Asou H, Hirano S, Uyemura K (1989) Ganglioside composition of astrocytes. Cell Struct Funct 14:561–568. https://doi.org/10.1247/csf.14.561
Article
CAS
PubMed
Google Scholar
Beutler E, Kuhl W (1975) Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes. Nature 258:262–264. https://doi.org/10.1038/258262a0
Article
CAS
PubMed
Google Scholar
Bifsha P, Landry K, Ashmarina L, Durand S, Seyrantepe V, Trudel S, Quiniou C, Chemtob S, Xu Y, Gravel RA, Sladek R, Pshezhetsky AV (2007) Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway. Cell Death Differ 14:511–523. https://doi.org/10.1038/sj.cdd.4402013
Article
CAS
PubMed
Google Scholar
Björklund A, Dunnett SB (2007) Dopamine neuron systems in the brain: an update. Trends Neurosci 30:194–202. https://doi.org/10.1016/j.tins.2007.03.006
Article
CAS
PubMed
Google Scholar
Boyce RW, Dorph-Petersen K-A, Lyck L, Gundersen HJG (2010) Design-based stereology: introduction to basic concepts and practical approaches for estimation of cell number. Toxicol Pathol 38:1011–1025. https://doi.org/10.1177/0192623310385140
Article
PubMed
Google Scholar
Breiden B, Sandhoff K (2019) Lysosomal Glycosphingolipid Storage Diseases. Annu Rev Biochem 88:461–485. https://doi.org/10.1146/annurev-biochem-013118-111518.
Brekk OR, Moskites A, Isacson O, Hallett PJ (2018) Lipid-dependent deposition of alpha-synuclein and tau on neuronal Secretogranin II-positive vesicular membranes with age. Sci Rep 8:15207. https://doi.org/10.1038/s41598-018-33474-z
Article
CAS
PubMed
PubMed Central
Google Scholar
Cachon-Gonzalez MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM (2006) Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci 103:10373–10378. https://doi.org/10.1073/pnas.0603765103
Article
CAS
PubMed
Google Scholar
Cachón-González M-B, Wang SZ, Ziegler R, Cheng SH, Cox TM (2014) Reversibility of neuropathology in Tay–Sachs-related diseases. Hum Mol Genet 23:730–748. https://doi.org/10.1093/hmg/ddt459
Article
CAS
PubMed
Google Scholar
Chung CY, Koprich JB, Siddiqi H, Isacson O (2009) Dynamic changes in presynaptic and axonal transport proteins combined with striatal neuroinflammation precede dopaminergic neuronal loss in a rat model of AAV α-Synucleinopathy. J Neurosci 29:3365–73. https://doi.org/10.1523/JNEUROSCI.5427-08.2009
Fantini J, Yahi N (2011) Molecular basis for the Glycosphingolipid-binding specificity of α-Synuclein: key role of tyrosine 39 in membrane insertion. J Mol Biol 408:654–669. https://doi.org/10.1016/j.jmb.2011.03.009
Article
CAS
PubMed
Google Scholar
Fortin DL, Troyer MD, Nakamura K, Kubo S, Anthony MD, Edwards RH (2004) Lipid rafts mediate the synaptic localization of α-Synuclein. J Neurosci 24:6715–6723. https://doi.org/10.1523/JNEUROSCI.1594-04.2004
Article
CAS
PubMed
PubMed Central
Google Scholar
Gaspar R, Pallbo J, Weininger U, Linse S, Sparr E (2018) Ganglioside lipids accelerate α-synuclein amyloid formation. Biochim Biophys Acta, Proteins Proteomics 1866:1062–1072. https://doi.org/10.1016/j.bbapap.2018.07.004
Article
CAS
Google Scholar
Grabowski GA, Gaft S, Horowitz M, Kolodny EH (1990) Acid β-Glucosidase: enzymology and molecular biology of Gaucher Diseas. Crit Rev Biochem Mol Biol 25:385–414. https://doi.org/10.3109/10409239009090616
Article
CAS
PubMed
Google Scholar
Gundersen HJG, Jensen EBV, Kieu K, Nielsen J (1999) The efficiency of systematic sampling in stereology—reconsidered. J Microsc 193:199–211. https://doi.org/10.1046/j.1365-2818.1999.00457.x.
