Lecturer in Neuroscience and Genetics
Univerisity College Dublin
I am using Drosophila models of neurodegenerative disorders to better understand the molecular underpinnings of the associated diseases.
My research lab investigates the molecular mechanisms underlying neurodegeneration in human disorders. In particular, I am interested in the role of endoplasmic reticulum (ER)-shaping proteins in motor neuron axons and how loss of these proteins may give rise to neurodegeneration.
Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disorder in which the long axonal tracts in the cortical spinal tract degenerate. Pathogenic mutations in ER-shaping proteins are the leading cause of HSP, pointing to a crucial role for these proteins, and the smooth ER which they shape, in axonal maintenance. However, the mechanism(s) by which disruption of smooth ER in long motor neurons gives rise to neurodegeneration in HSP has not been extensively studied axons in vivo.
Fowler P, O’Sullivan NC (2016) ‘ER-shaping proteins are required for ER and mitochondrial network organisation in motor neurons’. Human Molecular Genetics, 25 (13):2817-2837
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