• 3168 Citations
20022024
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Research Output 2002 2019

  • 3168 Citations
  • 27 Article
  • 3 Chapter
  • 3 Review article
2019
11 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
2018
11 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
23 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
2017
43 Citations (Scopus)

Dopamine induces soluble α-synuclein oligomers and nigrostriatal degeneration

Mor, D. E., Tsika, E., Mazzulli, J. R., Gould, N. S., Kim, H., Daniels, M. J., Doshi, S., Gupta, P., Grossman, J. L., Tan, V. X., Kalb, R. G., Caldwell, K. A., Caldwell, G. A., Wolfe, J. H. & Ischiropoulos, H., Jan 1 2017, In : Nature Neuroscience. 20, 11, p. 1560-1568 9 p.

Research output: Contribution to journalArticle

Synucleins
Dopamine
Dopaminergic Neurons
Parkinson Disease
Cell Death
108 Citations (Scopus)

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease

Burbulla, L., Song, P., Mazzulli, J., Zampese, E., Wong, Y. C., Jeon, S., Santos, D. P., Blanz, J., Obermaier, C. D., Strojny, C., Savas, J. N., Kiskinis, E., Zhuang, X., Krüger, R., Surmeier Jr, D. J. & Krainc, D., Sep 22 2017, In : Science. 357, 6357, p. 1255-1261 7 p.

Research output: Contribution to journalArticle

Parkinson Disease
Dopamine
Synucleins
Neurons
Glucosylceramidase
2016
56 Citations (Scopus)

Activation of β-glucocerebrosidase reduces pathological α-synuclein and restores lysosomal function in Parkinson’s patient midbrain neurons

Mazzulli, J., Zunke, F., Tsunemi, T., Toker, N. J., Jeon, S., Burbulla, L., Patnaik, S., Sidransky, E., Marugan, J. J., Sue, C. M. & Krainc, D., Jul 20 2016, In : Journal of Neuroscience. 36, 29, p. 7693-7706 14 p.

Research output: Contribution to journalArticle

Synucleins
Glucosylceramidase
Mesencephalon
Neurons
Parkinson Disease
16 Citations (Scopus)

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2

Zunke, F., Andresen, L., Wesseler, S., Groth, J., Arnold, P., Rothaug, M., Mazzulli, J. R., Krainc, D., Blanz, J., Saftig, P. & Schwake, M., Apr 5 2016, In : Proceedings of the National Academy of Sciences of the United States of America. 113, 14, p. 3791-3796 6 p.

Research output: Contribution to journalArticle

Lysosome-Associated Membrane Glycoproteins
Glucosylceramidase
Gaucher Disease
Parkinson Disease
Peptides
10 Citations (Scopus)

Detection of Free and Protein-Bound ortho-Quinones by Near-Infrared Fluorescence

Mazzulli, J., Burbulla, L., Krainc, D. & Ischiropoulos, H., Feb 16 2016, In : Analytical Chemistry. 88, 4, p. 2399-2405 7 p.

Research output: Contribution to journalArticle

Quinones
Dopamine
Fluorescence
Infrared radiation
Proteins
49 Citations (Scopus)

Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and α-Synuclein Accumulation

Chung, S. Y., Kishinevsky, S., Mazzulli, J., Graziotto, J., Mrejeru, A., Mosharov, E. V., Puspita, L., Valiulahi, P., Sulzer, D., Milner, T. A., Taldone, T., Krainc, D., Studer, L. & Shim, J. W., Oct 11 2016, In : Stem cell reports. 7, 4, p. 664-677 14 p.

Research output: Contribution to journalArticle

Synucleins
Induced Pluripotent Stem Cells
Dopaminergic Neurons
Mesencephalon
Stem cells
87 Citations (Scopus)
Synucleins
Protein Transport
Mesencephalon
Parkinson Disease
Hydrolases
2014
48 Citations (Scopus)

LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance

Rothaug, M., Zunke, F., Mazzulli, J. R., Schweizer, M., Altmeppen, H., Lüllmann-Rauche, R., Kallemeijn, W. W., Gaspar, P., Aerts, J. M., Glatzel, M., Saftig, P., Krainc, D., Schwake, M. & Blanz, J., Oct 28 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 43, p. 15573-15578 6 p.

