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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

Fingerprint Dive into the research topics where Joe Mazzulli is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 17 Similar Profiles
Synucleins Medicine & Life Sciences
Parkinson Disease Medicine & Life Sciences
Glucosylceramidase Medicine & Life Sciences
Induced Pluripotent Stem Cells Medicine & Life Sciences
Neurons Medicine & Life Sciences
Dopaminergic Neurons Medicine & Life Sciences
Mesencephalon Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences

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Grants 2015 2024

Neuronal Ceroid-Lipofuscinoses
Induced Pluripotent Stem Cells
Clustered Regularly Interspaced Short Palindromic Repeats
Parkinson Disease
Gaucher Disease
Dietary Supplements
Parkinson Disease
Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins
Protein Prenylation
SNARE Proteins
Endoplasmic Reticulum
Protein Transport

Research Output 2002 2019

  • 3468 Citations
  • 28 Article
  • 3 Review article
  • 2 Chapter
12 Citations (Scopus)

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

Gaucher Disease
Parkinson Disease
Induced Pluripotent Stem Cells
Lewy Bodies
4 Citations (Scopus)

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

Dopaminergic Neurons
Parkinson Disease

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

Induced Pluripotent Stem Cells
Lysergic Acid Diethylamide
Cell Differentiation
18 Citations (Scopus)

Is Parkinson's disease a lysosomal disorder?

Klein, A. D. & Mazzulli, J. R., Jan 1 2018, In : Brain. 141, 8, p. 2255-2262 8 p.

Research output: Contribution to journalArticle

Parkinson Disease
Molecular Biology
10 Citations (Scopus)

Molecular mechanisms of α-synuclein and GBA1 in Parkinson’s disease

Stojkovska, I., Krainc, D. & Mazzulli, J., Oct 24 2018, In : Cell and Tissue Research. 373, 1, p. 51-60 10 p.

Research output: Contribution to journalReview article

Parkinson Disease
Lewy Bodies
Gaucher Disease