JL, Turnbull DM. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 2006, 368(9529), 87-89.
• Stocksley MA, Awad SS, Young C, Lightowlers RN, Brenner H-R, Slater CR. Accumulation of NaV1 mRNAs at differentiating postsynaptic sites in rat soleus muscles. Molecular and Cellular Neuroscience 2005, 28(4), 694-702.
• Seal R, Temperley RJ, Wilusz J, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Serum-deprivation stimulates cap-binding by PARN at the expense of eIF4E, consistent with the observed decrease in mRNA stability. Nucleic Acids Research 2005, 33(1), 376-387.
• Chrzanowska-Lightowlers ZMA, Temperley RJ, Smith PM, Seneca SH, Lightowlers RN. Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons. Biochemical Journal 2004, 377(3), 725-731.
• Pye D, Watt DJ, Walker C, Lightowlers RN, Turnbull DM. Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease. Neuromuscular Disorders 2004, 14(5), 329-336.
• Gagliardi D, Stepien PP, Temperley RJ, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Messenger RNA stability in mitochondria: Different means to an end. Trends in Genetics 2004, 20(6), 260-267.
• Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in identical twins. Journal of Medical Genetics 2004, 41(2), e19.
• Kolesnikova OA, Entelis NS, Jacquin-Becker C, Goltzene F, Chrzanowska-Lightowlers ZM, Lightowlers RN, Martin RP, Tarassov I. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Human Molecular Genetics 2004, 13(20), 2519-2534.
• McFarland R, Taylor RW, Elson JL, Lightowlers RN, Turnbull DM, Howell N, Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Guan M-X, Liu L-L, Wong L-JC. Proving pathogenicity: When evolution is not enough. American Journal of Medical Genetics 2004, 131(1), 107-110.
• Taylor RW, Giordano C, Davidson MM, D'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. Journal of the American College of Cardiology 2003, 41(10), 1786-1796.
• McGregor A, Smith PM, Ross GF, Taylor RW, Turnbull DM, Lightowlers RN. Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired. Biochimica et Biophysica Acta - Gene Structure and Expression 2003, 1629(1-3), 73-83.
• Bigger B, Taylor RW, Turnbull DM, Lightowlers RN. Gene therapy for mitochondrial DNA disorders. In: Holt, I.J, ed. Genetics of Mitochondrial Diseases. Oxford, UK: Oxford University Press, 2003, pp.327-344.
• Temperley RJ, Seneca SH, Tonska K, Bartnik E, Bindoff LA, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria. Human Molecular Genetics 2003, 12(18), 2341-2348.
• Leontiou C, Lightowlers R, Lakey JH, Austin CA. Kinetic analysis of human topoisomerase IIα and β DNA binding by surface plasmon resonance. FEBS Letters 2003, 554(1-2), 206-210.
• Mason PA, Matheson EC, Hall AG, Lightowlers RN. Mismatch repair activity in mammalian mitochondria. Nucleic Acids Research 2003, 31(3), 1052-1058.
• James AM, Blaikie FH, Smith RAJ, Lightowlers RN, Smith PM, Murphy MP. Specific targeting of a DNA-alkylating reagent to mitochondria: Synthesis and characterization of [4-((11aS)-7-methoxy-1,2,3,11a-tetrahydro-5H-pyrrolo[2,1-c][1,4] benzodiazepin-5-on-8-oxy)butyl]-triphenylphosphonium iodide. European Journal of Biochemistry 2003, 270(13), 2827-2836.
• Ross GF, Smith PM, McGregor A, Turnbull DM, Lightowlers RN. Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking. Bioconjugate Chemistry 2003, 14(5), 962-966.
• Mason PA, Lightowlers RN. Why do mammalian mitochondria possess a mismatch repair activity?. FEBS Letters 2003, 554(1-2), 6-9.
• Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N. A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 501(1-2), 19-28.
• Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N. A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 501(1-2), 19-28.