Research output: Contribution to journalArticle

Synucleins
Lysosome-Associated Membrane Glycoproteins
Glucosylceramidase
Gaucher Disease
Dopaminergic Neurons
25 Citations (Scopus)

The glycolytic enzyme, GPI, is a functionally conserved modifier of dopaminergic neurodegeneration in Parkinson's models

Knight, A. L., Yan, X., Hamamichi, S., Ajjuri, R. R., Mazzulli, J., Zhang, M. W., Daigle, J. G., Zhang, S., Borom, A. R., Roberts, L. R., Lee, S. K., DeLeon, S. M., Viollet-Djelassi, C., Krainc, D., O'Donnell, J. M., Caldwell, K. A. & Caldwell, G. A., Jul 1 2014, In : Cell Metabolism. 20, 1, p. 145-157 13 p.

Research output: Contribution to journalArticle

Synucleins
Insulin-Like Growth Factor I
Enzymes
Insulin
Glucose
2013
65 Citations (Scopus)

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

Schultheis, P. J., Fleming, S. M., Clippinger, A. K., Lewis, J., Tsunemi, T., Giasson, B., Dickson, D. W., Mazzulli, J. R., Bardgett, M. E., Haik, K. L., Ekhator, O., Chava, A. K., Howard, J., Gannon, M., Hoffman, E., Chen, Y., Prasad, V., Linn, S. C., Tamargo, R. J., Westbroek, W. & 3 othersSidransky, E., Krainc, D. & Shull, G. E., May 1 2013, In : Human molecular genetics. 22, 10, p. 2067-2082 16 p., ddt057.

Research output: Contribution to journalArticle

Synucleins
Neuronal Ceroid-Lipofuscinoses
Lipofuscin
Cerebellum
Parkinson Disease
29 Citations (Scopus)

Glucocerebrosidase mutations in a Serbian Parkinson's disease population

Kumar, K. R., Ramirez, A., Göbel, A., Kresojević, N., Svetel, M., Lohmann, K., M Sue, C., Rolfs, A., Mazzulli, J. R., Alcalay, R. N., Krainc, D., Klein, C., Kostic, V. & Grünewald, A., Feb 1 2013, In : European Journal of Neurology. 20, 2, p. 402-405 4 p.

Research output: Contribution to journalArticle

Glucosylceramidase
Parkinson Disease
Mutation
Population
Haplotypes
231 Citations (Scopus)

Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons

Chung, C. Y., Khurana, V., Auluck, P. K., Tardiff, D. F., Mazzulli, J. R., Soldner, F., Baru, V., Lou, Y., Freyzon, Y., Cho, S., Mungenast, A. E., Muffat, J., Mitalipova, M., Pluth, M. D., Jui, N. T., Schul̈e, B., Lippard, S. J., Tsai, L. H., Krainc, D., Buchwald, S. L. & 2 othersJaenisch, R. & Lindquist, S., Jan 1 2013, In : Science. 342, 6161, p. 983-987 5 p.

Research output: Contribution to journalArticle

Synucleins
Induced Pluripotent Stem Cells
Yeasts
Neurons
Parkinson Disease
2012
141 Citations (Scopus)

Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity

Usenovic, M., Tresse, E., Mazzulli, J. R., Taylor, J. P. & Krainc, D., Mar 21 2012, In : Journal of Neuroscience. 32, 12, p. 4240-4246 7 p.

