 Joseph R Mazzulli, Ph.D.
| Title | Instructor in Neurology |
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| Institution | Massachusetts General Hospital |
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| Department | Neurology |
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| Address | Massachusetts General Hospital
Cny-114 - 114/2001
114 16th Street
Charlestown MA 02129
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| Phone | 617/726-1273 |
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| Fax | 617/724-1480 |
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 Biography | 2009 -
2012 | NRSA 1 F32 NS066730-01 “Mechanisms of mutant huntingtin clearance by autophagy” |
Overview I am interested in delineating the in vivo factors that dictate the conformational conversion of soluble disease-linked proteins into aberrant pathogenic conformations such as oligomeric intermediates and amyloid fibrils. A current focus is on the mechanistic relationship of rare genetic diseases, such as those that result from inborn errors of metabolism, to more common neurodegenerative disorders like Parkinson’s disease.
Techniques and Model Systems:
-Analytic biochemical techniques (e.g. size exclusion chromatography, etc) to determine factors that influence protein misfolding and aggregation.
-Examining protein degradation pathways in neurons with a focus on the autophagic-lysosomal clearance system.
-Use of induced pluripotent stem cells to model neurodegenerative diseases by differentiation into midbrain dopamine neurons.
-Primary neuronal cultures and transgenic mice to determine the effect of protein accumulation on neurotoxicity.
-Purification of disease related proteins to study protein aggregation in vitro.
Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications.
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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 a-synuclein accumulation and age-dependent sensorimotor deficits. Hum Mol Genet. 2013 Feb 26.
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Kumar KR, Ramirez A, Göbel A, Kresojevic 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. 2013 Feb; 20(2):402-5.
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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.
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Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D. Deficiency of ATP13A2 leads to lysosomal dysfunction, a-synuclein accumulation, and neurotoxicity. J Neurosci. 2012 Mar 21; 32(12):4240-6.
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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. Nat Med. 2012 Jan; 18(1):159-65.
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Palada V, Terzic 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. 2012 Apr; 33(4):836.e1-3.
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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. 2011 Jun 29; 3(89):89ra58.
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Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D. Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 2011 Jul 8; 146(1):37-52.
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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. J Neurosci. 2010 Mar 3; 30(9):3409-18.
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Waxman EA, Mazzulli JR, Giasson BI. Characterization of hydrophobic residue requirements for alpha-synuclein fibrillization. Biochemistry. 2009 Oct 13; 48(40):9427-36.
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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. 2009 Apr 3; 137(1):60-72.
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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, Cuervo AM. Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy. J Clin Invest. 2008 Feb; 118(2):777-88.
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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. J Biol Chem. 2007 Oct 26; 282(43):31621-30.
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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 Sep 27; 26(39):10068-78.
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Mazzulli JR, Hodara R, Lind S, Ischiropoulos H. Protein misfolding, aggregation and conformational diseases: part A, protein aggregation and conformational diseases. Uversky VN and Fink AL, editors. Oxidative stress and protein deposition diseases. 2006; 123-136.
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Mazzulli JR, Lind S, Ischiropoulos H. Oxidative stress and age-related neurodegeneration. Luo Y and Packer L, editors. Reactive oxygen and nitrogen species: Weapons of neuronal destruction. 2006; 107-120.
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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 Jul 5; 277(27):24346-52.
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