Lamotte, G. and Singer, W., Synucleinopathies, Handb. Clin. Neurol., 2023, vol. 196, pp. 175–202. https://doi.org/10.1016/B978-0-323-98817-9.00032-6
Fanciulli, A. and Wenning, G.K., Multiple-system atrophy, N. Engl. J. Med., 2015, vol. 372, no. 14, pp. 1375–1376. https://doi.org/10.1056/NEJMc1501657
Poewe, W., Seppi, K., Tanner, C.M., et al., Parkinson disease, Nat. Rev. Dis. Primers, 2017, vol. 3, p. 17013. https://doi.org/10.1038/nrdp.2017.13
Ahmed, Z., Asi, Y.T., Sailer, A., et al., The neuropathology, pathophysiology and genetics of multiple system atrophy, Neuropathol. Appl. Neurobiol., 2012, vol. 38, no. 1, pp. 4–24. https://doi.org/10.1111/j.1365-2990.2011.01234.x
Article CAS PubMed Google Scholar
Schweighauser, M., Shi, Y., Tarutani, A., et al., Structures of α-synuclein filaments from multiple system atrophy, Nature, 2020, vol. 585, no. 7825, pp. 464–469. https://doi.org/10.1038/s41586-020-2317-6
Article CAS PubMed PubMed Central Google Scholar
Yang, Y., Shi, Y., Schweighauser, M., et al., Structures of α-synuclein filaments from human brains with Lewy pathology, Nature, 2022, vol. 610, no. 7933, pp. 791–795. https://doi.org/10.1038/s41586-022-05319-3
Article CAS PubMed PubMed Central Google Scholar
Kim, S., Jeon, B.S., Heo, C., et al., Alpha-synuclein induces apoptosis by altered expression in human peripheral lymphocyte in Parkinson’s disease, FASEB J., 2004, vol. 18, no. 13, pp. 1615–1617. https://doi.org/10.1096/fj.04-1917fje
Article CAS PubMed Google Scholar
Shin, E.C., Cho, S.E., Lee, D.K., et al., Expression patterns of alpha-synuclein in human hematopoietic cells and in Drosophila at different developmental stages, Mol. Cells, 2000, vol. 10, no. 1, pp. 65–70. https://doi.org/10.1007/s10059-000-0065-x
Article CAS PubMed Google Scholar
Hashimoto, M., Yoshimoto, M., Sisk, A., et al., NACP, a synaptic protein involved in Alzheimer’s disease, is differentially regulated during megakaryocyte differentiation, Biochem. Biophys. Res. Commun., 1997, vol. 237, no. 3, pp. 611–616. https://doi.org/10.1006/bbrc.1997.6978
Article CAS PubMed Google Scholar
Li, Q.X., Campbell, B.C., McLean, C.A., et al., Platelet alpha- and gamma-synucleins in Parkinson’s disease and normal control subjects, J. Alzheimer’s Dis., 2002, vol. 4, no. 4, pp. 309–315. https://doi.org/10.3233/jad-2002-4406
Barbour, R., Kling, K., Anderson, J.P., et al., Red blood cells are the major source of alpha-synuclein in blood, Neurodegener. Dis., 2008, vol. 5, no. 2, pp. 55–59. https://doi.org/10.1159/000112832
Article CAS PubMed Google Scholar
Kaur, U. and Lee, J.C., Membrane interactions of α-synuclein probed by neutrons and photons, Acc. Chem. Res., 2021, vol. 54, no. 2, pp. 302–310. https://doi.org/10.1021/acs.accounts.0c00453
Article CAS PubMed PubMed Central Google Scholar
Pfefferkorn, C.M., Jiang, Z., and Lee, J.C., Biophysics of α-synuclein membrane interactions, Biochim. Biophys. Acta, 2012, vol. 1818, no. 2, pp. 162–171. https://doi.org/10.1016/j.bbamem.2011.07.032
Article CAS PubMed Google Scholar
Serpell, L.C., Berriman, J., Jakes, R., et al., Fiber diffraction of synthetic alpha-synuclein filaments shows amyloid-like cross-beta conformation, Proc. Natl. Acad. Sci. U. S. A., 2000, vol. 97, no. 9, pp. 4897–4902. https://doi.org/10.1073/pnas.97.9.4897
Article CAS PubMed PubMed Central Google Scholar
Conway, K.A., Harper, J.D., and Lansbury, P.T., Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease, Nat. Med., 1998, vol. 4, no. 11, pp. 1318–1320. https://doi.org/10.1038/3311
