Background

I completed my undergraduate studies at the University of Debrecen, Hungary in Medical Biology (2004) and subsequently I received a PhD in Cell Biology at Durham University UK (2009). 

I started my post-doctoral carrier by first investigating embryonic heart development via genetically engineered mice lines. Later, in 2011, I joined the mitochondrial research group and primarily studied the molecular basis of reversibility in infantile reversible cytochrome c oxidase deficiency myopathy and many more rare diseases linked to mitochondrial dysfunction.

In 2018, I was appointed as an Experimental Scientific Officer to establish the Applied Neuromuscular Junction Facility to support and develop the services provided by the Bio-Imaging unit. I have gained specialist knowledge in functional nerve and muscle dissection (mouse, human) followed by electrophysiology and immunohistochemistry; this role also involves providing scientific and technical support; training and advice on electrophysiological recordings; microscopy; image analysis and associated technologies.

Research

Within the Neuromuscular Junction (NMJ) Facility I'm primarily interested in impaired neuromuscular transmission resulting from defects of NMJ which plays an important role in the pathogenesis of many human diseases. Recent advances have identified numerous mutations in more than 30 genes that underlie these diseases. However, the impact of these disruptions on NMJ function have often not been directly investigated, and the molecular and structural events that underlie pathogenesis thus remain obscure. The predominant aim of the NMJ research facility is to carry out correlated studies of the function and structure of individual NMJs, using intracellular electrophysiology coupled with high-resolution fluorescence microscopy.

Teaching

I was involved in regular lecture series both at Durham and Newcastle University these included:

1. Cell Biology Biomedical Sciences (Newcastle University) CMB1004
2. Genomics of Common and Rare Diseases Lecture Series (Newcastle UNiversity) GNM8003
3. Neuromuscular Diseases Bench to Bedside: Zebrafish models for neuromuscular diseases (Newcastle UNiversity) MMB8036
4. Mitochondrial Biology & Medicine (Newcastle University) MMB8034
5. Cell Biology (Durham University) BIOL2481

Publications

• Articles

  • Kurzawa-Akanbi M, Whitfield P, Burte F, Bertelli PM, Pathak V, Doherty M, Hilgen B, Gliaudelyte L, Platt M, Queen R, Coxhead J, Porter A, Oberg M, Fabrikova D, Davey T, Beh CS, Georgiou M, Collin J, Boczonadi V, Hartlova A, Taggart M, Al-Aama J, Korolchuk VI, Morris CM, Guduric-Fuchs J, Steel DH, Medina RJ, Armstrong L, Lako M. Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina. Journal of Extracellular Vesicles 2022, 11(12), 12295.
  • Roesl C, Evans ER, Dissanayake KN, Boczonadi V, Jones RA, Jordan GR, Ledahawsky L, Allen GCC, Scott M, Thomson A, Wishart TM, Hughes DI, Mead RJ, Shone CC, Slater CR, Gillingwater TH, Skehel PA, Ribchester RR. Confocal endomicroscopy of neuromuscular junctions stained with physiologically inert protein fragments of tetanus toxin. Biomolecules 2021, 11(10), 1499.
  • Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattmann A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmuller H, DiMauro S, Minczuk M, Chinnery PF, Muller JS, Horvath R. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. EMBO Journal 2020, 39(23), e10536.
  • McMacken GM, Spendiff S, Whittaker RG, O'Connor E, Howarth RM, Boczonadi V, Horvath R, Slater CR, Lochmuller H. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome. Human Molecular Genetics 2019, 28(14), 2339-2351.
  • Boczonadi V, Jennings MJ, Horvath R. The role of tRNA synthetases in neurological and neuromuscular disorders. FEBS letters 2018, 592(5), 703-717.
  • Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmuller H, Boycott KM, Muller JS, Horvath R. Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. Human Molecular Genetics 2018, 27(12), 2187-2204.
  • Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease. Genetics in Medicine 2018, 20(10), 1224-1235.
  • Boczonadi V, Ricci G, Horvath R. Mitochondrial DNA transcription and translation: clinical syndromes. Essays in Biochemistry 2018, 62(3), 321-340.
  • Bartsakoulia M, Pyle A, Troncoso-Chandia D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmuller H, Kleinle S, Chinnery PF, Grunert S, Kirschner J, Eisner V, Horvath R. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Human Molecular Genetics 2018, 27(7), 1186-1195.
  • Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmuller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology 2017, 88(13), 1226-1234.
  • Olsen RKJ, Konarikova E, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, Veauville-Merllie A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Moslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazza D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. American Journal of Human Genetics 2016, 98(6), 1130-1145.
  • Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R. Mitochondrial dysfunction in liver failure requiring transplantation. Journal of Inherited Metabolic Disease 2016, 39(3), 427-436.
  • Bartsakoulia M, Müller JS, Gomez-Duran A, Yu-Wai-Man P, Boczonadi V, Horvath R. Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies. Journal of Neuromuscular Diseases 2016, 3(3), 363-379.
  • Giunta M, Edvardson S, Yaobo X, Schuelke M, GomezDuran A, Boczonadi V, Elpeleg O, Muller JS, Horvath R. Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Human Molecular Genetics 2016, 25(14), 2985-2996.
  • Boczonadi V, Bansagi B, Horvath R. Reversible infantile mitochondrial diseases. Journal of Inherited Metabolic Disease 2015, 38(3), 427-435.
  • Boczonadi V, Giunta M, Lane M, Tulinius M, Schara U, Horvath R. Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. International Journal of Biochemistry & Cell Biology 2015, 63, 32-40.
  • Herrmann DN, Horvath R, Sowden JE, Gonzales M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmuller H, Griffin H, Chinnery PE, Lloyd TE, Littleton JT, Zuchner S. Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy. American Journal of Human Genetics 2014, 95(3), 332-339.
  • Boczonadi V, Gillespie R, Keenan ID, Ramsbottom SA, Donald-Wilson C, Al Nazer M, Humbert P, Schwarz RJ, Chaudhry B, Henderson DJ. Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium. Cardiovascular Research 2014, 104(1), 103-115.
  • Boczonadi V, Horvath R. Mitochondria: Impaired mitochondrial translation in human disease. International Journal of Biochemistry & Cell Biology 2014, 48, 77-84.
  • Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications 2014, 5, 4287.
  • Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmuller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Journal of Neurology 2014, 261(11), 2192-2198.
  • Boczonadi V, Smith PM, Chinnery PF, Horvath R. Defective thiolation impairs mitochondrial translation offering a therapy approach in reversible infantile respiratory chain deficiency. Mitochondrion 2013, 13(6), 902-902.
  • Neeve VC, Pyle A, Boczonadi V, Gómez-Durán A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion 2013, 13(6), 743-748.
  • Boczonadi V, Smith PM, Pyle A, Gómez-Durán A, Schara U, Tulinius M, Chinnery PF, Horvath R. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Human Molecular Genetics 2013, 22(22), 4602-4615.
  • Boczonadi V, Määttä A. Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes. FEBS Letters 2012, 19(586), 3090-3096.
  • Boczonadi V, McInroy L, Määttä A. Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration. Exp Cell Res 2007. In Preparation.
  • Long HA, Boczonadi V, McInroy L, Goldberg M, Maatta A. Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in Keratin 8 down-regulated epithelial sheets. Journal of Cell Science 2006, 119(24), 5147-5159.

