Publications
Original Investigations
2023
Pitcairn C, Murata N, Zalon A, Stojkovska I, Mazzulli JR. Impaired autophagic-lysosomal fusion in Parkinson's patient midbrain neurons occurs through loss of ykt6 and is rescued by farnesyltransferase inhibition. J. Neurosci, 2023 Feb 13:JN-RM-0610-22. doi: 10.1523/JNEUROSCI.0610-22.2023, PMID: 36788031
2022
Stojkovska I, Wani WY, Zunke F, Belur NR, Pavlenko EA, Mwenda N, Sharma K, Francelle L, Mazzulli JR. Rescue of α-synuclein aggregation in Parkinson’s patient neurons by synergistic enhancement of ER proteostasis and protein trafficking. Neuron, Feb 2, 2022, PMID: 34793693
Chen X, Dong T, Hu Y, Shaffo FC, Belur NR, Mazzulli JR, Gray SJ. AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7. J. Clin Invest. 2022 Jan 13:e146286. doi: 10.1172/JCI146286. PMID: 35025759
Francelle L, Mazzulli JR. Neuroinflammation in Gaucher Disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson's disease. Brain Res. 2022 Jan 19;1780:147798. doi: 10.1016/j.brainres.2022.147798. PMID: 35063468
Heinl ES, Lorenz S, Schmidt B, Nasser M Laqtom N, Mazzulli JR, Francelle L, Yu TW, Greenberg B, Storch S, Tegtmeier I, Othmen H, Maurer K, Steinfurth M, Witzgall R, Milenkovic V, Wetzel CH, Reichold M. CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry. iScience, 2022 Oct 21;25(10):105082. doi: 10.1016/j.isci.2022.105082. PMID: 36093380
Cuddy LK, Alia AO, Salvo MA, Chandra S, Grammatopoulos TN, Justman CJ, Lansbury PT Jr, Mazzulli JR, Vassar R. Farnesyltransferase inhibitor LNK-754 attenuates axonal dystrophy and reduces amyloid pathology in mice. Mol Neurodegener. 2022 Aug 20;17(1):54. doi: 10.1186/s13024-022-00561-9. PMID: 35987691
Prieto Huarcaya S, Drobny A, Marques ARA, Di Spiezio A, Dobert JP, Balta D, Werner C, Rizo T, Gallwitz L, Bub S, Stojkovska I, Belur NR, Fogh J, Mazzulli JR, Xiang W, Fulzele A, Dejung M, Sauer M, Winner B, Rose-John S, Arnold P, Saftig P, Zunke F. Recombinant pro-CTSD (cathepsin D) enhances SNCA/α-Synuclein degradation in α-Synucleinopathy models. Autophagy. 2022 May;18(5):1127-1151. doi: 10.1080/15548627.2022.2045534. Epub 2022 Apr 28. PMID: 35287553
2021
Fredriksen, K., Aivazidis S, Sharma K, Burbidge KJ, Pitcairn C, Zunke F, Gelyana E, Mazzulli JR. Pathological a-syn aggregation is mediated by glycosphingolipid chain length and the physiological state of a-synuclein in vivo. Proc Natl Acad Sci U S A Dec 14th, 2021. PMID: 34893541
Cuddy LK, Mazzulli JR. Analysis of lysosomal hydrolase trafficking and activity in human iPSC-derived neuronal models. STAR Protoc. 2021 Feb 13;2(1):100340. doi: 10.1016/j.xpro.2021.100340. eCollection 2021 Mar 19. PMID: 33659904
Stojkovska I, Mazzulli JR. Detection of pathological alpha-synuclein aggregates in human iPSC-derived neurons and tissue. STAR Protoc. 2021 Mar 6;2(1):100372. doi: 10.1016/j.xpro.2021.100372. eCollection 2021 Mar 19. PMID: 33733241
2019
