Anatomy@Edinburgh

Professor Tom Gillingwater

Professor of Anatomy

Professor Tom Gillingwater

Professor of Anatomy

  • University of Edinburgh

Contact details

Address

Street

Old Medical School
Teviot Place

Post Code
EH8 9AG

Other affiliations

Biography

Tom graduated in Human Biology [Anatomy] from the University of Leeds before moving to the University of Edinburgh, graduating with a PhD in Neuroscience in 2001. Following a period of postdoctoral research, he was appointed to a Lectureship in Anatomy at the University of Edinburgh in 2004, promoted to a personal chair in 2010, and became the 15th Professor of Anatomy at the University of Edinburgh in 2015 (the Chair of Anatomy was founded in 1705).

Tom graduated from Edinburgh University Business School with an MBA in 2006, is an elected Fellow of the Anatomical Society (FAS), Royal Society of Biology (FRSB), Royal Society of Arts (FRSA), and the Royal Microscopical Society (FRMS).

Tom leads an active research team that has secured in excess of £8million in research funding from a variety of international funding bodies. Tom has authored more than 140 papers in a variety of leading international journals, including Journal of Clinical Investigation, Cell Reports, The Lancet, Neuron, Nature Reviews Neurology, Nature Communications, Nature Neuroscience, Brain, Genome Biology, PLoS Genetics, Acta Neuropathologica, Trends in Molecular Medicine, Genome Medicine, Annals of Neurology, Current Biology, American Journal of Human Genetics, Human Molecular Genetics, eLife, and Journal of Neuroscience. He has supervised or co-supervised more than 40 PhD and MSc research students.

Tom has board-level experience from several national and international organisations (including Association Française Contre les Myopathies, the SMA Trust, SMA Europe, Muscular Dystrophy UK, and the Anatomical Society) and sits on the editorial boards of international journals: he has been Editor-in-Chief at the Journal of Anatomy since 2011 and Associate Editor at the Journal of Neuromuscular Diseases since 2013. Tomregularly acts as an expert reviewer for international grant agencies, research journals and academic textbooks. He is currently serving as an external examiner for the University of Oxford and NUI Galway, and is an Intercollegiate MRCS Examiner for the Royal College of Surgeons.

Teaching overview

Tom has overall responsibility for, and teaches on all aspects of, the wide range of undergraduate and postgraduate anatomy activities at the University of Edinburgh, including the MBChB, the MSc in Human Anatomy and the Online Distance Learning Programme in Anatomical Sciences. He is also Course Director for Anatomy & Pathology 2 (BSc Medical Sciences) and Course Director for Anatomy & Development 3 (BSc Biomedical Sciences). In addition, Tom and colleagues have developed an extensive portfolio of external anatomy teaching activities, ranging from school outreach projects and public anatomy workshops, through to specialist clinical/surgical training courses (several in collaboration with the Royal College of Surgeons of Edinburgh and other external partner organisations).

Research overview

Tom’s research laboratory is based in the Centre for Discovery Brain Sciences and the Euan MacDonald Centre for Motor Neurone Disease Research. It focuses on understanding cellular and molecular mechanisms that regulate the form and function of the nervous system in health and disease. Members of the lab routinely combine quantitative imaging (e.g. confocal and electron microscopy) and molecular biology techniques (e.g. proteomics and microarray screens) to study the structure and function of the central and peripheral nervous systems, both in vivo and in vitro. Currently, research efforts are focussed on: i) understanding disease mechanisms and developing new therapies for motor neuron diseases, including spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS); ii) understanding common cellular and molecular mechanisms that regulate the breakdown of synaptic compartments of neurons across a range of different neurodegenerative conditions; and iii) developing novel imaging strategies for visualising the human nervous system in vivo. Tom is also actively pursuing research aiming to improve standards of anatomy/medical education, and is building international collaborative links to facilitate the utilisation of historical anatomy collections in cutting edge (e.g. genomic) research.

Research publications since 2014:

For full publication list and citations please click here.

  • Huang, Y-T., van der Hoorn, D., Ledahawsky, L.M., Motyl, A.M., Jordan, C.Y., Gillingwater, T.H. & Groen, E.J.N. (2019) Robust comparison of protein levels across tissues and throughout development using standardized quantitative Western blotting. Journal of Visualized Experiments (JoVE) In Press.

