Centre for Integrative Physiology

Prof Tom Gillingwater

Research in the Gillingwater lab focuses on understanding cellular and molecular mechanisms that regulate the form and function of the nervous system in health and disease.

Tom Gillingwater

Professor of Anatomy

  • Hugh Robson Building
  • 15 George Square
  • Edinburgh EH8 9XD

Contact details

Personal profile

  • Chair of Anatomy (2015-present), University of Edinburgh
  • Professor of Neuroanatomy (2010-2015), University of Edinburgh
  • Senior Lecturer in Anatomy (2008-2010), University of Edinburgh
  • Lecturer in Anatomy (2004-2008), University of Edinburgh
  • MBA, University of Edinburgh (2006)
  • PhD in Neuroscience, University of Edinburgh (2001)
  • BSc (Hons) in Human Biology (Anatomy), University of Leeds (1998)
  • Editor-in-Chief: Journal of Anatomy (2011-present; Receiving Editor 2008-2011)
  • Academic Editor: PLoS One (2011- present)
  • Fellow of the Royal Society of Biology (Elected 2016)

  • Fellow of the Anatomical Society (Elected 2012)
  • Fellow of the Royal Microscopical Society (Elected 2005)
  • Member of the Institute of Directors (Elected 2011)
  • Teaching Responsibilities: Gross Human Anatomy and Neuroanatomy (MBChB & MSc Human Anatomy) and Course Director for Anatomy & Pathology 2 (BSc Medical Sciences)


Prof. Tom Gillingwater's research briefing

Electron micrograph of a control neuromuscular junction

Research in the Gillingwater lab 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 axonal and synaptic compartments across a range of different neurodegenerative conditions (from motor neuron disease through to Alzheimer’s disease, lysosomal storage disorders, and Huntington’s disease); and iii) developing novel imaging strategies for visualising the human nervous system in vivo.


  • Anatomical Society
  • Biotechnology and Biological Sciences Research Council (BBSRC)
  • Birth Defects Foundation (BDF) Newlife
  • Euan MacDonald Centre for Motor Neurone Disease Research
  • GlaxoSmithKline plc (GSK)
  • MND Scotland
  • Muscular Dystrophy UK
  • SMA Trust
  • Sylvia Aitken Charitable Trust
  • Wellcome Trust
  • AxonomiX EU Network

Team members

  • Dr Yu-Ting Huang (Postdoctoral Researcher)
  • Dr Helen Newbury (Postdoctoral Researcher)
  • Ines Amorim (PhD student)
  • Dr Penelope Boyd (Postdoctoral Researcher)
  • Dr Ewout Groen (Postdoctoral Researcher)
  • Ross Jones (PhD student)
  • Dr Fiona Lane (Postdoctoral Researcher)
  • Rachael Powis (PhD student)
  • Hannah Shorrock (PhD student)
  • Ghazi Alanazi (PhD student)
  • Derek Thomson
  • Leire Ledahawsky (PhD student)


  • J Cooper – Institute of Psychiatry, King’s College London
  • M Freeman – University of Massachusetts
  • D Lamont – Dundee University
  • I Robinson – University of Plymouth
  • K Talbot – University of Oxford
  • B Wirth – University of Cologne

Selected recent publications

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 In Press.

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 In Press.

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.

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

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.

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. Journal of Clinical Investigation Insight 1: e87908.

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.

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

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. 

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

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.

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.

Pettit, L.D., Bastin, M.E., Smith, C., Bak, T.H., Gillingwater, T.H. & Abrahams, S. (2013) Executive deficits, not processing speed relates to abnormalities in distinct prefrontal tracts in amyotrophic lateral sclerosis. Brain 136: 3290-3304.

Mutsaers, C.A., Lamont, D.J., Hunter, G., Wishart, T.M. & Gillingwater, T.H. (2013) Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy. Genome Medicine 5: 95.

Kay, K., Smith, C., Wright, A.K., Serrano-Pozo, A., Pooler, A., Koffie, R., Bastin, M.E., Bak, T.H., Abrahams, S., Kopeikina, K.J., Frosch, M., Gillingwater, T.H., Hyman, B.T. & Spires-Jones, T.L. (2013) Studying synapses in human brain with array tomography and electron microscopy. Nature Protocols 8: 1366-1380.

Simpson, A.H., Gillingwater, T.H., Anderson, H., Cottrell, D., Sherman, D.L., Ribchester, R.R. & Brophy, P.J. (2013) Effect of limb lengthening on internodal length and conduction velocity of peripheral nerve. Journal of Neuroscience 33: 4536-4539.

Hamilton, G. & Gillingwater, T.H. (2013) Spinal muscular atrophy: going beyond the motor neuron. Trends in Molecular Medicine 19: 40-50.

Wishart, T.M., Rooney, T., Lamont, D.J., Wright, A.K., Morton, A.J., Jackson, M., Freeman, M.R. & Gillingwater, T.H. (2012) Combining Comparative Proteomics and Molecular Genetics Uncovers Regulators of Synaptic and Axonal Stability and Degeneration In Vivo. PLoS Genetics 8: e1002936.

Avery, M., Rooney, T.M., Pandya, J.D., Wishart, T.M., Gillingwater, T.H., Geddes, J.W., Sullivan, P. & Freeman, M.R. (2012) WldS prevents axon degeneration through increased mitochondrial flux and enhanced mitochondrial Ca2+ buffering. Current Biology 22: 596-600.

Till, S.M., Wijetunge, L.S., Seidel, V.G., Harlow, E., Wright, A.K., Bagni, C., Contractor, A., Gillingwater, T.H. & Kind, P.C. (2012) Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome. Human Molecular Genetics 21: 2143-2156.

Mutsaers, C.A., Wishart, T.M., Lamont, D.J., Riessland, M., Comley, L.H., Murray, L.M., Parson, S.H., Lochmüller, H., Wirth, B., Talbot, K. & Gillingwater, T.H. (2011) Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Human Molecular Genetics 20: 4334-4344.  

Comley, L.H., Fuller, H.R., Wishart, T.M., Mutsaers, C.A., Thomson, D., Wright, A.K., Ribchester, R.R., Morris, G.E., Parson, S.H., Horsburgh, K. & Gillingwater, T.H. (2011) ApoE isoform-specific regulation of regeneration in the peripheral nervous system. Human Molecular Genetics 20: 2406-2421.

Patani, R., Hollins, A.J., Wishart, T.M., Puddifoot, C.A., Alvarez, S., de Lera, A.R., Wyllie, D.J.A., Compston, D.A.S., Pedersen, R.A., Gillingwater, T.H., Hardingham, G.E., Allen, N.D & Chandran, S. (2011) Retinoid independent motor neurogenesis from human embryonic stem cells reveals a medial columnar ground state. Nature Communications 2: 214.

Tom Gillingwater's publication profile