Cuddy LK, Wani WY, Morella ML, Pitcairn C, Tsutsumi K, Fredriksen K, Justman CJ, Grammatopoulos TN, Belur NR, Zunke F, Subramanian A, Affaneh A, Lansbury PT Jr, Mazzulli JR. Stress-Induced Cellular Clearance Is Mediated by the SNARE Protein ykt6 and Disrupted by α-Synuclein. Neuron. 2019 Oct 21. pii: S0896-6273(19)30774-3. doi: 10.1016/j.neuron.2019.09.001. [Epub ahead of print]. PMID: 31648898
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I,....Mazzulli JR, Bodamer O, Berde CB, Yu TW, Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. PMID: 31597037
Zunke F, Mazzulli JR. Modeling neuronopathic storage diseases with patient-derived culture systems. Neurobiol Dis. July, 2019; 127:147-162. PMID:30790616
Tsunemi T, Perez-Rosello T, Ishiguro Y, Yoroisaka A, Jeon S, Hamada K, Rammonhan M, Wong YC, Xie Z, Akamatsu W, Mazzulli JR, Surmeier DJ, Hattori N, Krainc D. Increased Lysosomal Exocytosis Induced by Lysosomal Ca2+ Channel Agonists Protects Human Dopaminergic Neurons from α-Synuclein Toxicity. J Neurosci. July 17, 2019; 39(29):5760-5772. PMID:31097622
2018
Zunke F, Moise AC, Belur NR, Gelyana E, Stojkovska I, Dzaferbegovic H, Toker NJ, Jeon S, Fredriksen K, Mazzulli JR. Reversible Conformational Conversion of α-Synuclein into Toxic Assemblies by Glucosylceramide. Neuron, Jan 3rd, 2018, 97 (1), 92-107e10. PMID:29290548
Klein AD, Mazzulli JR. Is Parkinson's Disease a Lysosomal Disorder? Brain, May 30. doi: 10.1093/brain/awy147. PMID: 29860491
Pitcairn C, Wani WY, Mazzulli JR. Dysregulation of the autophagic-lysosomal pathway in Gaucher and Parkinson's disease.Neurobiol Dis. 2018 Mar 14. pii: S0969-9961(18)30074-3. doi: 10.1016/j.nbd.2018.03.008 PMID: 29550539
2017
Stojkovska I, Krainc D, Mazzulli JR. Molecular Mechanisms of a-Synuclein and GBA1 in Parkinson's Disease (2017) Cell Tissue Res. Oct 24, doi: 10.1007/s00441-017-2704-y [Epub ahead of print], PMID: 29064079
Burbulla LF, Song P, Mazzulli JR, Zampese E, Wong YC, Jeon S, Santos DP, Blanz J, Obermaier CD, Strojny C, Savas JN, Kiskinis E, Zhuang X, Krüger R, Surmeier DJ, Krainc D. Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease (2017) Science. pii: eaam9080. doi: 10.1126/science.aam9080. [Epub ahead of print] PMID: 28882997
Mor DE, Tsika E, Mazzulli JR, Gould N, Kim H, Daniels MJ, Doshi S, Grossman JL, Tan VX, Kalb RG, Caldwell KA, Caldwell GA, Wolfe JH, Ischiropoulos H (2017). Dopamine induced nigrostriatal degeneration is mediated by soluble alpha-synuclein oligomers. Nature Neurosci. 2017 Nov;20(11):1560-1568. doi: 10.1038/nn.4641. Epub 2017 Sep 18. PMID:28920936
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:
- Cookson MR. A feedforward loop links Gaucher and Parkinson’s diseases? Cell. July 2011. 146, 9-11. PMID: 21729776.
- Dawson TM, Dawson VL. A lysosomal liar for a pathogenic protein pair. Sci Transl Med. July 2011. 3, 91ps28. PMID: 21753118.
- Mueller K, Yeston J. Editor’s Choice: A Lysosomal Culprit. Science. July 29 2011. 333, 500-501.
- Hawkins AK. Looping the link between Gaucher and Parkinson’s Disease. Clin Genet. Nov 2011. 80, 426-427. PMID: 21883165.
- Fernaqut PO. Links between glucocerebrosidase and alpha-synuclein revealed. Mov. Disord. Oct. 2011. 26, 2177. PMID: 22319791.
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.