  • Graham, L.C., Naldrett, M.J., Kohama, S.G., Smith, C., Lamont, D.J., McColl, B.W., Gillingwater, T.H.,Skehel, P., Urbanski, H.F. & Wishart, T.M. (2019) Regional molecular mapping of primate synapses during normal healthy ageing. Cell Reports 24: 1018-1026.

  • Shorrock, H.K., Gillingwater, T.H. & Groen, E.J.N. (2019) Molecular mechanisms underlying sensory-motor circuit dysfunction in SMA. Frontiers in Molecular Neuroscience 12: 59.

  • Shorrock, H.K., van der Hoorn, D., Boyd, P.J., Hurtado, M.L., Lamont, D.J., Wirth, B., Sleigh, J.N., Schiavo, G., Wishart, T.M., Groen, E.J.N. & Gillingwater, T.H. (2018) UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy. Brain 141: 2878-2894.

  • Šoltić, D., Stock, J., Bowerman, M., Shorrock, H.K., Gillingwater, T.H. & Fuller, H.R. (2018) Multi-study proteomic and bioinformatic identification of molecular overlap between ALS and SMA. Brain Sciences 8: 12.

  • Clamer, M., Tebaldi, T., Lauria, F., Bernabo, P., Gómez-Biagi, R., Perenthaler, E., Gubert, D., Pasquardini, L., Guella, G., Groen, E.J.N., Gillingwater, T.H., Quattrone, A. & Viero, G. (2018) Active ribosome profiling with RiboLace. Cell Reports 25: 1097-1108.
  • Pickett, E.K., Rose, J., McCrory, C., MacKenzie, C-A., King, D., Smith, C., Gillingwater, T.H.,Henstridge, C.M. & Spires-Jones, T.L. (2018) Region-specific depletion of synaptic mitochondria in the brains of patients with Alzheimer’s disease. Acta Neuropathologica 136: 747-757.
  • Chaytow, H., Huang, Y-T., Gillingwater, T.H.* & Faller, K.M.E. (2018) The role of survival motor neuron protein (SMN) in protein homeostasis. Cellular & Molecular Life Sciences 75: 3877-3894. *Corresponding Author

  • Thompson, L.W., Morrison, K.D., Shirran, S., Groen, E.J.N., Gillingwater, T.H., Botting, C. & Sleeman, J.E. (2018) Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology. Journal of Cell Science 131: 8.

  • Groen, E.J.N., Perenthaler, E., Courtney, N.L., Jordan, C.Y., Shorrock, H.K., van der Hoorn, D., Huang, Y-T., Murray, L.M., Viero, G. & Gillingwater, T.H. (2018) Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy. Human Molecular Genetics 27: 2851-2862.

  • Walter, L.M., Deguise, M-O., Meijboom, K.E., Betts, C.A., Ahlskog, N., van Westering, T.L.E., Hazell, G., McFall, E., Kordala, A., Hammond, S.M., Abendroth, F., Murray, L.M., Shorrock, H.K., Prosdocimo, D.A., Haldar, S.M., Jain, M.K., Gillingwater, T.H., Claus, P., Kothary, R., Wood, M.J.A. & Bowerman, M. (2018) Interventions targeting glucocorticoid-Krüppel-like factor 15-branched-chain amino acid signaling improve disease phenotypes in spinal muscular atrophy mice. EBioMedicine 31: 226-242.

  • Roberts, P., Gillingwater, T.H. Mirazon Lahr, M., Lee-Thorp, J., MacCullum, M., Petraglia, M., Wedage, O., Heenbanda, U. & Wainnya-laeto, U. (2018) Historical tropical forest reliance amongst the Wanniyalaeto (Vedda) of Sri Lanka: an isotopic perspective. Human Ecology 46: 435-444.

  • Finn, G.M., Connolly, S., Gillingwater, T.H. & Smith, C.F. (2018) Putting gross anatomy into the curriculum: New anatomy syllabi for nursing and pharmacy students. Anatomical Sciences Education11: 427-428.

  • Maxwell, G.K., Szunyogova, E., Shorrock, H.K., Gillingwater, T.H. & Parson, S.H. (2018) Developmental and Degenerative Cardiac Defects in the Taiwanese Mouse Model of Severe Spinal Muscular Atrophy. Journal of Anatomy 232: 965-978.

