My interest is in diseases of cholinergic neuromuscular and autonomic synapses, such as myasthenia gravis and congenital myasthenic syndrome. Our aim is to understand the pathological basis for these diseases at a molecular level and to define new therapeutic targets for the treatment of these disorders.
My research interest is in understanding the cellular and molecular basis of synapse formation in the mammalian nervous system. Synapse formation is critical for the formation, maintenance and plasticity of the nervous system and perturbations in synaptic structure and function have been implicated in a range of neurological disorders.
My research focuses on cholinergic synapses that play critical roles in the functioning of both the peripheral and central nervous systems. Our main aims are (1) to define the extracellular synaptogenic factors that regulate the formation and maintenance of neuromuscular and neuronal autonomic synapses in the PNS; (2) to define the intracellular mechanisms that regulate the trafficking and localization of nicotinic acetylcholine receptors at these synapses; and (3) to establish how defects in synapse formation or receptor localization contribute to neurological diseases such as myasthenia gravis and congenital myasthenic syndromes. This includes collaborative studies with clinician-scientists at UCDavis.
Ph.D., University of Western Australia, Perth, Crawley, 1988
B.Sc., University of Otago, Dunedin, 1983
Select Recent Publications
Chang Rudell, J., Borges, LS., Rudell, JB., Beck, KA., and Ferns, MJ. Determinants in the beta and delta subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. J Biol Chem. 2014;289(1):203-214.
Rudell, JB., and Ferns, MJ. Regulation of muscle acetylcholine receptor turnover by beta subunit tyrosine phosphorylation. Dev Neurobiol. 2013;73(5):399-410.
Maselli, RA., Fernandez, JM., Arredondo, J., Navarro, C., Ngo, M., Beeson, D., Cagney, O., Williams, DC., Wollmann, RL., and Yarov-Yarovoy, V., and Ferns, M. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Human Genetics. 2012;131(7): 1123-35.
Richman DP, Nishi K, Morell SW, Chang JM, Ferns MJ, Wollmann RL, Maselli RA, Schnier J, Agius MA. Acute Severe Animal Model of Anti-Muscle-Specific Kinase Myasthenia: Combined Postsynaptic and Presynaptic Changes. Arch Neurol. 2012;69(4): 453-60.
Lee Y, Rudell J, and Ferns M Rapsyn interacts with the muscle AChR via a-helical domains in the a, b, and e subunit intracellular loops. Neuroscience. 2009;163: 222-232.
Borges LS, Yechikhov S, Lee YI, Rudell JB, Friese MB, Burden SJ, Ferns MJ Identification of a motif in the acetylcholine receptor beta subunit whose phosphorylation regulates rapsyn association and postsynaptic receptor localization. J Neurosci. 2008;28:11468-11476.
Gingras, J., Rassadi, S., Cooper, E., and Ferns, M. Synaptic transmission is impaired at neuronal autonomic synapses in agrin null mice. Dev Neurobiol. 2007;67(5): 521-534.
Gingras, J., Rassadi, S., Cooper, E., & Ferns, M. Agrin plays an organizing role in the formation of sympathetic synapses. J Cell Biol. 2002;158(6): 1109-1118.
Borges, L., & Ferns, M. Agrin-induced phosphorylation of the acetylcholine receptor regulates cytoskeletal anchoring and clustering. J Cell Biol. 2001;153: 1-11.