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Dr Agnes Nishimura, PhD in Human Genetics BSc Biological Sciences FHEA

Agnes

Lecturer in Neuroscience

Email: a.nishimura@qmul.ac.uk
Telephone: 020 7882 2685
Twitter: @NishimuraAgnes

Profile

Dr. Agnes Nishimura graduated in Biological Sciences from the University of Sao Paulo, Brazil. She completed her PhD in human genetics at the same institution under the supervision of Prof. Mayana Zatz. During her PhD, she discovered a mutation in the vesicle-associated membrane protein-associated protein B (VAPB) gene that causes an atypical form of amyotrophic lateral sclerosis (ALS) in the Brazilian population. This mutation is the most common form of familial ALS in Southeast Brazil.

After completing her PhD, she moved to London to continue her career in ALS research. She worked with Prof. Christopher Shaw at King's College London, where she continued to focus on the genetics of ALS and contributed to identifying another gene associated with ALS, the fused-in sarcoma (FUS) gene. For the past few years, she has been working on creating a biobank of induced pluripotent stem cells (iPSCs) generated from ALS patients. Her lab at Queen Mary University of London (QMUL) is dedicated to studying ALS by using iPSCs to model the disease.

Orcid: https://orcid.org/0000-0001-5295-797X

Linkedin: linkedin.com/in/agnesnishimura

Teaching

  • BMD265 - Systems Neuroscience – co-convener
  • ICMM929 - Neurodegeneration – co-convener
  • ICMM932 - Research project – module lead
  • ICMM132 - Research skills and methodology - lecturer
  • ICMM926 - Drug Discovery - lecturer
  • ICM7144 - Tissue Specific Stem Cells - lecturer
  • ICM7145 - Stem Cell module - lecturer

Research

Research Interests:

Dr Nishimura research focus on neurodegeneration, in particular motor neurone disease (MND). She is interested in identifying disease mechanisms using induced pluripotent stem cells, as well as other cellular models.

Specific areas of interest:

  • Understanding human diseases (From genes to proteins)
  • Genetics of neurodegenerative diseases
  • Stem cells research
    •   Disease modelling using induced pluripotent stem cells
    •   2D and organoids
  • mRNA dysregulation
  • Vesicular transport
  • Protein misfolding and clearance
  • Stress and inflammation
  • Snaptopathy
  • Drug screening

Publications


1.    Shum, C., Hedges, E.C., Allison, J., Lee, Y-B., Arias, N., Cocks, G., Chandran, S., Ruepp, M-D., Shaw, C.E., Nishimura, A.L. (2023). Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons. Stem Cell Reports. https://doi.org/10.1016/j.stemcr.2023.12.007 (In Press).

2.    Hedges, E. C., Cocks, G., Shaw, C. E., & Nishimura, A. L. (2023). Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling. Genes, 14(5), 1108. https://doi.org/10.3390/genes14051108

3.    Nishimura, A. L., Zupunski, V., Troakes, C., Kathe, C., Fratta, P., Howell, M., Gallo, J. M., Hortobágyi, T., Shaw, C. E., & Rogelj, B. (2010). Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration. Brain : a journal of neurology, 133(Pt 6), 1763–1771. https://doi.org/10.1093/brain/awq111

4.    Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Ganesalingam, J., Williams, K. L., Tripathi, V., Al-Saraj, S., Al-Chalabi, A., Leigh, P. N., Blair, I. P., Nicholson, G., de Belleroche, J., Gallo, J. M., … Shaw, C. E. (2009). Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science (New York, N.Y.), 323(5918), 1208–1211. https://doi.org/10.1126/science.1165942

5.    Nishimura, A. L., Mitne-Neto, M., Silva, H. C., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J. R., Gillingwater, T., Webb, J., Skehel, P., & Zatz, M. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American journal of human genetics, 75(5), 822–831. https://doi.org/10.1086/425287

QMUL publications page:
https://www.qmul.ac.uk/blizard/all-staff/profiles/agnes-nishimura.html

 

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