Hallett PJ, Engelender S, Isacson O (2019) Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson’s disease. J Neuroinflammation 16:153. https://doi.org/10.1186/s12974-019-1532-2
Article
CAS
PubMed
PubMed Central
Google Scholar
Huebecker M, Moloney EB, van der Spoel AC, Priestman DA, Isacson O, Hallett PJ, Platt FM (2019) Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease. Mol Neurodegener 14:40. https://doi.org/10.1186/s13024-019-0339-z
Article
PubMed
PubMed Central
Google Scholar
Ip CW, Cheong D, Volkmann J (2017) Stereological estimation of dopaminergic neuron number in the mouse Substantia Nigra using the optical fractionator and standard microscopy equipment. J Vis Exp 56103. https://doi.org/10.3791/56103
Isacson O, Brekk OR, Hallett PJ (2019) Novel results and concepts emerging from lipid cell biology relevant to degenerative brain aging and disease. Front Neurol 10:1053. https://doi.org/10.3389/fneur.2019.01053
Israeli E, Sharon R (2009) β-Synuclein occurs in vivo in lipid-associated oligomers and forms hetero-oligomers with α-synuclein. J Neurochem 108:465–474. https://doi.org/10.1111/j.1471-4159.2008.05776.x
Article
CAS
PubMed
Google Scholar
Kirik D, Rosenblad C, Burger C, Lundberg C, Johansen TE, Muzyczka N, Mandel RJ, Björklund A (2002) Parkinson-like Neurodegeneration induced by targeted overexpression of α-Synuclein in the Nigrostriatal system. J Neurosci 22:2780–2791. https://doi.org/10.1523/JNEUROSCI.22-07-02780.2002
Article
CAS
PubMed
PubMed Central
Google Scholar
Koprich JB, Johnston TH, Huot P, Reyes MG, Espinosa M, Brotchie JM (2011) Progressive Neurodegeneration or endogenous compensation in an animal model of Parkinson’s disease produced by decreasing doses of alpha-Synuclein. PLoS One 6:e17698. https://doi.org/10.1371/journal.pone.0017698
Article
CAS
PubMed
PubMed Central
Google Scholar
Korecka J, Schouten M, Eggers R, Ulusoy A, Bossers K, Verhaagen J (2011) Comparison of AAV serotypes for gene delivery to dopaminergic neurons in the Substantia Nigra. Viral Gene Ther. https://doi.org/10.5772/18939
Lacorazza HD, Flax JD, Snyder EY, Jendoubi M (1996) Expression of human β–hexosaminidase α–subunit gene (the gene defect of Tay–Sachs disease) in mouse brains upon engraftment of transduced progenitor cells. Nat Med 2:424–429. https://doi.org/10.1038/nm0496-424
Article
CAS
PubMed
Google Scholar
Ledeen RW, Wu G (2018) Chapter fifteen - Gangliosides, α-Synuclein, and Parkinson’s disease. In: Schnaar RL, Lopez PHH (eds) Progress in Molecular Biology and Translational Science. Academic Press, pp. 435–454
Licher S, Darweesh SKL, Wolters FJ, Fani L, Heshmatollah A, Mutlu U, Koudstaal PJ, Heeringa J, Leening MJG, Ikram MK, Ikram MA (2019) Lifetime risk of common neurological diseases in the elderly population. J Neurol Neurosurg Psychiatry 90:148–156. https://doi.org/10.1136/jnnp-2018-318650
Article
PubMed
Google Scholar
Martinez Z, Zhu M, Han S, Fink AL (2007) GM1 specifically interacts with α-Synuclein and inhibits fibrillation. Biochemistry 46:1868–77. https://doi.org/10.1021/bi061749a
Moors TE, Paciotti S, Ingrassia A, Quadri M, Breedveld G, Tasegian A, Chiasserini D, Eusebi P, Duran-Pacheco G, Kremer T, Calabresi P, Bonifati V, Parnetti L, Beccari T, van de Berg WDJ (2019) Characterization of brain Lysosomal activities in GBA-related and sporadic Parkinson’s disease and dementia with Lewy bodies. Mol Neurobiol 56:1344–1355. https://doi.org/10.1007/s12035-018-1090-0
Article
CAS
