Thomas H Gillingwater


Affiliation: University of Edinburgh
Country: UK


  1. Hunter G, Powis R, Jones R, Groen E, Shorrock H, Lane F, et al. Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy. Hum Mol Genet. 2016;25:2853-2861 pubmed
  2. Carpanini S, McKie L, Thomson D, Wright A, Gordon S, Roche S, et al. A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. Dis Model Mech. 2014;7:711-22 pubmed publisher
  3. Chaytow H, Huang Y, Gillingwater T, Faller K. The role of survival motor neuron protein (SMN) in protein homeostasis. Cell Mol Life Sci. 2018;: pubmed publisher
    ..In this review, we summarise these diverse functions of SMN, confirming its key role in maintenance of the homeostatic environment of the cell. ..
  4. request reprint
    Gillingwater T, Wishart T, Chen P, Haley J, Robertson K, MacDonald S, et al. The neuroprotective WldS gene regulates expression of PTTG1 and erythroid differentiation regulator 1-like gene in mice and human cells. Hum Mol Genet. 2006;15:625-35 pubmed
    ..Targeting Wld(S)-induced gene expression may lead to novel therapies for neurodegeneration induced by trauma or by disease in humans. ..
  5. Roche S, Sherman D, Dissanayake K, Soucy G, Desmazieres A, Lamont D, et al. Loss of glial neurofascin155 delays developmental synapse elimination at the neuromuscular junction. J Neurosci. 2014;34:12904-18 pubmed publisher
    ..Together, our study reveals a glial cell-dependent pathway regulating the sculpting of neuronal connectivity and synaptic circuitry in the peripheral nervous system. ..
  6. Groen E, Gillingwater T. UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration. Trends Mol Med. 2015;21:622-32 pubmed publisher
  7. Jones R, Reich C, Dissanayake K, Kristmundsdottir F, Findlater G, Ribchester R, et al. NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction. Open Biol. 2016;6: pubmed
    ..Systematic differences in synaptic morphology predicted corresponding differences in synaptic function that were supported by physiological recordings, confirming the robust relationship between synaptic size and strength. ..
  8. Amorim I, Graham L, Carter R, Morton N, Hammachi F, Kunath T, et al. Sideroflexin 3 is an α-synuclein-dependent mitochondrial protein that regulates synaptic morphology. J Cell Sci. 2017;130:325-331 pubmed publisher
    ..We also identify SFXN3 as a new mitochondrial protein capable of regulating synaptic morphology in vivo. ..
  9. Bernabò P, Tebaldi T, Groen E, Lane F, Perenthaler E, Mattedi F, et al. In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology. Cell Rep. 2017;21:953-965 pubmed publisher
    ..This was further supported by a decrease in the number of ribosomes in SMA motor neurons in vivo. Overall, our findings suggest ribosome biology as an important, yet largely overlooked, factor in motor neuron degeneration. ..

More Information


  1. Jones R, Harrison C, Eaton S, Llavero Hurtado M, Graham L, Alkhammash L, et al. Cellular and Molecular Anatomy of the Human Neuromuscular Junction. Cell Rep. 2017;21:2348-2356 pubmed publisher
    ..Taken together, these findings reveal human-specific cellular and molecular features of the NMJ that distinguish them from comparable synapses in other mammalian species. ..