Dr Sarah Mizielinska PhD

Biography

My research group investigates how dysfunctional transport between the nucleus and cytoplasm (nucleocytoplasmic transport) can initiate neurodegeneration in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We are particularly interested in the most common genetic mutation in these diseases – C9orf72, and the most common protein found in aggregates in these diseases (and across many dementias) TDP-43. We investigate this using quantitative microscopy techniques, developing novel super-resolution methodologies for monitoring single molecule nucleocytoplasmic transport and assessing the phase transitioning properties of the nuclear pore. Much of this work is associated with my role as a Programme Leader at the UK Dementia Research Institute and I also participate in undergraduate/postgraduate teaching and co-lead a module in an online distance learning MSc.

Please see my Research Staff Profile for more detail

Find out more about my research:

• Sarah Mizeielinska
• UK DRI 

Key publications:

• Mizielinska et al., 2017. Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration. Acta Neuropathalogica Communications.
• Clayton et al., 2015. Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology. Acta Neuropathologica.
• Mizielinska et al., 2014. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science.
• Mizielinska et al., 2013. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathalogica.
• Fratta et al., 2012. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Scientific Reports.

View all publications

Key collaborators:

• Dr Marc-David Ruepp, King's College London
• Prof Adrian Isaacs, University College London
• Prof Chris Shaw, King's College London
• Prof Annalisa Pastore, King's College London