PubMed
Google Scholar
Neville DCA, Coquard V, Priestman DA, te Vruchte DJM, Sillence DJ, Dwek RA, Platt FM, Butters TD (2004) Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling. Anal Biochem 331:275–282. https://doi.org/10.1016/j.ab.2004.03.051
Article
CAS
PubMed
Google Scholar
Niimi K, Nishioka C, Miyamoto T, Takahashi E, Miyoshi I, Itakura C, Yamashita T (2011) Impairment of neuropsychological behaviors in ganglioside GM3-knockout mice. Biochem Biophys Res Commun 406:524–528. https://doi.org/10.1016/j.bbrc.2011.02.071
Article
CAS
PubMed
Google Scholar
Nübling GS, Levin J, Bader B, Lorenzl S, Hillmer A, Högen T, Kamp F, Giese A (2014) Modelling Ser129 phosphorylation inhibits membrane binding of pore-forming alpha-Synuclein oligomers. PLoS One 9:e98906. https://doi.org/10.1371/journal.pone.0098906
Article
CAS
PubMed
PubMed Central
Google Scholar
Parenti G, Andria G, Ballabio A (2015) Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med 66:471–486. https://doi.org/10.1146/annurev-med-122313-085916
Article
CAS
PubMed
Google Scholar
Perez XA, Parameswaran N, Huang LZ, O’Leary KT, Quik M (2008) Pre-synaptic dopaminergic compensation after moderate nigrostriatal damage in non-human primates. J Neurochem 105:1861–1872. https://doi.org/10.1111/j.1471-4159.2008.05268.x
Article
CAS
PubMed
PubMed Central
Google Scholar
Platt FM (2014) Sphingolipid lysosomal storage disorders. Nature 510:68–75. https://doi.org/10.1038/nature13476
Article
CAS
PubMed
Google Scholar
Poewe W, Seppi K, Tanner CM, Halliday GM, Brundin P, Volkmann J, Schrag A-E, Lang AE (2017) Parkinson disease. Nat Rev Dis Primer 3:17013. https://doi.org/10.1038/nrdp.2017.13
Article
Google Scholar
Reynolds RH, Botía J, Nalls MA, Hardy J, Taliun SAG, Ryten M (2019) Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability. Npj Park Dis 5:1–14. https://doi.org/10.1038/s41531-019-0076-6
Article
Google Scholar
Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J, Heutink P, Shulman JM, International Parkinson’s Disease Genomics Consortium (IPDGC), Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin U-M, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Arepalli S, Barker R, Ben- Y, Berendse HW, Berg D, Bhatia K, RMA d B, Biffi A, Bloem B, Bochdanovits Z, Bonin M, Bras JM, Brockmann K, Brooks J, Burn DJ, Majounie E, Charlesworth G, Lungu C, Chen H, Chinnery PF, Chong S, Clarke CE, Cookson MR, Mark Cooper J, Corvol JC, Counsell C, Damier P, Dartigues J-F, Deloukas P, Deuschl G, Dexter DT, van Dijk KD, Dillman A, Durif F, Dürr A, Edkins S, Evans JR, Foltynie T, Dong J, Gardner M, Raphael Gibbs J, Goate A, Gray E, Guerreiro R, Harris C, van Hilten JJ, Hofman A, Hollenbeck A, Holton J, Hu M, Huang X, Wurster I, Mätzler W, Hudson G, Hunt SE, Huttenlocher J, Illig T, Jónsson PV, Lambert J-C, Langford C, Lees A, Lichtner P, Limousin P, Lopez G, Lorenz D, Lungu C, McNeill A, Moorby C, Moore M, Morris HR, Morrison KE, Escott-Price V, Mudanohwo E, O’Sullivan SS, Pearson J, Perlmutter JS, Pétursson H, Pollak P, Post B, Potter S, Ravina B, Revesz T, Riess O, Rivadeneira F, Rizzu P, Ryten M, Sawcer S, Schapira A, Scheffer H, Shaw K, Shoulson I, Shulman J, Sidransky E, Smith C, CCA S, Stefánsson H, Bettella F, Stockton JD, Strange A, Talbot K, Tanner CM, Tashakkori-Ghanbaria A, Tison F, Trabzuni D, Traynor BJ, Uitterlinden AG, Velseboer D, Vidailhet M, Walker R, van de Warrenburg B, Wickremaratchi M, Williams N, Williams-Gray CH, Winder-Rhodes S, Stefánsson K, Martinez M, Wood NW, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB (2017) Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease. Brain 140:3191–3203. https://doi.org/10.1093/brain/awx285
