I am a ribonucleic acid (RNA) Biochemist interested in gene expression in health and disease with a specific focus on dysfunctional RNA metabolism in neurodegeneration. My main research objective is to uncover the impact and contribution of altered RNA metabolism on selective neuronal death in amyotrophic lateral sclerosis and fronto-temporal dementia. Apart from my position as Senior Lecturer at King’s College London, I am also a fellow of the United Kingdom Dementia Research Institute and currently one of the Academic Mentors for the PhD students in the Department of Basic & Clinical Neuroscience.

Please see my Research Staff Profile for more detail.

Key Publications:

• Loughlin et al., 2019. The Solution Structure of FUS Bound to RNA Reveals a Bipartite Mode of RNA Recognition with Both Sequence and Shape Specificity. Mol Cell.
• Reber et al., 2018. CRISPR-Trap: a clean approach for the generation of gene knockouts and gene replacements in human cells. Molecular Biology of the Cell.
• Jutzi et al., 2018. The emerging role of minor intron splicing in neurological disorders. Cell Stress.
• Reber et al., 2016. Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants. The EMBO Journal.
• Raczynska et al., 2015. FUS/TLS contributes to replication-dependent histone gene expression by interaction with U7 snRNPs and histone-specific transcription factors. Nucleic Acids Res. 

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Key Collaborators:

• Professor Chris Shaw, King's College London
• Dr. Caroline Vance, King's College London
• Professor Frederic Allain, ETH Zuerich
• Dr. Sarah Mizielinska, King's College London