• 3881 Citations

Research output per year

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Personal profile

Research Interests

We are investigating cellular self-renewal mechanisms, amyloid formation in the brain, and the relationship of these processes to neurodegeneration and aging. We primarily use human neurons made from induced pluripotent stem cells as well as in vitro protein aggregation models to delineate the pathogenic mechanisms of age-related neurodegenerative diseases such as Alzheimer’s and Parkinson’s disease. Our group is largely focused on utilizing neurons from rare lysosomal diseases to study how alterations in biomolecule degradation pathways influence the accumulation and conformation of disease-linked proteins such as alpha-synuclein, abeta, and tau. Mechanistic insights gained from studies of rare lysosomal diseases are used as a way to view and elucidate the pathological mechanisms of common neurodegenerative diseases. Another major effort of the lab is to determine how amyloid formation influences cellular self-renewal mechanisms in neurons, such as lysosomal clearance of damaged macromolecules, and the effect on the aging process. We use the following techniques and model systems: - Differentiation of induced pluripotent stem cells into midbrain dopamine neurons to model both rare and common neurodegenerative diseases. - Analytic biochemical techniques, such as HPLC and size exclusion chromatography, to study protein accumulation and misfolding in neurons. - Analysis of protein and lipid degradation pathways in neurons with a focus on the autophagic-lysosomal clearance system by a variety of biochemical and cell biological techniques - Primary neuronal cultures and transgenic mice to study the effect of metabolic pathways on protein accumulation and aging. - Recombinant protein purification of disease-related proteins to study conformational changes in cell-free in vitro systems.

Training Experience

2012Postdoctoral Fellowship, Massachusetts General Hospital, Harvard Medical School

Education/Academic qualification

PhD, University of Pennsylvania

… → 2008

Research interests

  • Aging
  • Dementia
  • Frontotemporal Dementia
  • Lipid Disorders
  • Metabolism
  • Neuroscience
  • Parkinson’s Disease
  • Proteins / Macromolecules

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  • Research Output

    • 3881 Citations
    • 30 Article
    • 3 Review article
    • 2 Chapter

    Dysregulation of the autophagic-lysosomal pathway in Gaucher and Parkinson's disease

    Pitcairn, C., Wani, W. Y. & Mazzulli, J. R., Feb 2019, In : Neurobiology of Disease. 122, p. 72-82 11 p.

    Research output: Contribution to journalReview article

  • 18 Scopus citations

    Increased Lysosomal Exocytosis Induced by Lysosomal Ca2+ Channel Agonists Protects Human Dopaminergic Neurons from α-Synuclein Toxicity

    Tsunemi, T., Perez-Rosello, T., Ishiguro, Y., Yoroisaka, A., Jeon, S., Hamada, K., Rammonhan, M., Wong, Y. C., Xie, Z., Akamatsu, W., Mazzulli, J., Surmeier Jr, D. J., Hattori, N. & Krainc, D., Jul 17 2019, In : The Journal of neuroscience : the official journal of the Society for Neuroscience. 39, 29, p. 5760-5772 13 p.

    Research output: Contribution to journalArticle

  • 12 Scopus citations

    Modeling neuronopathic storage diseases with patient-derived culture systems

    Zunke, F. & Mazzulli, J., Jul 1 2019, In : Neurobiology of Disease. 127, p. 147-162 16 p.

    Research output: Contribution to journalReview article

  • 1 Scopus citations

    Patient-customized oligonucleotide therapy for a rare genetic disease

    Kim, J., Hu, C., El Achkar, C. M., Black, L. E., Douville, J., Larson, A., Pendergast, M. K., Goldkind, S. F., Lee, E. A., Kuniholm, A., Soucy, A., Vaze, J., Belur, N. R., Fredriksen, K., Stojkovska, I., Tsytsykova, A., Armant, M., DiDonato, R. L., Choi, J., Cornelissen, L. & 28 others, Pereira, L. M., Augustine, E. F., Genetti, C. A., Dies, K., Barton, B., Williams, L., Goodlett, B. D., Riley, B. L., Pasternak, A., Berry, E. R., Pflock, K. A., Chu, S., Reed, C., Tyndall, K., Agrawal, P. B., Beggs, A. H., Grant, P. E., Urion, D. K., Snyder, R. O., Waisbren, S. E., Poduri, A., Park, P. J., Patterson, A., Biffi, A., Mazzulli, J. R., Bodamer, O., Berde, C. B. & Yu, T. W., Oct 24 2019, In : New England Journal of Medicine. 381, 17, p. 1644-1652 9 p.

    Research output: Contribution to journalArticle

  • 43 Scopus citations

    Stress-Induced Cellular Clearance Is Mediated by the SNARE Protein ykt6 and Disrupted by α-Synuclein

    Cuddy, L. K., Wani, W. Y., Morella, M. L., Pitcairn, C., Tsutsumi, K., Fredriksen, K., Justman, C. J., Grammatopoulos, T. N., Belur, N. R., Zunke, F., Subramanian, A., Affaneh, A., Lansbury, P. T. & Mazzulli, J. R., Dec 4 2019, In : Neuron. 104, 5, p. 869-884.e11

    Research output: Contribution to journalArticle