Article
PubMed
PubMed Central
Google Scholar
Rocha EM, Smith GA, Park E, Cao H, Brown E, Hallett P, Isacson O (2015) Progressive decline of glucocerebrosidase in aging and Parkinson’s disease. Ann Clin Transl Neurol 2:433–438. https://doi.org/10.1002/acn3.177
Article
PubMed
PubMed Central
Google Scholar
Rocha EM, Smith GA, Park E, Cao H, Graham A-R, Brown E, McLean JR, Hayes MA, Beagan J, Izen SC, Perez-Torres E, Hallett PJ, Isacson O (2015) Sustained systemic Glucocerebrosidase inhibition induces brain α-Synuclein aggregation, microglia and complement C1q activation in mice. Antioxid Redox Signal 23:550–564. https://doi.org/10.1089/ars.2015.6307
Article
CAS
PubMed
PubMed Central
Google Scholar
Sandhoff K, Harzer K (2013) Gangliosides and Gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci 33:10195–10208. https://doi.org/10.1523/JNEUROSCI.0822-13.2013
Article
CAS
PubMed
PubMed Central
Google Scholar
Sandhoff K, Harzer K, Wässle W, Jatzkewitz H (1971) Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J Neurochem 18:2469–2489. https://doi.org/10.1111/j.1471-4159.1971.tb00204.x
Article
CAS
PubMed
Google Scholar
Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, Westphal H, McDonald MP, Crawley JN, Sandhoff K, Suzuki K, Proia RL (1995) Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet 11:170–176. https://doi.org/10.1038/ng1095-170
Article
CAS
PubMed
Google Scholar
Schneider JS (2018) Altered expression of genes involved in ganglioside biosynthesis in substantia nigra neurons in Parkinson’s disease. PLoS One 13:e0199189. https://doi.org/10.1371/journal.pone.0199189
Article
CAS
PubMed
PubMed Central
Google Scholar
Shahmoradian SH, Lewis AJ, Genoud C, Hench J, Moors TE, Navarro PP, Castaño-Díez D, Schweighauser G, Graff-Meyer A, Goldie KN, Sütterlin R, Huisman E, Ingrassia A, de Gier Y, Rozemuller AJM, Wang J, Paepe AD, Erny J, Staempfli A, Hoernschemeyer J, Großerüschkamp F, Niedieker D, El-Mashtoly SF, Quadri M, IJcken WFJV, Bonifati V, Gerwert K, Bohrmann B, Frank S, Britschgi M, Stahlberg H, de Berg WDJV, Lauer ME (2019) Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes. Nat Neurosci 22:1099. https://doi.org/10.1038/s41593-019-0423-2
Article
CAS
PubMed
Google Scholar
Sharon R, Goldberg MS, Bar-Josef I, Betensky RA, Shen J, Selkoe DJ (2001) α-Synuclein occurs in lipid-rich high molecular weight complexes, binds fatty acids, and shows homology to the fatty acid-binding proteins. Proc Natl Acad Sci U S A 98:9110–9115. https://doi.org/10.1073/pnas.171300598
Article
CAS
PubMed
PubMed Central
Google Scholar
Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen C-M, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung H-C, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen G-J, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan E-K, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu Y-R, Zabetian CP, Zhao Y, Ziegler SG (2009) Multicenter analysis of Glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med 361:1651–1661. https://doi.org/10.1056/NEJMoa0901281
Article
CAS
PubMed
PubMed Central
Google Scholar
Mauri L, Sonnino S, Prinetti A (2018) Chemical and Physicochemical Properties of Gangliosides. Methods Mol Biol 1804:1–17. https://doi.org/10.1007/978-1-4939-8552-4_1.
