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Personal profile

Research Interests

My research interests are centered on elucidating the pathogenic mechanisms which drive synaptopathies and proteinopathies in the mammalian nervous system. As a first step, we use reductionist biochemical approaches with discovery-based proteomic analysis to generate unbiased hypothesizes. Next, we test and characterize candidate proteins and pathways for potential functional relevance with molecular approaches. Ultimately, the goal of my research is to identify keystone proteins and proteomes as potential therapeutic targets to hopefully ameliorate neurodevelopmental and degenerative diseases.

Training Experience

2015Postdoctoral Fellowship, Scripps Research Institute

Education/Academic qualification

PhD, New York University, School of Medicine

… → 2009

Research interests

  • Alzheimer's Disease
  • Autism Spectrum Disorders
  • Biochemistry: Proteins
  • Neuroscience
  • Proteomics
  • Schizophrenia

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  • Research Output

    • 3871 Citations
    • 53 Article
    • 3 Comment/debate
    • 3 Review article
    • 1 Short survey

    Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity

    Ortega, J. A., Daley, E. L., Kour, S., Samani, M., Tellez, L., Smith, H. S., Hall, E. A., Esengul, Y. T., Tsai, Y. H., Gendron, T. F., Donnelly, C. J., Siddique, T., Savas, J. N., Pandey, U. B. & Kiskinis, E., Apr 8 2020, In : Neuron. 106, 1, p. 90-107.e13

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Catacomb: An endogenous inducible gene that antagonizes H3K27 methylation activity of Polycomb repressive complex 2 via an H3K27M-like mechanism

    Piunti, A., Smith, E. R., Morgan, M. A. J., Ugarenko, M., Khaltyan, N., Helmin, K. A., Ryan, C. A., Murray, D. C., Rickels, R. A., Yilmaz, B. D., Rendleman, E. J., Savas, J. N., Singer, B. D., Bulun, S. E. & Shilatifard, A., Jan 1 2019, In : Science Advances. 5, 7, eaax2887.

    Research output: Contribution to journalArticle

    Open Access
  • 5 Scopus citations

    Critical period inhibition of NKCC1 rectifies synapse plasticity in the somatosensory cortex and restores adult tactile response maps in fragile X mice

    He, Q., Arroyo, E. D., Smukowski, S. N., Xu, J., Piochon, C., Savas, J. N., Portera-Cailliau, C. & Contractor, A., Nov 1 2019, In : Molecular Psychiatry. 24, 11, p. 1732-1747 16 p.

    Research output: Contribution to journalArticle

  • 7 Scopus citations

    Long-lived metabolic enzymes in the crystalline lens identified by pulse-labeling of mice and mass spectrometry

    Liu, P., Edassery, S. L., Ali, L., Thomson, B. R., Savas, J. N. & Jin, J., Dec 2019, In : eLife. 8, e50170.

    Research output: Contribution to journalArticle

    Open Access
  • 2 Scopus citations

    Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function

    Kim, J. J., Savas, J. N., Miller, M. T., Hu, X., Carromeu, C., Lavallée-Adam, M., Freitas, B. C. G., Muotri, A. R., Yates, J. R. & Ghosh, A., Feb 2019, In : PloS one. 14, 2, e0212553.

    Research output: Contribution to journalArticle

    Open Access
  • 4 Scopus citations