Northwestern University Feinberg School of Medicine

Mazzulli Laboratory

Publications

Original Investigations

2016

Chung SY*, Kishinevsky S*, Mazzulli JR, Graziotto J, Mrejeru A, Mosharov EV, Puspita L, Valiulahi P, Sulzer D, Milner TA, Taldone T, Krainc D, Studer L, Shim JW. Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and α-Synuclein Accumulation. * Co-First Author. Stem Cell Reports, 2016 Sep 15. pii: S2213-6711(16)30179-5. PMID: 27641647  * co-first author.

Mazzulli JR, Zunke F, Tsunemi T, Toker NJ, Jeon S, Burbulla LF, Patnaik S, Sidransky E, Marugan JJ, Sue CM, Krainc D. Activation of b-Glucocerebrosidase Reduces Pathological a-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.  J Neurosci,  Jul 20, 2016;36(29):7693-706.PMID: 27445146

Mazzulli JR, Zunke F, Isacson O, Studer L, Krainc D. α-Synuclein-induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models.  Proceedings of the National Academy of Sciences USA, Feb 16, 2016 ;113(7):1931-6. PMID: 26839413

Mazzulli JR, Burbulla LF, Krainc D, Ischiropoulos H.  Detection of Free and Protein-Bound ortho-Quinones by Near-Infrared Fluorescence.  Analytical Chemistry, Feb 16, 88(4):2399-405, 2016, PMID:26813311

Zunke F, Andresen L, Wesseler S, Groth J, Arnold P, Rothaug M, Mazzulli JR, Krainc D, Blanz J, Saftig P, Schwake M. Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2. Proc Natl Acad Sci U S A, Mar 21, 2016, PMID: 27001828

2014

Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J. LIMP-2 expression is critical for b-glucocerebrosidase activity and a-synuclein clearance. Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15573-8. doi: 10.1073/pnas.1405700111. Epub 2014 Oct 14. PMID: 25316793 [PubMed - in process]

Knight AL, Yan X, Hamamichi S, Ajjuri RR, Mazzulli JR, Zhang MW, Daigle JG, Zhang S, Borom AR, Roberts LR, Lee SK, DeLeon SM, Viollet-Djelassi C, Krainc D, O'Donnell JM, Caldwell KA, Caldwell GA. The glycolytic enzyme, GPI, is a functionally conserved modifier of dopaminergic neurodegeneration in Parkinson's models.Cell Metab. 2014 Jul 1;20(1):145-57: PMID: 24882066.

2013

Chung CY*, Khurana V*, Auluck PK, Tardiff DF, Mazzulli JR, Soldner F, Baru V, Lou Y, Freyzon Y, Cho S, Mungenast AE, Muffat J, Mitalipova M, Pluth MD, Jui NT, Schüle B, Lippard SJ, Tsai LH, Krainc D, Buchwald SL, Jaenisch R, Lindquist S. Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons.Science. 2013 Nov 22;342 (6161):983-987. PMID: 24158904. * co-first author

Schultheis PJ, Fleming SM, Clippinger AK, Lewis J, Tsunemi T, Giasson B, Dickson DW, Mazzulli JR, Bardgett ME, Haik KL, Ekhator O, Chava AK, Howard J, Gannon M, Hoffman E, Chen Y, Prasad V, Linn SC, Tamargo RJ, Westbroek W, Sidransky E, Krainc D, Shull GE. Atp13a2-Deficient Mice Exhibit Neuronal Ceroid Lipofuscinosis, Limited α-Synuclein Accumulation, and Age-Dependent Sensorimotor Deficits.Hum Mol Genet. 2013 Feb 7. 22 (10), 2067-2082. PMID: 23393156.

2012

Kumar KR, Ramirez A, Göbel A, Kresojević N, Svetel M, Lohmann K, M Sue C, Rolfs A, Mazzulli JR, Alcalay RN, Krainc D, Klein C, Kostic V, Grünewald A. Glucocerebrosidase mutations in a Serbian Parkinson's disease population.Eur J Neurol. 2012 Jul 20. 1468-1331. PMID: 22812582.

Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, 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, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease.Sci Transl Med. 2012 Jul 4;4(141):141ra90. PMID: 22764206.

Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D. Deficiency of ATP13A2 leads to lysosomal dysfunction, alpha-synuclein accumulation, and neurotoxicity.J. Neurosci. Mar 21, 2012. 32, 4240-4246. PMID: 22442086

2011

Jeong H, Cohen DE, Cui L, Supinski A, Savas JN, Mazzulli JR, Yates JR., Bordone L, Guarente LP, Krainc D. Sirt1 mediates neuroprotection from mutant huntingtin by activation of TORC1 and CREB transcriptional pathway.Nat Med. Dec 18, 2011; 18(1), 159-165. PMID: 22179316.

Palada V, Terzić J, Mazzulli J, Bwala G, Hagenah J, Peterlin B, Hung AY, Klein C, Krainc D. Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease.Neurobiol Aging. April 2011; 33(4), 836.e1-3. PMID: 21794955.

Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.Sci Transl Med. June 2011; 3 (89), 89ra58. PMID: 21715679.

Mazzulli JR, Xu Y, Sun Y, Knight AL, Mclean PJ, Caldwell GA, Sidransky E, Grabowski G, Krainc D. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies.Cell. July 2011; 146, 37-52. PMID: 21700325.

Comment in:

2010

Tsika E, Moysidou M, Guo J, Cushman M, Gannon P, Sandaltzopoulos R, Giasson BI, Krainc D, Ischiropoulos H, and Mazzulli JR. Distinct region-specific alpha-synuclein oligomers in A53T transgenic mice: implications for neurodegeneration.J. Neurosci. 2010; 30:3409-3418. PMID: 20203200*Featured cover article “This Week in the Journal” J. Neurosci. 2010, 30 (9).

2009

Waxman EA, Mazzulli JR, Giasson B. Characterization of hydrophobic residue requirements for alpha-synuclein fibrillization.Biochemistry. 2009; 48: 9427-9436. PMID: 19722699.

Jeong H, Then F, Melia TJ, Mazzulli JR, Cui L, Savas JN, Voisine C, Tanese N, Hart AC, Yamamoto A, Krainc D. Acetylation targets mutant huntingtin to autophagosomes for degradation.Cell. 2009; 137: 60-72. PMID: 19345187.

2008

Martinez-Vicente M, Tallaczy Z, Kaushik S, Massey AC, Mazzulli J, Mosharov E, Hodara R, Fredenburg R, Wu DC, Follenzi A, Dauer W, Przedborski S, Ischiropoulos H, Lansbury PT, Sulzer D, Cuervo AM. Dopamine-modified alpha-synuclein blocks chaperone mediated autophagy.J Clin Invest. 2008, 118:777-788. PMID: 18172548.

2007

Mazzulli JR, Armakola M, Dumoulin M, Parastatidis I, Ischiropoulos H. Cellular oligomerization of alpha-synuclein is determined by the specific non-covalent interaction of oxidized catechols with a C-terminal sequence.J Biol Chem. 2007, 282:31621-31630. PMID: 17785456.

2006

Mazzulli JR, Mishizen AJ, Giasson BI, Lynch DR, Thomas SA, Nakashima A, Nagatsu T, Ota A, Ischiropoulos H. Cytosolic catechols inhibit alpha-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates*.J Neurosci. 2006; 26:10068-10078. PMID: 17005870*Featured cover article “This Week in the Journal” J. Neurosci. 2006, 26 (39).

2002

Maeda T, Mazzulli JR, Farrance IK, Stewart AF. Mouse DTEF-1 (ETFR-1, TEF-5) is a transcriptional activator in alpha 1-adrenergic agonist-stimulated cardiac myocytes.J Biol Chem. 2002; 277: 24346-52. PMID: 11986313.

Book Chapters

Mazzulli JR, Hodara R, Lind S, Ischiropoulos H. Oxidative stress and protein deposition diseases. In Protein misfolding, aggregation and conformational diseases : part A, protein aggregation and conformational diseases. Uversky VN and Fink AL, editors. New York, N.Y.: Springer Science+Business Media. 2006; 123-136.

Mazzulli JR, Lind S, Ischiropoulos H. Reactive oxygen and nitrogen species: Weapons of neuronal destruction. In Oxidative stress and age-related neurodegeneration. Luo Y and Packer L, editors. Boca Raton: CRC/Taylor & Francis. 2006; 107-120.