• Turnbull DM, Lightowlers RN. A roundabout route to gene therapy. Nature Genetics 2002, 30(4), 345-346.
• McFarland R, Taylor RW, Chinnery PF, Lightowlers RN, Turnball DM. Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• McFarland R, Clark KM, Morris AAM, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nature Genetics 2002, 30(2), 145-146.
• Turnbull DM, Brown DT, Lightowlers RN. Novel therapies for mitochondrial myopathies. In: Neuromuscular Disorders: 7th International Congress of the World Muscle Society. 2002, Rotterdam, Netherlands: Elsevier Ltd.
• McGregor A, Temperley R, Chrzanowska-Lightowlers Z, Lightowlers NR. Absence of expression from RNA internalised into electroporated mammalian mitochondria. Molecular Genetics and Genomics 2001, 265(4), 721-729.
• Taylor RW, Wardell TM, Smith PM, Muratovska A, Murphy MP, Turnbull DM, Lightowlers RN. An antigenomic strategy for treating heteroplasmic mtDNA disorders. Advanced Drug Delivery Reviews 2001, 49(1-2), 121-125.
• Elson JL, Andrews RM, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Analysis of European mtDNAs for recombination. American Journal of Human Genetics 2001, 68(1), 145-153.
• Turnbull DM, Lightowlers RN, Taylor RW. Current perspectives in the treatment of mitochondrial DNA diseases. Functional Neurology 2001, 16(4), 89-96.
• Chrzanowska-Lightowlers ZMA, Lightowlers RN. Fending off decay: A combinatorial approach in intact cells for identifying mRNA stability elements. RNA 2001, 7(3), 435-444.
• Lightowlers RN, Selwood SP, Chrzanowska-Lightowlers ZMA. Genetic disease: Non-Mendelian. London, UK: Wiley-Blackwell, 2001. Available at: http://dx.doi.org/10.1038/npg.els.0001462.
• Lightowlers RN, Lill R. High-level mitochondriology at high altitude - Workshop on mitochondrial (dys-)function. EMBO Reports 2001, 2(12), 1074-1077.
• Kolesnikova O, Entelis N, Chrzanowska-Lightowlers Z, Lightowlers R, Martin R, Tarassov I. Import of yeast tRNA derivatives into human mitochondria in vivo. In: YEAST. 2001.
• Selwood SP, McGregor A, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Inhibition of mitochondrial protein synthesis promotes autonomous regulation of mtDNA expression and generation of a new mitochondrial RNA species. FEBS Letters 2001, 494(3), 186-191.
• Taylor RW, Wardell TM, Connolly BA, Turnbull DM, Lightowlers RN. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates. Nucleic Acids Research 2001, 29(16), 3404-3412.
• Turnbull DM, Lightowlers RN. Might mammalian mitochondria merge?. Nature Medicine 2001, 7(8), 895-896.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Science 2001, 21(3), 909-912.
• Awad SS, Lightowlers RN, Young C, Chrzanowska-Lightowlers ZMA, Lomo T, Slater CR. Sodium channel mRNAs at the neuromuscular junction: Distinct patterns of accumulation and effects of muscle activity. Journal of Neuroscience 2001, 21(21), 8456-8463.
• Muratovska A, Lightowlers RN, Taylor RW, Wilce JA, Murphy MP. Targeting large molecules to mitochondria. Advanced Drug Delivery Reviews 2001, 49(1-2), 189-198.
• Muratovska A, Lightowlers RN, Taylor RW, Turnbull DM, Smith RAJ, Wilce JA, Martin SW, Murphy MP. Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: Implications for mitochondrial DNA replication, expression and disease. Nucleic Acids Research 2001, 29(9), 1852-1863.
• Morris AAM, Lightowlers RN. Can paternal mtDNA be inherited?. Lancet 2000, 355(9212), 1290-1291.
