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Items: 28

1.

Dysregulation of the autophagic-lysosomal pathway in Gaucher and Parkinson's disease.

Pitcairn C, Wani WY, Mazzulli JR.

Neurobiol Dis. 2018 Mar 14. pii: S0969-9961(18)30074-3. doi: 10.1016/j.nbd.2018.03.008. [Epub ahead of print] Review.

PMID:
29550539
2.

Reversible Conformational Conversion of α-Synuclein into Toxic Assemblies by Glucosylceramide.

Zunke F, Moise AC, Belur NR, Gelyana E, Stojkovska I, Dzaferbegovic H, Toker NJ, Jeon S, Fredriksen K, Mazzulli JR.

Neuron. 2017 Dec 20. pii: S0896-6273(17)31135-2. doi: 10.1016/j.neuron.2017.12.012. [Epub ahead of print]

PMID:
29290548
3.

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

Stojkovska I, Krainc D, Mazzulli JR.

Cell Tissue Res. 2017 Oct 24. doi: 10.1007/s00441-017-2704-y. [Epub ahead of print] Review.

PMID:
29064079
4.

Dopamine induces soluble α-synuclein oligomers and nigrostriatal degeneration.

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.

Nat Neurosci. 2017 Nov;20(11):1560-1568. doi: 10.1038/nn.4641. Epub 2017 Sep 18.

5.

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.

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.

Science. 2017 Sep 22;357(6357):1255-1261. doi: 10.1126/science.aam9080. Epub 2017 Sep 7.

PMID:
28882997
6.

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

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.

Stem Cell Reports. 2016 Oct 11;7(4):664-677. doi: 10.1016/j.stemcr.2016.08.012. Epub 2016 Sep 15.

7.

Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

Mazzulli JR, Zunke F, Tsunemi T, Toker NJ, Jeon S, Burbulla LF, Patnaik S, Sidransky E, Marugan JJ, Sue CM, Krainc D.

J Neurosci. 2016 Jul 20;36(29):7693-706. doi: 10.1523/JNEUROSCI.0628-16.2016.

8.

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 JR, Krainc D, Blanz J, Saftig P, Schwake M.

Proc Natl Acad Sci U S A. 2016 Apr 5;113(14):3791-6. doi: 10.1073/pnas.1514005113. Epub 2016 Mar 21.

9.

α-Synuclein-induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models.

Mazzulli JR, Zunke F, Isacson O, Studer L, Krainc D.

Proc Natl Acad Sci U S A. 2016 Feb 16;113(7):1931-6. doi: 10.1073/pnas.1520335113. Epub 2016 Feb 2.

10.

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

Mazzulli JR, Burbulla LF, Krainc D, Ischiropoulos H.

Anal Chem. 2016 Feb 16;88(4):2399-405. doi: 10.1021/acs.analchem.5b04420. Epub 2016 Feb 3.

11.

LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.

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.

Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15573-8. doi: 10.1073/pnas.1405700111. Epub 2014 Oct 14.

12.

The glycolytic enzyme, GPI, is a functionally conserved modifier of dopaminergic neurodegeneration in Parkinson's models.

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.

Cell Metab. 2014 Jul 1;20(1):145-57. doi: 10.1016/j.cmet.2014.04.017. Epub 2014 May 29.

13.

Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons.

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.

Science. 2013 Nov 22;342(6161):983-7. doi: 10.1126/science.1245296. Epub 2013 Oct 24.

14.

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.

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.

Hum Mol Genet. 2013 May 15;22(10):2067-82. doi: 10.1093/hmg/ddt057. Epub 2013 Feb 7.

15.

Glucocerebrosidase mutations in a Serbian Parkinson's disease population.

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.

Eur J Neurol. 2013 Feb;20(2):402-5. doi: 10.1111/j.1468-1331.2012.03817.x. Epub 2012 Jul 20.

PMID:
22812582
16.

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 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.

Sci Transl Med. 2012 Jul 4;4(141):141ra90. doi: 10.1126/scitranslmed.3003985.

17.

Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.

Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D.

J Neurosci. 2012 Mar 21;32(12):4240-6. doi: 10.1523/JNEUROSCI.5575-11.2012.

18.

Sirt1 mediates neuroprotection from mutant huntingtin by activation of the TORC1 and CREB transcriptional pathway.

Jeong H, Cohen DE, Cui L, Supinski A, Savas JN, Mazzulli JR, Yates JR 3rd, Bordone L, Guarente L, Krainc D.

Nat Med. 2011 Dec 18;18(1):159-65. doi: 10.1038/nm.2559.

19.

Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease.

Palada V, Terzić J, Mazzulli J, Bwala G, Hagenah J, Peterlin B, Hung AY, Klein C, Krainc D.

Neurobiol Aging. 2012 Apr;33(4):836.e1-3. doi: 10.1016/j.neurobiolaging.2011.06.015. Epub 2011 Jul 27.

PMID:
21794955
20.

Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.

Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS.

Sci Transl Med. 2011 Jun 29;3(89):89ra58. doi: 10.1126/scitranslmed.3002346.

21.

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D.

Cell. 2011 Jul 8;146(1):37-52. doi: 10.1016/j.cell.2011.06.001. Epub 2011 Jun 23.

22.

Distinct region-specific alpha-synuclein oligomers in A53T transgenic mice: implications for neurodegeneration.

Tsika E, Moysidou M, Guo J, Cushman M, Gannon P, Sandaltzopoulos R, Giasson BI, Krainc D, Ischiropoulos H, Mazzulli JR.

J Neurosci. 2010 Mar 3;30(9):3409-18. doi: 10.1523/JNEUROSCI.4977-09.2010.

23.

Characterization of hydrophobic residue requirements for alpha-synuclein fibrillization.

Waxman EA, Mazzulli JR, Giasson BI.

Biochemistry. 2009 Oct 13;48(40):9427-36. doi: 10.1021/bi900539p.

24.

Acetylation targets mutant huntingtin to autophagosomes for degradation.

Jeong H, Then F, Melia TJ Jr, Mazzulli JR, Cui L, Savas JN, Voisine C, Paganetti P, Tanese N, Hart AC, Yamamoto A, Krainc D.

Cell. 2009 Apr 3;137(1):60-72. doi: 10.1016/j.cell.2009.03.018.

25.

Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy.

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.

J Clin Invest. 2008 Feb;118(2):777-88. doi: 10.1172/JCI32806.

26.

Cellular oligomerization of alpha-synuclein is determined by the interaction of oxidized catechols with a C-terminal sequence.

Mazzulli JR, Armakola M, Dumoulin M, Parastatidis I, Ischiropoulos H.

J Biol Chem. 2007 Oct 26;282(43):31621-30. Epub 2007 Sep 4.

27.

Cytosolic catechols inhibit alpha-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates.

Mazzulli JR, Mishizen AJ, Giasson BI, Lynch DR, Thomas SA, Nakashima A, Nagatsu T, Ota A, Ischiropoulos H.

J Neurosci. 2006 Sep 27;26(39):10068-78.

28.

Mouse DTEF-1 (ETFR-1, TEF-5) is a transcriptional activator in alpha 1-adrenergic agonist-stimulated cardiac myocytes.

Maeda T, Mazzulli JR, Farrance IK, Stewart AF.

J Biol Chem. 2002 Jul 5;277(27):24346-52. Epub 2002 May 1.

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