  • Fergusson, S.J., Aka, J., Hennessy, C.M., Wilson, A.J., Parson, S.H., Harrison, E.M., Finn, G.M. & Gillingwater, T.H. (2018) Examining the impact of audience response systems on student performance in anatomy education: a randomized controlled trial. Scottish Medical Journal 63: 16-21.

  • Lauria, F., Tebaldi, T., Bernabo, P., Groen, E.J.N., Gillingwater, T.H. & Viero, G. (2018) riboWaltz: optimization of ribosome P-site positioning in ribosome profiling data. PLoS Computational Biology 14(8): e1006169.

  • Groen, E.J.N., Talbot, K. & Gillingwater, T.H. (2018) Advances in therapy for spinal muscular atrophy: promises and challenges. Nature Reviews Neurology 14: 214-224.

  • Connolly, S.A., Gillingwater, T.H., Chandler, C., Grant, A.W., Grieg, J., Meskell, M., Ross, M.T., Smith, C.F., Wood, A.F. & Finn, G.M. (2018) The Anatomical Society’s core anatomy syllabus for undergraduate nursing. Journal of Anatomy 232: 721-728.

  • Shorrock, H.K., Gillingwater, T.H. & Groen, E.J.N. (2018) Overview of current drugs and molecules in development for SMA therapy. Drugs 78: 293-305.

  • Henstridge, C.M., Sideris, D.I., Carroll, E., Rotariu, S., Salomonsson, S., Tzioras, M., MacKenzie, C-A., Smith, C., von Armin, C.A.F., Ludolph, A.C., Lule, D., Leighton, D., Warner, J., Cleary, E., Newton, J., Swingler, R., Chandran, S., Gillingwater, T.H., Abrahams, S. & Spires-Jones, T.L. (2018) Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis. Acta Neuropathologica 135: 213-226.

  • van Putten, M., Aartsma-Rus, A., Grounds, M.D., Kornegay, J.N,. Mayhew, A., Gillingwater, T.H.,Takeda, S., Rüegg, M.A., De Luca, A., Nagaraju, K. & Willmann, R. (2018) Update on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands. Journal of Neuromuscular Diseases 5: 29-34.

  • Jones, R.A., Harrison, C., Eaton, S.L., Llavero Hurtado, M., Graham, L.C., Alkhammash, L., Oladiran, O.A., Gale, A., Lamont, D.J., Simpson, H., Simmen, M.W., Soeller, C., Wishart, T.M. & Gillingwater, T.H. (2017) Cellular and molecular anatomy of the human neuromuscular junction. Cell Reports 21:2348-2356. Micrograph used on front cover of journal

  • Graham, L.C., Eaton, S.L., Brunton, P.J., Atrih, A., Smith, C., Lamont, D.J., Gillingwater, T.H.,Pennetta, G., Skehel, P. & Wishart, T.M. (2017) Proteomic profiling of neuronal mitochondria reveals modulators of synaptic architecture. Molecular Neurodegeneration 12: 77.

  • Fuller, H.R., Shorrock, H.K., Gillingwater, T.H., Pigott, A., Smith, V., Kulshrestha, R., Sewry, C.S. & Willis, T.A. (2017) Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis. Journal of Neuromuscular Diseases 4: 357-362.

  • Rodríguez-Varela, R., Günther, T., Krzewińska, M., Storå, J., Gillingwater, T.H., MacCallum, M., Luis Arsuaga, J., Dobney, K., Valdiosera, C., Jakobsson, M., Götherström, A. & Girdland Flink, L. (2017) Genomic analysis of pre-conquest human remains from the Canary Islands reveal close affinity to modern North Africans. Current Biology 27: 3396-3402.