• Selwood SP, Chrzanowska-Lightowlers ZMA, Lightowlers RN. Does the mitochondrial transcription-termination complex play an essential role in controlling differential transcription of mitochondrial DNA?. In: Colloquium on Organisms, Organs, Cells and Organelles - In Vivo and In Vitro Experimental Systems. 2000, University College Cork, Ireland: Biochemical Society Transactions, Portland Press.
• Awad SS, Stocksley MA, Young C, Lightowlers RN, Slater CR. Expression of muscle sodium channel alpha subunit mRNAs at developing regenerating rat neuromuscular junctions [abstract]. European Journal of Neuroscience 2000, 12(supplement), 278-278.
• Taylor RW, McGregor A, Lightowlers RN, Turnbull DM. Gene therapy for mitochondrial DNA defects. In: Ebadi, MS, ed. Mitochondrial Ubiquinone (Coenzyme Q10): biochemical, functional, medical and therapeutic aspects in human health and diseases. Prominent Press, Arizona, 2000.
• Nagy E, Henics T, Eckert M, Miseta A, Lightowlers RN, Kellermayer M. Identification of the NAD(+)-binding fold of glyceraldehyde-3-phosphate dehydrogenase as a novel RNA-Binding domain. Biochemical and Biophysical Research Communications 2000, 275(2), 253-260.
• Nagy E, Henics T, Eckert M, Miseta A, Lightowlers RN, Kellermayer M. Identification of the NAD+-binding fold of glyceraldehyde-3-phosphate dehydrogenase as a novel RNA-binding domain. Biochemical and Biophysical Research Communications 2000, 275(2), 253-260.
• Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. In-vitro genetic modification of mitochondrial function. Human Reproduction 2000, 15(2), 79-85.
• Morris AAM, Lightowlers RN. Mitochondrial DNA recombination. Lancet 2000, 356(9233), 941.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Sciences 2000, 21(9), S909-S912.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid and delivery to human mitochondria. Gene Therapy 2000, 7(9), 813.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria (vol 6, pg 1919, 1999) Erratum. Gene Therapy 2000, 7(9), 813-813.
• Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl H-HM, Turnbull DM, Lightowlers RN, Howell N. The inheritance of mitochondrial DNA heteroplasmy: Random drift, selection or both?. Trends in Genetics 2000, 16(11), 500-505.
• Bidooki SK, Bindoff LA, Johnson MA, Lightowlers RN. A new mtDNA point mutation on tRNA Ser(UCN) in a cardiomyopathic patient. In: FASEB Journal. 1999, Federation of American Societies for Experimental Biology.
• Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZMA, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. American Journal of Human Genetics 1999, 64(5), 1330-1339.
• Clarke K, Taylor R, Johnson MA, Chinnery P, Chrzanowska-Lightowlers ZMA, Andrews R, Nelson I, Wood N, Lamont P, Hanna M, Lightowlers RN, Turnbull DM. An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy. American Journal of Human Genetics 1999, 64(5), 1330-1339.
• Chrzanowska-Lightowlers ZM, Temperley RJ, McGregor A, Bindoff LA, Lightowlers RN. Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. Gene 1999, 230(2), 241-247.
• Awad S, Buckel A, Lightowlers RN, Slater CR. Effect of innervation on sodium channel mRNA distribution at the neuromuscular junction. In: British Neuroscience Assosciation Abstracts: 15th National Meeting. 1999, Liverpool, UK: British Neuroscience Association.
• Lightowlers RN, Jacobs HT, Kajander OA. Mitochondrial DNA - All things bad?. Trends in Genetics 1999, 15(3), 91-93.
• Chinnery PF, Zwijnenburg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Nonrandom tissue distribution of mutant mtDNA. American Journal of Medical Genetics 1999, 85(5), 498-501.
• Chinnery PF, Zwijnenburg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Non-random tissue distribution of mutant mtDNA. American Journal of Medical Genetics. Part A 1999, 85(5), 498-501.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria. Gene Therapy 1999, 6(12), 1919-1928.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria. Gene Therapy 1999, 6(12), 1919-1928.
• Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the cambridge reference sequence for human mitochondrial DNA [5]. Nature Genetics 1999, 23(2), 147-.
• D. M. Turnbull,R. N. Lightowlers. An essential guide to mtDNA maintenance. Nat Genet 1998, 18(3), 199-200.
• D. M. Turnbull and R. N. Lightowlers. An essential guide to mtDNA maintenance. Nature Genetics 1998, 18, 199-200.
• P. F. Chinnery, N. Howell, R. N. Lightowlers and D. M. Turnbull. Genetic counselling and prenatal diagnosis for mtDNA disease. American Journal of Human Genetics 1998, 63, 1908-1910.
• Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998, 121(10), 1889-1894.
• E. J. Brierley,M. A. Johnson,R. N. Lightowlers,O. F. James,D. M. Turnbull. Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Ann Neurol 1998, 43(2), 217-23.
• E. J. Brierley, M. A. Johnson, R. N. Lightowlers, O. F. W. James and D. M. Turnbull. Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle. Annals of Neurology 1998, 43, 217-223.
• K. M. Clark, D. J. Watt, R. N. Lightowlers, M. A. Johnson, J. B. Relvas, J. W. Taanman and D. M. Turnbull. SCID mice containing muscle with human mitochondrial DNA mutations - An animal model for mitochondrial DNA defects. Journal of Clinical Investigation 1998, 102, 2090-2095.
• K. M. Clark,D. J. Watt,R. N. Lightowlers,M. A. Johnson,J. B. Relvas,J. W. Taanman,D. M. Turnbull. SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects. J Clin Invest 1998, 102(12), 2090-5.
• P. F. Chinnery, M. A. Johnson, R. W. Taylor, R. N. Lightowlers and D. M. Turnbull. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Annals of Neurology 1997, 41, 408-410.
• Clark K.M., Bindoff L.A., Lightowlers R.N., Andrews R.M., Griffiths P.G., Johnson M.A., and Turnbull D.M. Correction of a mitochondrial DNA defect in human skeletal muscle. Nature Genet 1997, 15.
• R. F. Taylor, P. F. Chinnery, R. N. Lightowlers and D. M. Turnbull. Gene therapy for mitochondrial DNA diseases. Neurology 1997, 48, 4085-4085.
• P. F. Chinnery, N. Howell, R. N. Lightowlers and D. M. Turnbull. Genetic counselling for patients with mitochondrial DNA defects - Predicting the outcome of pregnancy based on maternal mutant load. Neurology 1997, 48, 49002-49002.
• Preiss T, Chrzanowska-Lightowlers ZM, Lightowlers RN. Glutamate dehydrogenase: an organelle specific mRNA-binding protein. Trends in Biochemical Sciences 1997, 22(8), 290-290.
• Bidooki SK, Johnson MA, Chrzanowska-Lightowlers Z, Bindoff LA, Lightowlers RN. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. American Journal of Human Genetics 1997, 60(6), 1430-1438.
• Lightowlers RN, Chinnery PF, Turnbull DM, Howell N, Turnbull DM. Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease. Trends in Genetics 1997, 13(11), 450-455.
• P. L. Adams,R. N. Lightowlers,D. M. Turnbull. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 1997, 41(2), 268-70.
• P. L. Adams, R. N. Lightowlers and D. M. Turnbull. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Annals of Neurology 1997, 41, 268-270.
• Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997, 120(10), 1713-1721.
• K. M. Clark,L. A. Bindoff,R. N. Lightowlers,R. M. Andrews,P. G. Griffiths,M. A. Johnson,E. J. Brierley,D. M. Turnbull. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997, 16(3), 222-4.
• K. M. Clark, L. A. Bindoff, R. N. Lightowlers, R. M. Andrew, P. G. Griffiths, M. A. Johnson, E. J. Brierley and D. M. Turnbull. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nature Genetics 1997, 16, 222-224.
