Sally Spendiff

Research Associate, CHEO Research Institute

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Sally completed her PhD in the Mitochondrial Research Group in Newcastle, UK in 2012 under the supervision of Professors Doug Turnbull and Hanns Lochmüller. Her thesis examined the presence of mitochondrial DNA deletions in muscle stem cells (satellite cells) in patients with mitochondrial myopathies.

Following her PhD, she moved across the Atlantic to Montreal to begin what would be a 4-year post-doctoral position with Professors Tanja Taivassalo and Russell Hepple, at first at McGill University and then at the McGill University Health Centre. Initially she worked on projects examining the role of mitochondria in clinical conditions (e.g COPD) and ageing, and later moved on to explore the role of neuromuscular junction (NMJ) stability in ageing. In 2016 she returned to the UK and Newcastle to work with Professor Lochmüller on a project to test novel treatments for patients with congenital myasthenic syndromes (disorders of the NMJ).

Sally is extremely excited to have returned to Canada and to be helping Professor Lochmüller set up his lab in Ottawa.

Sally Spendiff

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Recent publications

Lam, DD, Williams, RH, Lujan, E, Tanabe, K, Huber, G, Saw, NL et al.. Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation. J Neurosci. 2022.42 (8)1557-1573 PMID:34965974

Manta, A, Spendiff, S, Lochmüller, H, Thompson, R. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. J Neuromuscul Dis. 2021.8 (3)401-417 PMID:33720849

Spendiff, S, Howarth, R, McMacken, G, Davey, T, Quinlan, K, O'Connor, E et al.. Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome. Front Mol Neurosci. 2020.13 594220 PMID:33390901

Thompson, R, Spendiff, S, Roos, A, Bourque, PR, Warman Chardon, J, Kirschner, J et al.. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol. 2020.19 (6)522-532 PMID:32470424

O'Connor, E, Cairns, G, Spendiff, S, Burns, D, Hettwer, S, Mäder, A et al.. Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish. Cells. 2019.8 (8) PMID:31394789

McMacken, GM, Spendiff, S, Whittaker, RG, O'Connor, E, Howarth, RM, Boczonadi, V et al.. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome. Hum Mol Genet. 2019.28 (14)2339-2351 PMID:31220253

Cipriani, S, Phan, V, Médard, JJ, Horvath, R, Lochmüller, H, Chrast, R et al.. Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. Int J Mol Sci. 2018.19 (12) PMID:30562927

Phan, V, Cox, D, Cipriani, S, Spendiff, S, Buchkremer, S, O'Connor, E et al.. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. Neurobiol Dis. 2019.124 218-229 PMID:30468864

Issop, Y, Hathazi, D, Khan, MM, Rudolf, R, Weis, J, Spendiff, S et al.. GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. Hum Mol Genet. 2018.27 (18)3218-3232 PMID:29905857

O'Connor, E, Töpf, A, Zahedi, RP, Spendiff, S, Cox, D, Roos, A et al.. Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Ann N Y Acad Sci. 2018.1412 (1)102-112 PMID:29315608

McMacken, G, Abicht, A, Evangelista, T, Spendiff, S, Lochmüller, H. The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes. Neuropediatrics. 2017.48 (4)294-308 PMID:28505670

Spendiff, S, Reza, M, Murphy, JL, Gorman, G, Blakely, EL, Taylor, RW et al.. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies. Hum Mol Genet. 2013.22 (23)4739-47 PMID:23847047

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