  • Bernabò, P., Tebaldi, T., Groen, E.J.N., Lane, F.M., Perenthaler, E., Mattedi, F., Newbery, H.J., Zhou, H., Zuccotti, P., Potrich, V., Shorrock, H.K., Muntoni, F., Quattrone, A.*, Gillingwater, T.H.* & Viero, G.* (2017) In vivo translatome profiling in spinal muscular atrophy reveals a role for SMN protein in ribosome biology. Cell Reports 21: 953-965. *Joint senior/corresponding authors

  • Hurtado, M.L., Fuller, H.R., Wong, A.M.S., Eaton, S.L., Gillingwater, T.H., Pennetta, G., Cooper, J.D. & Wishart, T.M. (2017) Proteomic mapping of differentially vulnerable synaptic populations identifies regulators of neuronal stability in vivo. Scientific Reports 7: 12412.

  • McQueen, J., Ryan, T.J., McKay, S., Marwick, K., Baxter, P., Carpanini, S.M., Wishart, T.M.,Gillingwater, T.H., Manson, J.C., Wyllie, D.J.A., Grant, S.G.N., McColl, B., Komiyama, N.H. & Hardingham, G.E. (2017) Pro-death NMDA receptor signaling is promoted by the GluN2B C-terminus independently of DAPK1. eLife 6: e17161.

  • Bowerman, M., Becker, C., Yáñez-Muñoz, R.J., Ning, K., Wood, M., Gillingwater, T.H. & Talbot, K.; The UK SMA Research Consortium (2017) Therapeutic strategies for spinal muscular atrophy: looking beyond the SMN gene. Disease Models & Mechanisms 10: 943-954.

  • Carpanini, S.M., Wishart, T.M., Gillingwater, T.H., Manson, J.C. & Summers, K.M. (2017) Analysis of gene expression in the nervous system identifies key genes and novel candidates for health and disease. Neurogenetics 18: 81-95.

  • Farrar, M.A., Park, S,B., Vucic, S., Carey, K.A., Turner, B., Gillingwater, T.H., Swoboda, K. & Kiernan, M.C. (2017) Emerging therapies and challenges in Spinal Muscular Atrophy. Annals of Neurology 81: 355-368.

  • Boyd, P.J., Tu, W-Y., Shorrock, H.K., Groen, E.J.N., Carter, R.N., Powis, R.A., Thomson, S.R., Thomson, S.R., Thomson, D., Graham, L.C., Motyl, A.A.L., Wishart, T.M., Highley, J.R., Morton, N.M., Becker, T., Becker, C.G., Heath, P.R. & Gillingwater, T.H. (2017) Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genetics 13:e1006744.

  • Herranz-Martin, S., Chandran, J., Lewis, K., Mulcahy, P., Higginbottom, A., Walker, C., Martinez-Pena y Valenzuela, M., Jones, R.A., Coldicott, I., Iannitti, T., Akaaboune, M., El-Khamisy, S.F., Gillingwater, T.H., Shaw, P.J. & Azzouz, M. (2017) Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioural deficits. Disease Models & Mechanisms 10: 859-868.

  • Amorim, I.S., Graham, L.C., Carter, R.N., Morton, N.M., Hammachi, F., Kunath, T., Pennetta, G., Carpanini, S.M., Manson, J.C., Lamont, D.J., Wishart, T.M. & Gillingwater, T.H. (2017) Sideroflexin 3 is a α-synuclein-dependent mitochondrial protein that regulates synaptic morphology. Journal of Cell Science 130: 325-331.

  • Thomson, A.K., Somers, E., Powis, R.A., Shorrock, H.K., Murphy, K., Swoboda, K.J., Gillingwater, T.H. & Parson, S.H. (2017) SMN protein is required for normal postnatal development of the spleen. Journal of Anatomy 230: 337-346.

  • Ross, P.D., Guy, J., Selfridge, J., Kamal, B., Bahey, N., Tanner, E., Gillingwater, T.H., Jones, R.A., Loughrey, C.M., McCarroll, C.S., Bailey, M.E.S., Bird, A. & Cobb, S. (2016) Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes. Human Molecular Genetics 25: 4389-4404.

  • Gillingwater, T.H. (2016) Dawn of a new therapeutic era for SMA. The Lancet 388: 2964–2965.

  • Hunter, G., Powis, R.A., Jones, R.A., Groen, E.J.N., Shorrock, H.K., Lane, F.M., Zheng, Y., Anderson, H., Sherman, D.L., Brophy, P.J. & Gillingwater, T.H. (2016) Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy. Human Molecular Genetics 25: 2853-2861.

