Staff Profile
Professor Zofia Chrzanowska-Lightowlers
Professor of Mitochondrial Biology
- Email: zofia.chrzanowska-lightowlers@ncl.ac.uk
- Telephone: +44 (0) 191 208 8028
- Fax: +44 (0) 191 208 8553
- Personal Website: https://www.newcastle-mitochondria.com/wp-content/cache/all/prof-zofia-chrzanowska-lightowlers/index.html
- Address: Wellcome Centre for Mitochondrial Research
Newcastle University
The Medical School
Framlington Place
Newcastle upon Tyne
NE2 4HH
England
Introduction
My research focuses on gene expression in the human mitochondrion. The organelle has its own genome and the transcribed RNA is translated in organello. My work aims to identify and understand the molecular mechanisms underlying these processes. We are currently identifying and isolating factors that are important for modulating post-transcriptional regulation in the human mitochondrion. Main questions we are addressing include: What are the rescue mechanisms that act on stalled mitoribosomes? How is mt-RNA targetted for degradation ? What elements affect mitoribosome progression through the transcript ? Where does translation of each transcript take place at a suborganellar level ?
Roles and Responsibilities
Director of the Institute of Neuroscience (2017 - 2019)
Deputy Director MRes (2003 - current)
Chair Curriculum Committee (MRes) (2003 - current)
Programme lead for MRes Mitochondrial Biology and Medicine
Qualifications
BSc (Hons) Biological Sciences, University of East Anglia
PGCE, University of London
MSc, University of Oregon
PhD, University of Newcastle
Research Interests
The mitochondrion is an organelle found in all nucleated cells of higher eukaryotes. It is the site of oxidative phosphorylation and contains its own genome that encodes 13 proteins, which are essential components of these respiratory complexes. In addition to the mRNAs the genome also encodes the 22 tRNAs and 2 rRNAs that are required for this intra-mitochondrial protein synthesis. Our work is focussed on unravelling the nuances of gene expression in mammalian mitochondria.
It is the fate of these mitochondrial mRNA species that we are investigating. Although much is known about the turnover of cytosolic and bacterial transcripts, until very recently almost nothing was clear about the mitochondrial RNA species. Do they behave as their bacterial ancestors or follow the example of the cytosol in which they reside ? What is the normal decay mechanism and what are the enzymes responsible for carrying out these activities ? We have identified that in contrast to yeast, the mammalian mt-transcripts are polyadenylated but the full function of this tail is not yet certain. In addition to completing the stop codon for 7 open reading frames, it affects transcript stability in specific but different ways for the individual mtDNA encoded transcripts. Since the mitochondrial genome cannot yet be manipulated we have used cell lines with identified mutations to try and answer some of these questions. By using a cell line that has a 2 base pair microdeletion the resulting mRNA loses the termination codon, we have identified a ‘non-stop’ decay mechanism and shown that in this situation the inhibition of translation confers stability to the aberrant transcript.
Our work includes investigations into the mitochondrial nucleases and mt-RNA-binding proteins involved in the mechanism described above as well as those involved in the normal deadenylation and decay and characterising their specificity.
We have spent many years investigating the release factors and recycling factors. Although we have learned a great deal the precise function played by mtRF1 and C12orf65 still elude the field, and the role of ICT1 that is not incorporated in the mitoribosome also remains enigmatic. It is however, very likely that these factors are responsible for terminating translation under specific circumstances.
Within our department the link between pure and clinical research is very strong. Many of the neurological conditions that patients present with affect their mitochondrial DNA. In some instances this would be predicted to affect the subsequent transcription and translation. This provides the opportunity to study the differences in the homeostasis of mitochondrial mRNA in controls versus disease.
Postgraduate Supervision
I currently supervise 5 postgraduate PhD students and am tutor to undergraduate and MRes students.
Funding
The Wellcome Trust and the EU currently support the ongoing research in my laboratory
Keywords
RNA metabolism, mitochondrial RNA, degradation, mitochondrial gene expression, polyadenylation, stability
Undergraduate Teaching
I have hosted final Honours year undergraduates in my lab for their research project work for over 20 years.
Postgraduate Teaching
I am the Deputy Director for the suite of MRes courses in Medical and Molecular Biosciences.
I am also the Chair of the Curriculum Committee and Director for Admissions and Recruitment.
I am programme director for and teach on the MRes in Mitochondrial Biology and Medicine.
I host Erasmus students from numerous European countries as well as MRes project students in my group.
I am responsible for a number of home, EU and International PhD students that I supervise.
I have served on the Management Committee for Training for the NIHR funded BRC/BRU programme.
I am involved in the assessment and marking of MBBS, MSci, BSc and MRes student courses.
- VanEyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ. Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy. Neuropediatrics 2020, 51(03), 178-184.
- Peretz M, Tworowski D, Kartvelishvili E, Livingston J, Chrzanowska-Lightowlers Z, Safro M. Breaking a single hydrogen bond in the mitochondrial tRNAPhe-PheRS complex leads to phenotypic pleiotropy of human disease. The FEBS Journal 2020, 287(17), 3814-3826.