Research output: Contribution to journalArticle

Synucleins
Neurons
Lysosome-Associated Membrane Glycoproteins
Lewy Bodies
Mutation
20 Citations (Scopus)

Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease

Palada, V., Terzić, J., Mazzulli, J., Bwala, G., Hagenah, J., Peterlin, B., Hung, A. Y., Klein, C. & Krainc, D., Jan 1 2012, In : Neurobiology of Aging. 33, 4, p. 836.e1-836.e3

Research output: Contribution to journalArticle

Histamine N-Methyltransferase
Parkinson Disease
Histamine
Neurotransmitter Agents
Meta-Analysis
267 Citations (Scopus)

Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease

Cooper, O., Seo, H., Andrabi, S., Guardia-Laguarta, C., Graziotto, J., Sundberg, M., McLean, J. R., Carrillo-Reid, L., Xie, Z., Osborn, T., Hargus, G., Deleidi, M., Lawson, T., Bogetofte, H., Perez-Torres, E., Clark, L., Moskowitz, C., Mazzulli, J., Chen, L., Volpicelli-Daley, L. & 19 othersRomero, N., Jiang, H., Uitti, R. J., Huang, Z., Opala, G., Scarffe, L. A., Dawson, V. L., Klein, C., Feng, J., Ross, O. A., Trojanowski, J. Q., Lee, V. M. Y., Marder, K., Surmeier, D. J., Wszolek, Z. K., Przedborski, S., Krainc, D., Dawson, T. M. & Isacson, O., Jul 4 2012, In : Science Translational Medicine. 4, 141, 141ra90.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Parkinson Disease
Pharmacology
Phosphotransferases
Leucine
195 Citations (Scopus)

Sirt1 mediates neuroprotection from mutant huntingtin by activation of the TORC1 and CREB transcriptional pathway

Jeong, H., Cohen, D. E., Cui, L., Supinski, A., Savas, J. N., Mazzulli, J. R., Yates, J. R., Bordone, L., Guarente, L. & Krainc, D., Jan 1 2012, In : Nature Medicine. 18, 1, p. 159-165 7 p.

Research output: Contribution to journalArticle

Huntington Disease
Chemical activation
Brain
Brain-Derived Neurotrophic Factor
Transcription
2011
581 Citations (Scopus)

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

Mazzulli, J. R., Xu, Y. H., Sun, Y., Knight, A. L., McLean, P. J., Caldwell, G. A., Sidransky, E., Grabowski, G. A. & Krainc, D., Jul 8 2011, In : Cell. 146, 1, p. 37-52 16 p.

Research output: Contribution to journalArticle

Synucleins
Glucosylceramidase
Gaucher Disease
Parkinson Disease
Neurons
196 Citations (Scopus)

Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells

Cao, K., Graziotto, J. J., Blair, C. D., Mazzulli, J. R., Erdos, M. R., Krainc, D. & Collins, F. S., Jun 29 2011, In : Science translational medicine. 3, 89, 89ra58.

Research output: Contribution to journalArticle

Progeria
Mutant Proteins
Sirolimus
Phenotype
Lamin Type A
2010
63 Citations (Scopus)

Distinct region-specific α-synuclein oligomers in A53T transgenic mice: Implications for neurodegeneration

Tsika, E., Moysidou, M., Guo, J., Cushman, M., Gannon, P., Sandaltzopoulos, R., Giasson, B. I., Krainc, D., Ischiropoulos, H. & Mazzulli, J. R., Mar 3 2010, In : Journal of Neuroscience. 30, 9, p. 3409-3418 10 p.

Research output: Contribution to journalArticle

Synucleins
Transgenic Mice
Neurons
Endopeptidase K
Nerve Degeneration
2009
255 Citations (Scopus)

Acetylation Targets Mutant Huntingtin to Autophagosomes for Degradation

Jeong, H., Then, F., Melia, T. J., Mazzulli, J. R., Cui, L., Savas, J. N., Voisine, C., Paganetti, P., Tanese, N., Hart, A. C., Yamamoto, A. & Krainc, D., Apr 3 2009, In : Cell. 137, 1, p. 60-72 13 p.

