Emily O’Connor

Postdoctoral Research Fellow

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Emily completed her PhD at Newcastle University, UK, in 2019 under the supervision of Professors Hanns Lochmüller and Clarke Slater. Prior to this she completed an MSci degree during which she examined genetic data from patients and identified a novel causative gene for a subtype of the rare group of diseases Congenital Myasthenic Syndromes (CMS). Subsequently, in her PhD project she researched the role of the gene and its associated protein at the neuromuscular junction. After successfully defending her thesis in June 2019 and obtaining a postdoctoral research fellowship from AFM-Téléthon, she moved to Ottawa to take up a position in the Lochmüller lab. Emily is looking forward to starting new projects aimed toward testing new treatments for CMS and other neuromuscular diseases as part of new collaborations.


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Recent publications

Núñez-Carpintero, I, Rigau, M, Bosio, M, O'Connor, E, Spendiff, S, Azuma, Y et al.. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nat Commun. 2024.15 (1)1227 PMID:38418480

Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023.14 (1)1009 PMID:36823193

Jacquier, A, Risson, V, Simonet, T, Roussange, F, Lacoste, N, Ribault, S et al.. Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons. Acta Neuropathol. 2022.144 (4)707-731 PMID:35948834

Hathazi, D, Cox, D, D'Amico, A, Tasca, G, Charlton, R, Carlier, RY et al.. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021.144 (8)2427-2442 PMID:33792664

Grande, V, Hathazi, D, O'Connor, E, Marteau, T, Schara-Schmidt, U, Hentschel, A et al.. Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis. 2021.8 (4)603-619 PMID:33682722

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

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

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

O'Connor, E, Phan, V, Cordts, I, Cairns, G, Hettwer, S, Cox, D et al.. MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion. Hum Mol Genet. 2018.27 (8)1434-1446 PMID:29462312

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

Boyle, KA, Gutierrez-Mecinas, M, Polgár, E, Mooney, N, O'Connor, E, Furuta, T et al.. A quantitative study of neurochemically defined populations of inhibitory interneurons in the superficial dorsal horn of the mouse spinal cord. Neuroscience. 2017.363 120-133 PMID:28860091

O'Connor, E, Töpf, A, Müller, JS, Cox, D, Evangelista, T, Colomer, J et al.. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain. 2016.139 (Pt 8)2143-53 PMID:27259756

Khan, MM, Lustrino, D, Silveira, WA, Wild, F, Straka, T, Issop, Y et al.. Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease. Proc Natl Acad Sci U S A. 2016.113 (3)746-50 PMID:26733679

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