- 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.
- 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.
- 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.
- Bruni F, Di-Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D. Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease. Human Mutation 2018, 39(4), 563–578.
- 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.
- 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.
- Tai HR, Wang Z, Gong H, Han XJ, Zhou J, Wang XB, Wei XW, Ding Y, Huang N, Qin JQ, Zhang J, Wang S, Gao F, Chrzanowska-Lightowlers ZM, Xiang R, Xiao HY. Autophagy impairment with lysosomal and mitochondrial dysfunction is an important characteristic of oxidative stress-induced senescence. Autophagy 2017, 13(1), 99-113.
- 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.
- Bruni F, Lightowlers RN, Chrzanowska-Lightowlers ZM. Human mitochondrial nucleases. The FEBS Journal 2017, 284(12), 1767-1777.
- Chrzanowska-Lightowlers Z, Rorbach J, Minczuk M. Human mitochondrial ribosomes can switch structural tRNAs – but when and why?. RNA Biology 2017, 14(12), 1668-1671.
- Kartvelishvili E, Tworowski D, Vernon H, Moor N, Wang J, Wong L-J, Chrzanowska-Lightowlers Z, Safro M. Kinetic and structural changes in H smtPheRS, induced by pathogenic mutations in human FARS2. Protein Science 2017, 26(8), 1505-1516.
- 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.
- Maus M, Cuk M, Patel B, Lian J, Ouimet M, Kaufmann U, Yang J, Horvath R, Hornig-Do H-T, Chrzanowska-Lightowlers ZM, Moore KJ, Cuervo AM, Feske S. Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism. Cell Metabolism 2017, 25(3), 698-712.
- 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.
- 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.
- 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.
- 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.
- 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.
- Dujeancourt L, Richter R, Chrzanowska-Lightowlers ZM, Bonnefoy N, Herbert CJ. Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondria. Mitochondrion 2013, 13(6), 871-880.
- Serre V, Rozanska A, Beinat M, Chretien D, Boddaert N, Munnich A, Rötig A, Chrzanowska-Lightowlers ZM. Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2013, 1832(8), 1304-1312.
- 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.
- Lightowlers RN, Chrzanowska-Lightowlers ZMA. Exploring our origins-the importance of OriL in mtDNA maintenance and replication. EMBO Reports 2012, 13(12), 1038-1039.
- Challen C, Anderson JJ, Chrzanowska-Lightowlers ZMA, Lightowlers R, Lunec J. Recombinant human MDM2 oncoprotein shows sequence composition selectivity for binding to both RNA and DNA. International Journal of Oncology 2012, 40(3), 851-859.
- 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.
- 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.
- 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.
- Sanaker PS, Toompuu M, Hogan VE, He LP, Tzoulis C, Chrzanowska-Lightowlers ZMA, Taylor RW, Bindoff LA. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et Biophysica Acta: Molecular Basis of Disease 2010, 1802(6), 539-544.
- 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 RJ, Wydro M, Lightowlers RN, Chrzanowska-Lightowlers ZM. Human mitochondrial mRNAs - like members of all families, similar but different. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2010, 1797(6-7), 1081-1085.
- 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.
- Horvath R, Kemp JP, Tuppen HAL, Hudson G, Pyle A, Holinski-Feder E, Abicht A, Czermin B, Walter MC, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Lochmuller H, Taylor RW, Chinnery PF. Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford, UK: Neuromuscular Disorders, Elsevier.
- Richter R, Pajak A, Dennerlein S, Smith PM, Rozanska A, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Knowing when to stop - human mitochondrial translation termination. In: Biochimica et Biophysica Acta: Bioenergetics. 16th European Bioenergetics Conference. 2010, Warsaw, Poland: Elsevier BV.
- Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, vanderKnaap MS, Smeitink JA, Chrzanowska-Lightowlers ZMA, Shoubridge EA. Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect. American Journal of Human Genetics 2010, 87(1), 115-122.
- 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.
- Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZMA, Thorburn DR, McFarland R, Taylor RW. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain 2010, 133(10), 2952-2963.
- Richter R, Pajak A, Dennerlein S, Rozanska A, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Translation termination in human mitochondrial ribosomes. Biochemical Society Transactions 2010, 38(6), 1523–1526.
- Fan KB, Chrzanowska-Lightowlers ZMA, Hesketh JE. Fine mapping of interactions between eEF1 alpha protein and 3 ' UTR of metallothionein-1 mRNA. Biochemical and Biophysical Research Communications 2009, 386(1), 82-88.
- Sanaker PS, Toompuu M, Chrzanowska-Lightowlers Z, He L, Hogan V, Taylor RW, Tzoulis C, Bindoff LA. G.P.11.01: RNA processing differences explain tissue specificity in exercise intolerance myopathy due to ISCU intronic mutation. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
- 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.
- Boesch P, Lightowlers RN, Chrzanowska-Lightowlers ZMA. Mitochondrial DNA and Diseases. Chichester: John Wiley & Sons, Ltd, 2008. Available at: http://dx.doi.org/10.1002/9780470015902.a0001462.pub2.