• R. W. Taylor, P. F. Chinnery, D. M. Turnbull and R. N. Lightowlers. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nature Genetics 1997, 15, 212-215.
• Taylor R.W., Chinnery P.F., Clark K.M., Lightowlers R.N., Turnbull D.M. Selective inhibition of mutant mitochondrial DNA replication. Emerging Therapeutic Targets 1997, 1, 249-252.
• Taylor R.W., Chinnery P.F., Clarke K., Turnbull D.M., Lightowlers R.N. Treatment of mitochondrial disease. Journal of Bioenergetics and Biomembranes 1997, 29, 195-204.
• M. A. Dunn,K. Brown,R. Lightowlers,M. A. Hughes. A low-temperature-responsive gene from barley encodes a protein with single-stranded nucleic acid-binding activity which is phosphorylated in vitro. Plant Mol Biol 1996, 30(5), 947-59.
• Lightowlers RN, Sang AE, Preiss T, Chrzanowska-Lightowlers ZMA. Targeting proteins to mitochondria: Is there a role for mRNA localization?. In: 657th Meeting of the Biochemical Society. 1996, University of Aberdeen, Scotland: Biochemical Society Transactions, Portland Press.
• Chrzanowska-Lightowlers ZMA, Lightowlers RN, Turnbull DM. Gene Therapy for Mitochondrial DNA Defects - is it possible?. Gene Therapy 1995, 2(5), 311-316.
• T. Preiss,S. A. Lowerson,K. Weber,R. N. Lightowlers. Human mitochondria: distinct organelles or dynamic network?. Trends Genet 1995, 11(6), 211-2.
• A. A. Morris,R. W. Taylor,R. N. Lightowlers,A. Aynsley-Green,K. Bartlett,D. M. Turnbull. Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. Hum Mol Genet 1995, 4(4), 747-9.
• Preiss T, Sang AE, Chrzanowska-Lightowlers ZMA, Lightowlers RN. The mRNA-binding protein COLBP is glutamate dehydrogenase. FEBS Letters 1995, 367(3), 291-296.
• R. Schillace,T. Preiss,R. N. Lightowlers,R. A. Capaldi. Developmental regulation of tissue-specific isoforms of subunit VIa of beef cytochrome c oxidase. Biochim Biophys Acta 1994, 1188(3), 391-7.
• Chrzanowska-Lightowlers ZMA, Preiss T, Lightowlers RN. Inhibition of Mitochondrial Protein Synthesis Promotes Increased Stability of Nuclear-Encoded Respiratory Gene Transcripts. Journal of Biological Chemistry 1994, 269(44), 27322-27328.
• Preiss T, Chrzanowska-Lightowlers ZM, Lightowlers RN. The tissue-specific RNA-binding protein COLBP is differentially regulated during myogenesis. Biochimica et Biophysica Acta 1994, 1221(3), 286-289.
• Chrzanowska-Lightowlers ZMA, Turnbull DM, Lightowlers RN. A microtitre plate assay for cytochrome c oxidase in permeabilized whole cells. Analytical Biochemistry 1993, 214, 45-49.
• L. A. Bindoff,N. Howell,J. Poulton,D. A. McCullough,K. J. Morten,R. N. Lightowlers,D. M. Turnbull,K. Weber. Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism. J Biol Chem 1993, 268(26), 19559-64.
• Chrzanowska-Lightowlers ZMA, Turnbull DM, Bindoff LA, Lightowlers RN. An antisense oligodeoxynucleotide approach to investigate the function of the nuclear-encoded subunits of human cytochrome c oxidase. Biochemical and Biophysical Research Communications 1993, 196(1), 328-335.
• Preiss T, Hall AG, Lightowlers RN. Identification of bovine glutamate dehydrogenase as an RNA-binding protein. Journal of Biological Chemistry 1993, 268(33), 24523-24526.
• J. E. Sadlock,R. N. Lightowlers,R. A. Capaldi,E. A. Schon. Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase. Biochim Biophys Acta 1993, 1172(1-2), 223-5.