  • Jones, R.A., Reich, C.D., Dissanayake, K.N., Kristmundsdottir, F., Findlater, G.S., Ribchester, R.R., Simmen, M. W. & Gillingwater, T.H. (2016) NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction. Open Biology 6: 160240. Micrograph used on front cover of journal.

  • Gillingwater, T.H. (2016) Revealing the secrets of the dead. The Lancet 388: 1974.

  • Powis, R.A., Karyka, E., Boyd, P., Come, J., Jones, R.A., Zheng, Y., Szunyogova, E., Groen, E.J.N., Hunter, G., Thomson, D., Wishart, T.M., Becker, C.G., Parson, S.H., Martinat, C., Azzouz, M. & Gillingwater, T.H. (2016) Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI Insight 1: e87908.

  • Fuller, H.R., Gillingwater, T.H. & Wishart, T.M. (2016) Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscular Disorders 26: 560-569.

  • Gillingwater, T.H. (2016) Counting the cost of spinal muscular atrophy. Journal of Medical Economics 19: 827-828.

  • Szunyogova, E., Zhou, H., Maxwell, G.K., Powis, R.A., Muntoni, F., Gillingwater, T.H. & Parson, S.H. (2016) Survival Motor Neuron (SMN) protein is required for normal mouse liver development. Scientific Reports 6: 34635.

  • Shorrock, H. & Gillingwater, T.H. (2016) Development and translation of therapies for spinal muscular atrophy. European Medical Journal - Neurology 4: 64-73.

  • Smith, C.F., Finn, G.M., Stewart, J., Lee, T.C., Gillingwater, T.H. & McHanwell, S. (2016) A new core gross anatomy syllabus for medicine. Anatomical Sciences Education 9: 209-210.

  • Powis, R.A. & Gillingwater, T.H. (2016) Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy.Journal of Anatomy 228: 443-451.

  • Somers, E., Lees, R.D., Hoban, K., Sleigh, J.N., Zhou, H., Muntoni, F., Talbot, K., Gillingwater, T.H. & Parson, S.H. (2016) Vascular defects and spinal cord hypoxia in spinal muscular atrophy. Annals of Neurology 79: 217-230.

  • Nicholson-Fish J.C., Kokotos A.C., Gillingwater T.H., Smillie K.J. & Cousin M.A. (2015) VAMP4 is an essential cargo molecule for activity-dependent bulk endocytosis. Neuron 88: 973-984.

  • Amorim, I.S., Mitchell, N.L., Palmer, D.N., Sawiak, S.J., Mason, R., Wishart, T.M. & Gillingwater, T.H. (2015) Molecular neuropathology of the synapse in sheep with CLN5 Batten disease. Brain & Behavior5: e00401.

  • Groen, E.J. & Gillingwater, T.H. (2015) UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration. Trends in Molecular Medicine 21: 622-632.

  • Henstridge, C.M., Jackson, R., Kim, M., Herrmann, A., Wright, A.K., Bastin, M., Starr, J., Wardlaw, J.,Gillingwater, T.H., Smith, C., Deary, I. & Spires-Jones, T.L. (2015) Postmortem brain analyses of the Lothian Birth Cohort 1936: Extending lifetime cognitive and brain phenotyping to the level of the synapse. Acta Neuropathologica Communications 3: 53.

  • Gillingwater, T.H. & Murray, L.M. (2015) How far away is spinal muscular atrophy gene therapy? Expert Review of Neurotherapeutics 15: 965-968.

  • Wirth, B., Barkats, M., Martinat, C., Sendtner, M. & Gillingwater, T.H. (2015) Moving towards treatments for spinal muscular atrophy: hopes and limits. Expert Opinion on Emerging Drugs 20: 353-356.

  • Gillingwater, T.H. & Findlater, G.S. (2015) Anatomy: back in the public spotlight. The Lancet 385:1825.

  • Baxter, P.S., Bell, K.F., Kaindl, A., Fricker, M., Thomson, D., Tolkovsky, A., Gillingwater, T.H. & Hardingham, G.E. (2015) Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system in the developing forebrain. Nature Communications 6: 6761.

  • Brown, R., Hynes-Allen, A., Swan, A.J., Dissanayake, K.N., Gillingwater, T.H. & Ribchester, R.R. (2015) Activity-dependent degeneration of axotomised neuromuscular synapses in WldS mice.Neuroscience 290: 300-320.

