Sarah Mizielinska

sarah.mizielinska@kcl.ac.uk

SMizielinska

Website

Research Interests

My research group primarily investigates how dysfunctional transport between the nucleus and cytoplasm (nucleocytoplasmic transport) can initiate neurodegeneration and how this interacts with other pathways 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.

Most significant discovery

Unveiling dipeptide repeat protein toxicity (2014) and identifying molecular mechanisms nucleocytoplasmic transport using novel single molecule imaging and assessment of the phase behaviour of the nuclear pore selection barrier in C9orf72-FTD/ALS

Educational Interests

• Sharing expertise in neurodegeneration (UG/PG)
• Training PGRs in multidisciplinary approaches for the
study of neurodegeneration
• Supporting the mental wellbeing and academic
progress of PGRs

Top 4 Publications

• Solomon et al., Front Cell Neurosci, 15: 21 (2021)
• Moens, Mizielinska et al., Acta Neuropathol, 135(3):445-457 (2018)
• Mizielinska et al., Acta Neuropath Comms, 5(1):29 (2017)
• Mizielinska et al., Science, 345(6201): 1192-1194 (2014)

Methods / Expertise

• C9ORF72 pathomechanisms
• Wide range of microscopy methods (standard, super-resolution, single molecule, high throughput, human pathology)
• Study of phase separation in vitro