Joseph R. Mazzulli, Ph.D. - Publications

Affiliations: 
2007 University of Pennsylvania, Philadelphia, PA, United States 
Area:
Neuroscience Biology

26/38 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Stojkovska I, Mazzulli JR. Detection of pathological alpha-synuclein aggregates in human iPSC-derived neurons and tissue. Star Protocols. 2: 100372. PMID 33733241 DOI: 10.1016/j.xpro.2021.100372  0.64
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, Mazzulli JR. Stress-Induced Cellular Clearance Is Mediated by the SNARE Protein ykt6 and Disrupted by α-Synuclein. Neuron. PMID 31648898 DOI: 10.1016/J.Neuron.2019.09.001  0.4
2019 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, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. The New England Journal of Medicine. PMID 31597037 DOI: 10.1056/Nejmoa1813279  0.64
2019 Tsunemi T, Perez-Rosello T, Ishiguro Y, Yoroisaka A, Jeon S, Hamada K, Krishna Vangipuram Suresh M, Wong YC, Xie Z, Akamatsu W, Mazzulli JR, Surmeier DJ, Hattori N, Krainc D. Increased lysosomal exocytosis induced by lysosomal Ca channel agonists protects human dopaminergic neurons from α-synuclein toxicity. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 31097622 DOI: 10.1523/Jneurosci.3085-18.2019  0.4
2019 Zunke F, Mazzulli JR. Modeling neuronopathic storage diseases with patient-derived culture systems. Neurobiology of Disease. PMID 30790616 DOI: 10.1016/J.Nbd.2019.01.018  0.4
2017 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. PMID 29290548 DOI: 10.1016/J.Neuron.2017.12.012  0.64
2017 Stojkovska I, Krainc D, Mazzulli JR. Molecular mechanisms of α-synuclein and GBA1 in Parkinson's disease. Cell and Tissue Research. PMID 29064079 DOI: 10.1007/S00441-017-2704-Y  0.64
2017 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, et al. Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease. Science (New York, N.Y.). PMID 28882997 DOI: 10.1126/Science.Aam9080  0.4
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. Stem Cell Reports. PMID 27641647 DOI: 10.1016/J.Stemcr.2016.08.012  0.4
2016 Mazzulli JR, Zunke F, Tsunemi T, Toker NJ, Jeon S, Burbulla LF, Patnaik S, Sidransky E, Marugan JJ, Sue CM, Krainc D. Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 7693-706. PMID 27445146 DOI: 10.1523/Jneurosci.0628-16.2016  0.4
2016 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. Proceedings of the National Academy of Sciences of the United States of America. PMID 27001828 DOI: 10.1073/Pnas.1514005113  0.4
2016 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 of the United States of America. PMID 26839413 DOI: 10.1073/Pnas.1520335113  0.4
2016 Mazzulli JR, Burbulla LF, Krainc D, Ischiropoulos H. Detection of Free and Protein-Bound ortho-Quinones by Near-Infrared Fluorescence. Analytical Chemistry. 88: 2399-405. PMID 26813311 DOI: 10.1021/Acs.Analchem.5B04420  0.4
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 β-glucocerebrosidase activity and α-synuclein clearance. Proceedings of the National Academy of Sciences of the United States of America. 111: 15573-8. PMID 25316793 DOI: 10.1073/Pnas.1405700111  0.4
2014 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, et al. The glycolytic enzyme, GPI, is a functionally conserved modifier of dopaminergic neurodegeneration in Parkinson's models. Cell Metabolism. 20: 145-57. PMID 24882066 DOI: 10.1016/J.Cmet.2014.04.017  0.4
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, et al. Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons. Science (New York, N.Y.). 342: 983-7. PMID 24158904 DOI: 10.1126/Science.1245296  0.4
2013 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, et al. Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits. Human Molecular Genetics. 22: 2067-82. PMID 23393156 DOI: 10.1093/Hmg/Ddt057  0.4
2013 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. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 20: 402-5. PMID 22812582 DOI: 10.1111/J.1468-1331.2012.03817.X  0.4
2012 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, ... ... Mazzulli J, et al. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Science Translational Medicine. 4: 141ra90. PMID 22764206 DOI: 10.1126/Scitranslmed.3003985  0.4