  • Little, D., Valori, C.F., Mutsaers, C.A., Bennett, E.J., Wyles, M., Shaw, P.J., Gillingwater, T.H., Azzouz, M. & Ning, K. (2015) PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy. Molecular Therapy 23: 270-277.

  • Aghamaleky Sarvestany, A., Hunter, G., Tavendale, A., Lamont, D.J., Llavero Hurtado, M., Graham, L.C., Wishart, T.M. & Gillingwater, T.H. (2014) Label-free quantitative proteomic profiling identifies disruption of ubiquitin homeostasis as a key driver of Schwann cell defects in spinal muscular atrophy.Journal of Proteome Research 13: 4546-4557.

  • Powis, R.A., Mutsaers, C.A., Wishart, T.M., Hunter, G., Wirth, B. & Gillingwater, T.H. (2014) Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target. Neuropathology & Applied Neurobiology 40:873-887.

  • Hunter, G., Roche, S.L., Somers, E., Fuller, H. & Gillingwater, T.H. (2014) The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: implications for pre-clinical studies and clinical trials for spinal muscular atrophy. Neuromuscular Disorders 24: 973-977.

  • Eaton, S.L., Llavero Hurtado, M., Oldknow, K., Graham, L.C., Marchant, T.W., Gillingwater, T.H.,Farquharson, C. & Wishart, T.M. (2014) A guide to modern quantitative fluorescent western blotting with troubleshooting strategies. Journal of Visualized Experiments: JoVE 93: e52099.

  • Roche, S.L., Sherman, D.L., Dissanayake, K., Soucy, G., Desmazieres, A., Lamont, D.J., Peles, E., Julien, J-P., Wishart, T.M., Ribchester, R.R., Brophy, P.J. & Gillingwater, T.H. (2014) Loss of Glial Neurofascin155 Delays Developmental Synapse Elimination at the Neuromuscular Junction. Journal of Neuroscience 34: 12904-12918.

  • Wishart, T.M., Mutsaers, C.A., Riessland, M., Reimer, M.R., Hunter, G., Hannam, M.L., Eaton, S., Fuller, H.R., Roche, S.L., Somers, E., Morse, R., Young, P.J., Lamont, D.J., Hammerschmidt, M., Joshi, A., Hohenstein, P., Morris, G.E., Parson, S.H., Skehel, P.A., Becker, T., Robinson, I.M., Becker, C.G., Wirth, B. & Gillingwater, T.H. (2014) Dysregulation of ubiquitin homeostasis and β-catenin signalling promote spinal muscular atrophy. Journal of Clinical Investigation 124: 1821-1834. 

  • Hunter, G., Aghamaleky Sarvestany, A., Roche, S.L., Symes, R.C. & Gillingwater, T.H. (2014) SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy. Human Molecular Genetics 23: 2235-2250.

  • Carpanini, S.M., McKie, L., Thomson, D., Wright, A.K., Gordon, S., Roche, S.L., Handley, M., Morrison, H., Brownstein, D., Wishart, T.M., Cousin, M.A., Gillingwater, T.H*, Aligianis, I.A. & Jackson, I.I.* (2014) A Novel Mouse Model of Warburg Micro Syndrome Reveals Roles for RAB18 in Eye Development and Organisation of the Neuronal Cytoskeleton. Disease Models & Mechanisms 7: 711-722. *Joint corresponding authors

  • Sleigh, J.N., Burgess, R.W., Gillingwater, T.H. & Cader, Z. (2014) Morphological analysis of neuromuscular junction development and degeneration in rodent lumbrical muscles. Journal of Neuroscience Methods 227: 159-165.

  • Truman, R., Ebenezer, G.J., Pena, M., Sharma, R., Balamayooran, G., Lahiri, R., Gillingwater, T.H.,Scollard, D., McArthur, J. & Rambukkana, A. (2014) The armadillo as a model for peripheral neuropathy in leprosy. ILAR Journal 54: 304-314.

  • Murray, L.M., Gillingwater, T.H. & Kothary, R. (2014) Dissection of the transversus abdominis muscle for whole-mount neuromuscular junction analysis. Journal of Visualized Experiments: JoVE 83:e51162.