• 3088 Citations
20022024
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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

Keywords

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

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  • 16 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
Mesencephalon Medicine & Life Sciences
Dopamine Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences

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Grants 2015 2024

Neuronal Ceroid-Lipofuscinoses
Induced Pluripotent Stem Cells
Neurons
Mutation
Clustered Regularly Interspaced Short Palindromic Repeats
Glycosphingolipids
Glucosylceramides
Parkinson Disease
Gaucher Disease
Neurons
Glucosamine
Dietary Supplements
Mesencephalon
Glycosylation
Parkinson Disease
Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins
Protein Prenylation
SNARE Proteins
Endoplasmic Reticulum
Hydrolases
Synucleins
Glucosylceramides
Parkinson Disease
ceramide glucosyltransferase
Lipids

Research Output 2002 2019

  • 3088 Citations
  • 27 Article
  • 3 Chapter
  • 3 Review article
9 Citations (Scopus)

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

Pitcairn, C., Wani, W. Y. & Mazzulli, J., Feb 1 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
Mutation

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
Neuroglia
Cell Differentiation
Pathology
8 Citations (Scopus)

Is Parkinson's disease a lysosomal disorder?

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

Research output: Contribution to journalArticle

Parkinson Disease
Synucleins
Molecular Biology
Mutation
Genes
3 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

Synucleins
Glucosylceramidase
Parkinson Disease
Lewy Bodies
Gaucher Disease
19 Citations (Scopus)

Reversible Conformational Conversion of α-Synuclein into Toxic Assemblies by Glucosylceramide

Zunke, F., Moise, A. C., Belur, N. R., Gelyana, E., Stojkovska, I., Dzaferbegovic, H., Toker, N. J., Jeon, S., Fredriksen, K. & Mazzulli, J., Jan 3 2018, In : Neuron. 97, 1, p. 92-107.e10

Research output: Contribution to journalArticle

Synucleins
Glucosylceramides
Glycosphingolipids
Poisons
Parkinson Disease