2012 Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D. Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 4240-6. PMID 22442086 DOI: 10.1523/Jneurosci.5575-11.2012  0.4
2012 Jeong H, Cohen DE, Cui L, Supinski A, Savas JN, Mazzulli JR, Yates JR, Bordone L, Guarente L, Krainc D. Sirt1 mediates neuroprotection from mutant huntingtin by activation of the TORC1 and CREB transcriptional pathway. Nature Medicine. 18: 159-65. PMID 22179316 DOI: 10.1038/Nm.2559  0.4
2012 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. Neurobiology of Aging. 33: 836.e1-3. PMID 21794955 DOI: 10.1016/J.Neurobiolaging.2011.06.015  0.4
2011 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. Science Translational Medicine. 3: 89ra58. PMID 21715679 DOI: 10.1126/Scitranslmed.3002346  0.4
2011 Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 146: 37-52. PMID 21700325 DOI: 10.1016/J.Cell.2011.06.001  0.4
2010 Tsika E, Moysidou M, Guo J, Cushman M, Gannon P, Sandaltzopoulos R, Giasson BI, Krainc D, Ischiropoulos H, Mazzulli JR. Distinct region-specific alpha-synuclein oligomers in A53T transgenic mice: implications for neurodegeneration. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 3409-18. PMID 20203200 DOI: 10.1523/Jneurosci.4977-09.2010  0.4
2009 Jeong H, Then F, Melia TJ, Mazzulli JR, Cui L, Savas JN, Voisine C, Paganetti P, Tanese N, Hart AC, Yamamoto A, Krainc D. Acetylation targets mutant huntingtin to autophagosomes for degradation. Cell. 137: 60-72. PMID 19345187 DOI: 10.1016/J.Cell.2009.03.018  0.4
Low-probability matches
2017 Mor DE, Tsika E, Mazzulli JR, Gould NS, Kim H, Daniels MJ, Doshi S, Gupta P, Grossman JL, Tan VX, Kalb RG, Caldwell KA, Caldwell GA, Wolfe JH, Ischiropoulos H. Dopamine induces soluble α-synuclein oligomers and nigrostriatal degeneration. Nature Neuroscience. PMID 28920936 DOI: 10.1038/Nn.4641  0.2
2009 Waxman EA, Mazzulli JR, Giasson BI. Characterization of hydrophobic residue requirements for alpha-synuclein fibrillization. Biochemistry. 48: 9427-36. PMID 19722699 DOI: 10.1021/Bi900539P  0.2
2008 Martinez-Vicente M, Talloczy Z, Kaushik S, Massey AC, Mazzulli J, Mosharov EV, Hodara R, Fredenburg R, Wu DC, Follenzi A, Dauer W, Przedborski S, Ischiropoulos H, Lansbury PT, Sulzer D, et al. Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy. The Journal of Clinical Investigation. 118: 777-88. PMID 18172548 DOI: 10.1172/Jci32806  0.2
2007 Mazzulli JR, Armakola M, Dumoulin M, Parastatidis I, Ischiropoulos H. Cellular oligomerization of alpha-synuclein is determined by the interaction of oxidized catechols with a C-terminal sequence. The Journal of Biological Chemistry. 282: 31621-30. PMID 17785456 DOI: 10.1074/Jbc.M704737200  0.2
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. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 10068-78. PMID 17005870 DOI: 10.1523/Jneurosci.0896-06.2006  0.2
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. The Journal of Biological Chemistry. 277: 24346-52. PMID 11986313 DOI: 10.1074/Jbc.M201171200  0.2
2018 Pitcairn C, Wani WY, Mazzulli JR. Dysregulation of the autophagic-lysosomal pathway in Gaucher and Parkinson's disease. Neurobiology of Disease. PMID 29550539 DOI: 10.1016/J.Nbd.2018.03.008  0.04
2021 Cuddy LK, Mazzulli JR. Analysis of lysosomal hydrolase trafficking and activity in human iPSC-derived neuronal models. Star Protocols. 2: 100340. PMID 33659904 DOI: 10.1016/j.xpro.2021.100340  0.01
2021 Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, ... ... Mazzulli JR, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy. 1-382. PMID 33634751 DOI: 10.1080/15548627.2020.1797280  0.01
2020 Chen X, Shaffo F, Dong T, Hu Y, Belur NR, Mazzulli JR, Gray SJ. Preclinical efficacy and safety evaluation of scAAV9/CLN7 gene replacement therapy in rodents Molecular Genetics and Metabolism. 129: S40. DOI: 10.1016/J.Ymgme.2019.11.079  0.01
2018 Klein AD, Mazzulli JR. Is Parkinson's disease a lysosomal disorder? Brain : a Journal of Neurology. PMID 29860491 DOI: 10.1093/Brain/Awy147  0.01
2012 Mazzulli J, Krainc D. A Mechanistic Connection Between Gaucher Disease and the Synucleinopathies Molecular Genetics and Metabolism. 105: S46. DOI: 10.1016/J.Ymgme.2011.11.112  0.01
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