• R. N. Lightowlers. Neurologic complications of inherited mitochondrial abnormality, and neurologic consequences of inborn errors of metabolism. Curr Opin Neurol Neurosurg 1993, 6(3), 429-36.
• T. Preiss,R. N. Lightowlers. Post-transcriptional regulation of tissue-specific isoforms. A bovine cytosolic RNA-binding protein, COLBP, associates with messenger RNA encoding the liver-form isopeptides of cytochrome c oxidase. J Biol Chem 1993, 268(14), 10659-67.
• R. N. Lightowlers. Hereditary disorders including mitochondrial diseases. Curr Opin Neurol Neurosurg 1992, 5(3), 368-74.
• R. D. Carrero-Valenzuela,F. Quan,R. Lightowlers,N. G. Kennaway,M. Litt,M. Forte. Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family. Gene 1991, 102(2), 229-36.
• Lightowlers RN, Chrzanowska-Lightowlers ZMA, Marusich M, Capaldi RA. Subunit function in eukaryote cytochrome c oxidase: A mutation in the nuclear-coded subunit IV allows assembly but alters the function and stability of yeast cytochrome c oxidase. Journal of Biological Chemistry 1991, 266(12), 7688-7693.
• N. G. Kennaway,R. D. Carrero-Valenzuela,G. Ewart,V. K. Balan,R. Lightowlers,Y. Z. Zhang,B. R. Powell,R. A. Capaldi,N. R. Buist. Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency. Pediatr Res 1990, 28(5), 529-35.
• R. Lightowlers,G. Ewart,R. Aggeler,Y. Z. Zhang,L. Calavetta,R. A. Capaldi. Isolation and characterization of the cDNAs encoding two isoforms of subunit CIX of bovine cytochrome c oxidase. J Biol Chem 1990, 265(5), 2677-81.
• S. M. Howitt,R. N. Lightowlers,F. Gibson,G. B. Cox. Mutational analysis of the function of the a-subunit of the F0F1-APPase of Escherichia coli. Biochim Biophys Acta 1990, 1015(2), 264-8.
• B. H. Robinson,D. M. Glerum,W. Chow,R. Petrova-Benedict,R. Lightowlers,R. Capaldi. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Pediatr Res 1990, 28(5), 549-55.
• G. Ewart,R. Lightowlers,Y. Z. Zhang,V. J. Balan,N. Kennaway,R. A. Capaldi. Tissue specificity and defects in human cytochrome c oxidase. Biochim Biophys Acta 1990, 1018(2-3), 223-4.
• R. Lightowlers,S. Takamiya,R. Wessling,M. Lindorfer,R. A. Capaldi. Cloning and sequencing of the cDNA for a 13th different subunit (IHQ) of beef heart cytochrome c oxidase. J Biol Chem 1989, 264(28), 16858-61.
• R. N. Lightowlers,R. A. Capaldi. Nucleotide sequence of the cDNA encoding subunit AED (VIB) of beef heart cytochrome c oxidase. Nucleic Acids Res 1989, 17(14), 5845.
• R. N. Lightowlers,S. M. Howitt,L. Hatch,F. Gibson,G. Cox. The proton pore in the Escherichia coli F0F1-ATPase: substitution of glutamate by glutamine at position 219 of the alpha-subunit prevents F0-mediated proton permeability. Biochim Biophys Acta 1988, 933(2), 241-8.
• G. B. Cox,D. Webb,L. Hatch,R. Lightowlers,A. Munn,F. Gibson. Altered translation of the uncC gene coding for the epsilon subunit of the F1F0-ATPase of Escherichia coli. J Bacteriol 1987, 169(7), 2945-9.
• R. N. Lightowlers,S. M. Howitt,L. Hatch,F. Gibson,G. B. Cox. The proton pore in the Escherichia coli F0F1-ATPase: a requirement for arginine at position 210 of the a-subunit. Biochim Biophys Acta 1987, 894(3), 399-406.