- 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.
- 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.
- 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.
- Mickleburgh I, Chabanon H, Nury D, Fan K, Burtle B, Chrzanowska-Lightowlers Z, Hesketh J. Elongation factor 1α binds to the region of the metallothionein-1 mRNA implicated in perinuclear localization - Importance of an internal stem-loop. RNA 2006, 12(7), 1397-1407.
- 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.
- Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZMA, White CB, Shield JPH, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatric Research 2006, 59(3), 440-444.
- Mickleburgh I, Burtle B, Hollas H, Campbell G, Chrzanowska-Lightowlers Z, Vedeler A, Hesketh J. Annexin A2 binds to the localization signal in the 3′ untranslated region of c-myc mRNA. FEBS Journal 2005, 272(2), 413-421.
- 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.
- McFarland R, Pye D, Glanville M, Chrzanowska-Lightowlers Z, Turnbull D, Lightowlers R. A homoplasmic mtDNA mutation promotes rapid decay of deacylated mt-tRNAVal. In: Biochimica et biophysica acta. Bioenergetics. 2004, Netherlands: Elsevier BV.
- Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AAM, Charlton CPJ, Turnbull DM, Bindoff LA. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics 2004, 12(6), 509-512.
- 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.
- Chrzanowska-Lightowlers Z, Temperley R, Lightowlers R. Human mitochondria possess a translation-dependent deadenylation decay pathway. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
- Mickleburgh I, Burtle B, Nury D, Chabanon H, Chrzanowska-Lightowlers ZMA, Hesketh J. Isolation and identification of a protein binding to the localization element of Metallothionein-1 mRNA. Biochemical Society Transactions 2004, 32(5), 705-7066.
- 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.
- 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.
- Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZMA, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene. Neuromuscular Disorders 2004, 14(7), 417-420.
- Deschauer M, Chrzanowska-Lightowlers ZMA, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S. A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. Molecular Genetics and Metabolism 2003, 79(2), 124-128.
- Kearns P, Chrzanowska-Lightowlers ZMA, Pieters R, Veerman A, Hall AG. Expression of GSTM isoforms in childhood acute lymphoblastoid leukaemia. British Journal of Haematology 2003, 120(1), 80-88.
- 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.
- Kearns PR, Chrzanowska-Lightowlers ZMA, Pieters R, Veerman A, Hall AG. Mu class glutathione S-transferase mRNA isoform expression in acute lymphoblastic leukaemia. British Journal of Haematology 2003, 120(1), 80-88.
- Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZMA, Dong L, Figlewicz DA, Shaw PJ. Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain 2002, 125(7), 1522-1533.
- Shamloula HK, Mbogho MP, Pimentel AC, Chrzanowska-Lightowlers ZMA, Hyatt V, Okano H, Venkatesh TR. rugose (rg), a drosophila a kinase anchor protein, is required for retinal pattern formation and interacts genetically with multiple signaling pathways. Genetics 2002, 161(2), 693-710.
- von Delwig A, Lee JJ, Chrzanowska-Lightowlers ZMA, Robinson JH. TGF-β1 and IFN-γ cross-regulate antigen presentation to CD4 T cells by macrophages. Journal of Leukocyte Biology 2002, 72(1), 163-166.
- 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.
- 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.
- 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.
- 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.
- 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.
- Gays F, Unnikrishnan M, Shrestha S, Fraser KP, Brown AR, Tristram CMG, Chrzanowska-Lightowlers ZMA, Brooks CG. The mouse tumor cell lines EL4 and RMA display mosaic expression of NK- related and certain other surface molecules and appear to have a common origin. Journal of Immunology 2000, 164(10), 5094-5102.
- 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.
- Toomey JA, Salcedo M, Cotterill LA, Millrain MM, Chrzanowska-Lightowlers Z, Lawry J, Fraser K, Gays F, Robinson JH, Shrestha S, Dyson PJ, Brooks CG. Stochastic acquisition of Qa1 receptors during the development of fetal NK cells in vitro accounts in part but not in whole for the ability of these cells to distinguish between class I-sufficient and class I-deficient targets. Journal of Immunology 1999, 163(6), 3176-3184.
- Szczepanska K, Chrzanowska-Lightowlers Z, Degnan BA, Diamond AG, Robson T, Ryzewska A, Goodacre JA. Th1-type cytokine mRNA in rheumatoid arthritis mononuclear cells induced by streptococcal pyrogenic exotoxin A. Rheumatology 1999, 38(10), 1022-1024.
- Toomey JA, Shrestha S, de la Rue SA, Gays F, Robinson JH, Chrzanowska-Lightowlers ZMA, Brooks CG. MHC class I expression protects target cells from lysis by Ly49-deficient fetal NK cells. European Journal of Immunology 1998, 28(1), 47-56.
- 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, 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.
- Preiss T, Sang AE, Chrzanowska-Lightowlers ZMA, Lightowlers RN. The mRNA-binding protein COLBP is glutamate dehydrogenase. FEBS Letters 1995, 367(3), 291-296.
- 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.
- 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.
- 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.