• Book Chapter

  • Boczonadi V, Maatta A. Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins. In: Methods in Enzymology. Academic Press Inc, 2016, pp.309-329.

• Conference Proceedings (inc. Abstracts)

  • Bartsakoulia M, Muller JS, Gomez-Duran A, Boczonadi V, Horvath R. Supplementation with L-cysteine improves mitochondrial protein synthesis in a subgroup of mitochondrial translation deficiencies. In: Mitochondria Research Society/United Mitochondrial Disease Foundation Meeting. 2016, Seattle: Elsevier BV.
  • Boczonadi V, Meyer K, Kaspar B, Bartsakoulia M, Bansagi B, Bruni F, Boycott K, Mueller J, Horvath R. Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons. In: Journal of the Peripheral Nervous System. 2016, Venice-Mestre, Italy: Wiley-Blackwell Publishing, Inc.
  • Boczonadi V, Meyer K, Kaspar B, Bartsakoulia M, Bansagi B, Bruni F, Boycott K, Mueller JS, Horvath R. Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons. In: Mitochondria Research Society/United Mitochondrial Disease Foundation Meeting. 2016, Seattle: Elsevier BV.
  • Griffiths A, Boczonadi V, Horvath R, Afridi F, Talbot D. Changes in Mitochondrial electron transport chain complex expression in ischaemia and reperfusion. In: 3rd International Meeting on Ischemia Reperfusion Injury in Transplantation - IMIRT 2016. 2016, Poitiers, France: Wiley-Blackwell.
  • 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.
  • Henderson DJ, Boczonadi V, Humbert P, Chaudhry B. Conditional deletion of Scrib gene in the developing myocardium leads to congenital heart defects. In: 2nd Congress of the European Society of Cardiology Council on Basic Cardiovascular Science: Frontiers in Cardiovascular Biology. 2012, London, UK: Oxford University Press.
  • Boczonadi V, Chen V, Henderson D, Chaudhry B. Cell traction force microscopy in cardiac morphogenesis. In: Mechanisms of Development: 16th International Society of Developmental Biologists Congress. 2009, Edinburgh, UK: Elsevier Ireland Ltd.
  • Phillips H, Boczonadi V, Chaudhry B, Henderson D. 03-P015: Rho kinase is required for cohesive behaviour of neural crest cells during outflow tract morphogenesis. In: Mechanisms of Development: 16th Annual Conference of the International Society of Development Biologists. 2009, Edinburgh, UK: Elsevier Ireland Ltd.

• Editorial

  • Boczonadi V, Horvath R. Amyloid-beta in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing. EMBO Molecular Medicine 2016, 8(3), 173-175.

• Note

  • Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251). Genetics in Medicine 2019, 21, 2163-2164.