Suzuki K, Iseki E, Togo T, Yamaguchi A, Katsuse O, Katsuyama K, Kanzaki S, Shiozaki K, Kawanishi C, Yamashita S, Tanaka Y, Yamanaka S, Hirayasu Y (2007) Neuronal and glial accumulation of α- and β-synucleins in human lipidoses. Acta Neuropathol (Berl) 114:481–489. https://doi.org/10.1007/s00401-007-0264-z
Article
CAS
Google Scholar
Suzuki K, Yamaguchi A, Yamanaka S, Kanzaki S, Kawashima M, Togo T, Katsuse O, Koumitsu N, Aoki N, Iseki E, Kosaka K, Yamaguchi K, Hashimoto M, Aoki I, Hirayasu Y (2016) Accumulated α-synuclein affects the progression of GM2 gangliosidoses. Exp Neurol 284, part a:38–49. https://doi.org/10.1016/j.expneurol.2016.07.011
Ulusoy A, Bjorklund T, Hermening S, Kirik D (2008) In vivo gene delivery for development of mammalian models for Parkinson’s disease. Exp Neurol 209:89–100. https://doi.org/10.1016/j.expneurol.2007.09.011
Article
CAS
PubMed
Google Scholar
Wendeler M, Sandhoff K (2009) Hexosaminidase assays. Glycoconj J N Y 26:945–52. https://doi.org/10.1007/s10719-008-9137-5.
Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A, Colegial C, Allman JM, Schiffmann R (2004) Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 82:192–207. https://doi.org/10.1016/j.ymgme.2004.04.011
Article
CAS
PubMed
Google Scholar
Wu G, Lu Z-H, Kulkarni N, Amin R, Ledeen RW (2011) Mice lacking major brain Gangliosides develop parkinsonism. Neurochem Res 36(9):1706-14. https://doi.org/10.1007/s11064-011-0437-y..
Xilouri M, Brekk OR, Landeck N, Pitychoutis PM, Papasilekas T, Papadopoulou-Daifoti Z, Kirik D, Stefanis L (2013) Boosting chaperone-mediated autophagy in vivo mitigates α-synuclein-induced neurodegeneration. Brain 136:2130–46. https://doi.org/10.1093/brain/awt131
Yoshikawa M, Go S, Takasaki K, Kakazu Y, Ohashi M, Nagafuku M, Kabayama K, Sekimoto J, Suzuki S, Takaiwa K, Kimitsuki T, Matsumoto N, Komune S, Kamei D, Saito M, Fujiwara M, Iwasaki K, Inokuchi J (2009) Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti. Proc Natl Acad Sci 106:9483–9488. https://doi.org/10.1073/pnas.0903279106
Article
PubMed
Google Scholar
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D. et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol 2019;18(12):1091-102. https://doi.org/10.1016/S1474-4422(19)30320-5.