Research output: Contribution to journalArticle

Acetylation
Huntington Disease
Mutant Proteins
Degradation
Autophagy
42 Citations (Scopus)

Characterization of hydrophobic residue requirements for α-synuclein fibrillization

Waxman, E. A., Mazzulli, J. R. & Giasson, B. I., Oct 22 2009, In : Biochemistry. 48, 40, p. 9427-9436 10 p.

Research output: Contribution to journalArticle

Synucleins
Aptitude
Amyloid
Neurodegenerative diseases
Multiple System Atrophy
2008
400 Citations (Scopus)

Dopamine-modified α-synuclein blocks chaperone-mediated autophagy

Martinez-Vicente, M., Talloczy, Z., Kaushik, S., Massey, A. C., Mazzulli, J., Mosharov, E. V., Hodara, R., Fredenburg, R., Wu, D. C., Follenzi, A., Dauer, W., Przedborski, S., Ischiropoulos, H., Lansbury, P. T., Sulzer, D. & Cuervo, A. M., Feb 1 2008, In : Journal of Clinical Investigation. 118, 2, p. 777-778 2 p.

Research output: Contribution to journalArticle

Synucleins
Autophagy
Dopamine
Parkinson Disease
Post Translational Protein Processing
2007
55 Citations (Scopus)

Cellular oligomerization of α-synuclein is determined by the interaction of oxidized catechols with a C-terminal sequence

Mazzulli, J. R., Armakola, M., Dumoulin, M., Parastatidis, I. & Ischiropoulos, H., Oct 26 2007, In : Journal of Biological Chemistry. 282, 43, p. 31621-31630 10 p.

Research output: Contribution to journalArticle

Synucleins
Catechols
Oligomerization
Agglomeration
Parkinson Disease
2006
113 Citations (Scopus)

Cytosolic catechols inhibit α-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates

Mazzulli, J. R., Mishizen, A. J., Giasson, B. I., Lynch, D. R., Thomas, S. A., Nakashima, A., Nagatsu, T., Ota, A. & Ischiropoulos, H., Sep 27 2006, In : Journal of Neuroscience. 26, 39, p. 10068-10078 11 p.

Research output: Contribution to journalArticle

Synucleins
Catechols
Dopamine
Nerve Degeneration
Cell-Free System

Oxidative stress and protein deposition diseases

Mazzulli, JR., Hodara, R., Lind, S. & Ischiropoulos, H., 2006, Protein misfolding, aggregation and conformational diseases : Part A, protein aggregation and conformational diseases. Uversky, VN. & Fink, AL. (eds.). New York: Springer Science+Business Media, p. 123-136

Research output: Chapter in Book/Report/Conference proceedingChapter

Reactive oxygen and nitrogen species: Weapons of neuronal destruction

Mazzulli, JR. & Ischiropoulos, H., 2006, Oxidative stress and age-related neurodegeneration. Luo, Y. & Packer, L. (eds.). Boca Raton: CRC/Taylor & Francis, p. 102-120

Research output: Chapter in Book/Report/Conference proceedingChapter

2005
1 Citation (Scopus)

Reactive oxygen and nitrogen species: Weapons of neuronal destruction

Mazzulli, J., Lind, S. & Ischiropoulos, H., Jan 1 2005, Oxidative Stress and Age-Related Neurodegeneration. CRC Press, p. 107-120 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Reactive Nitrogen Species
Weapons
Reactive Oxygen Species
Macromolecules
Unsaturated Fatty Acids
2002
24 Citations (Scopus)

Mouse DTEF-1 (ETFR-1, TEF-5) is a transcriptional activator in α1-adrenergic agonist-stimulated cardiac myocytes

Maeda, T., Mazzulli, J. R., Farrance, I. K. G. & Stewart, A. F. R., Jul 5 2002, In : Journal of Biological Chemistry. 277, 27, p. 24346-24352 7 p.

Research output: Contribution to journalArticle

Adrenergic Agonists
Cardiac Myocytes
Adrenergic Agents
Muscle
Actins