Article CAS PubMed Google Scholar
Greenbaum, E.A., Graves, C.L., Mishizen-Eberz, A.J., et al., The E46K mutation in alpha-synuclein increases amyloid fibril formation, J. Biol. Chem., 2005, vol. 280, no. 9, pp. 7800–7807. https://doi.org/10.1074/jbc.M411638200
Article CAS PubMed Google Scholar
Ghosh, D., Mondal, M., Mohite, G.M., et al., The Parkinson’s disease-associated H50Q mutation accelerates α-synuclein aggregation in vitro, Biochemistry, 2013, vol. 52, no. 40, pp. 6925–6927. https://doi.org/10.1021/bi400999d
Article CAS PubMed Google Scholar
Mokretar, K., Pease, D., Taanman, J.W., et al., Somatic copy number gains of α-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains, Brain, 2018, vol. 141, no. 8, pp. 2419–2431. https://doi.org/10.1093/brain/awy157
Gámez-Valero, A. and Beyer, K., Alternative splicing of alpha- and beta-synuclein genes plays differential roles in synucleinopathies, Genes (Basel), 2018, vol. 9, no. 2, p. 63. https://doi.org/10.3390/genes9020063
Article CAS PubMed PubMed Central Google Scholar
SanGiovanni, D.Q., McGlinchey, R.P., and Lee, J.C., Amyloid formation of alternatively spliced variants of α-synuclein, Protein Sci., 2025, vol. 34, no. 7, p. 70195. https://doi.org/10.1002/pro.70195
Huang, F., Yan, J., Xu, H., et al., Exploring the impact of physiological C-terminal truncation on α-synuclein conformations to unveil mechanisms regulating pathological aggregation, J. Chem. Inf. Model., 2024, vol. 64, no. 22, pp. 8616–8627. https://doi.org/10.1021/acs.jcim.4c01839
Article CAS PubMed PubMed Central Google Scholar
Kim, A., Martinez-Valbuena, I., Danics, K., et al., Contribution of α-synuclein cytopathologies to distinct seeding of misfolded α-synuclein, Brain Pathol., 2025, vol. 35, no. 6, p. e70024. https://doi.org/10.1111/bpa.70024
Article CAS PubMed PubMed Central Google Scholar
Postuma, R.B., Berg, D., Stern, M., et al., MDS clinical diagnostic criteria for Parkinson’s disease, Mov. Disord., 2015, vol. 30, no. 12, pp. 1591–1601. https://doi.org/10.1002/mds.26424
Wenning, G.K., Stankovic, I., Vignatelli, L., et al., The movement disorder society criteria for the diagnosis of multiple system atrophy, Mov. Disord., 2022, vol. 37, no. 6, pp. 1131–1148. https://doi.org/10.1002/mds.29005
Article PubMed PubMed Central Google Scholar
Hoehn, M.M. and Yahr, M.D., Parkinsonism: onset, progression and mortality, Neurology, 1967, vol. 17, no. 5, pp. 427–442. https://doi.org/10.1212/wnl.17.5.427
Article CAS PubMed Google Scholar
Livak, K.J. and Schmittgen, T.D., Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method, Methods, 2001, vol. 25, no. 4, pp. 402–408. https://doi.org/10.1006/meth.2001.1262
Article CAS PubMed Google Scholar
Xia, Y., Saitoh, T., Ueda, K., et al., Characterization of the human alpha-synuclein gene: genomic structure, transcription start site, promoter region and polymorphisms, J. Alzheimer’s Dis., 2001, vol. 3, no. 5, pp. 485–494. https://doi.org/10.3233/jad-2001-3508
Bungeroth, M., Appenzeller, S., Regulin, A., et al., Differential aggregation properties of alpha-synuclein isoforms, Neurobiol. Aging, 2014, vol. 35, no. 8, pp. 1913–1919. https://doi.org/10.1016/j.neurobiolaging.2014.02.009
Article CAS PubMed Google Scholar
Röntgen, A., Toprakcioglu, Z., Tomkins, J.E., and Vendruscolo, M., Modulation of α-synuclein in vitro aggregation kinetics by its alternative splice isoforms, Proc. Natl. Acad. Sci. U. S. A., 2024, vol. 121, no. 7, p. 2313465121. https://doi.org/10.1073/pnas.2313465121
Comments (0)