• 3630 Citations
20022024

Research output per year

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Research Output

  • 3630 Citations
  • 30 Article
  • 3 Review article
  • 2 Chapter
2019

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

15 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

7 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

15 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

2018

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

21 Scopus citations

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

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

Research output: Contribution to journalReview article

16 Scopus citations

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. R., Jan 3 2018, In : Neuron. 97, 1, p. 92-107.e10

Research output: Contribution to journalArticle

42 Scopus citations
2017

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

65 Scopus citations

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

Burbulla, L. F., Song, P., Mazzulli, J. R., 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, D. J. & Krainc, D., Sep 22 2017, In : Science. 357, 6357, p. 1255-1261 7 p.

Research output: Contribution to journalArticle

168 Scopus citations
2016

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

Mazzulli, J. R., Zunke, F., Tsunemi, T., Toker, N. J., Jeon, S., Burbulla, L. F., 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

86 Scopus citations

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

20 Scopus citations

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

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

Research output: Contribution to journalArticle

16 Scopus citations

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

Chung, S. Y., Kishinevsky, S., Mazzulli, J. R., 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

63 Scopus citations
116 Scopus citations
2014

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

54 Scopus citations

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. R., 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

29 Scopus citations
2013

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 others, Sidransky, 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

75 Scopus citations

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

31 Scopus citations

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 others, Jaenisch, R. & Lindquist, S., Jan 1 2013, In : Science. 342, 6161, p. 983-987 5 p.

Research output: Contribution to journalArticle

257 Scopus citations
2012

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

163 Scopus citations

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., Apr 2012, In : Neurobiology of Aging. 33, 4, p. 836.e1-836.e3

Research output: Contribution to journalArticle

20 Scopus citations

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 others, Romero, 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

291 Scopus citations

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

204 Scopus citations
2011

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

647 Scopus citations

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

206 Scopus citations
2010

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

66 Scopus citations
2009

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

264 Scopus citations

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

46 Scopus citations
2008

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

428 Scopus citations
2007

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

58 Scopus citations
2006

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

115 Scopus citations

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

2005

Reactive oxygen and nitrogen species: Weapons of neuronal destruction

Mazzulli, J., Lind, S. & Ischiropoulos, H., Jan 1 2005, Oxidative Stress and Age-Related Neurodegeneration. Luo, Y. & Packer, L. (eds.). CRC Press, p. 107-120 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
2002

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

24 Scopus citations