SNCA c.385_387delinsGAG ;(p.S129E)

Variant ID: 4-90650348-AGA-CTC

NM_000345.3(SNCA):c.385_387delinsGAG;(p.S129E)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Determining the Location of the α-Synuclein Dimer Interface Using Native Top-Down Fragmentation and Isotope Depletion-Mass Spectrometry.

Journal Of The American Society For Mass Spectrometry
Jeacock, Kiani K; Chappard, Alexandre A; Gallagher, Kelly J KJ; Mackay, C Logan CL; Kilgour, David P A DPA; Horrocks, Mathew H MH; Kunath, Tilo T; Clarke, David J DJ
Publication Date: 2023-03-28

Variant appearance in text: SNCA: S129E
PubMed Link: 36976861
Variant Present in the following documents:
  • js2c00339.pdf
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Dynamic physiological α-synuclein S129 phosphorylation is driven by neuronal activity.

Npj Parkinson'S Disease
Ramalingam, Nagendran N; Jin, Shan-Xue SX; Moors, Tim E TE; Fonseca-Ornelas, Luis L; Shimanaka, Kazuma K; Lei, Shi S; Cam, Hugh P HP; Watson, Aurelia Hays AH; Brontesi, Lisa L; Ding, Lai L; Hacibaloglu, Dinc Yasat DY; Jiang, Haiyang H; Choi, Se Joon SJ; Kanter, Ellen E; Liu, Lei L; Bartels, Tim T; Nuber, Silke S; Sulzer, David D; Mosharov, Eugene V EV; Chen, Weisheng V WV; Li, Shaomin S; Selkoe, Dennis J DJ; Dettmer, Ulf U
Publication Date: 2023-01-16

Variant appearance in text: SNCA: S129E
PubMed Link: 36646701
Variant Present in the following documents:
  • 41531_2023_Article_444.pdf
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Decoding the Role of Familial Parkinson's Disease-Related Genes in DNA Damage and Repair.

Aging And Disease
Li, Yao-Lin YL; Wang, Zhong-Xuan ZX; Ying, Chang-Zhou CZ; Zhang, Bao-Rong BR; Pu, Jia-Li JL
Publication Date: 2022-10-01

Variant appearance in text: SNCA: S129E
PubMed Link: 36186134
Variant Present in the following documents:
  • Main text
  • ad-13-5-1405.pdf
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α-synuclein buildup is alleviated via ESCRT-dependent endosomal degradation brought about by p38MAPK inhibition in cells expressing p25α.

The Journal Of Biological Chemistry
Borland, Helena H; Rasmussen, Izabela I; Bjerregaard-Andersen, Kaare K; Rasmussen, Michel M; Olsen, Anders A; Vilhardt, Frederik F
Publication Date: 2022-11

Variant appearance in text: SNCA: S129E
PubMed Link: 36162505
Variant Present in the following documents:
  • main.pdf
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Propagation of Parkinson's disease by extracellular vesicle production and secretion.

Biochemical Society Transactions
Shippey, Laura E LE; Campbell, Susan G SG; Hill, Andrew F AF; Smith, David P DP
Publication Date: 2022-10-31

Variant appearance in text: SNCA: S129E
PubMed Link: 36111783
Variant Present in the following documents:
  • Main text
  • BST-50-1303.pdf
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Modulation of α-Synuclein Aggregation In Vitro by a DNA Aptamer.

Biochemistry
Tran, Claire H CH; Saha, Ranajay R; Blanco, Celia C; Bagchi, Damayanti D; Chen, Irene A IA
Publication Date: 2022-09-06

Variant appearance in text: SNCA: S129E
PubMed Link: 35994742
Variant Present in the following documents:
  • bi2c00207.pdf
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Phosphorylation of the aggregate-forming protein alpha-synuclein on serine-129 inhibits its DNA-bending properties.

The Journal Of Biological Chemistry
Dent, Sydney E SE; King, Dennisha P DP; Osterberg, Valerie R VR; Adams, Eleanor K EK; Mackiewicz, Marilyn R MR; Weissman, Tamily A TA; Unni, Vivek K VK
Publication Date: 2021-12-29

Variant appearance in text: SNCA: S129E
PubMed Link: 34973339
Variant Present in the following documents:
  • main.pdf
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Phosphorylation of the aggregate-forming protein alpha-synuclein on serine-129 inhibits its DNA-bending properties.

The Journal Of Biological Chemistry
Dent, Sydney E SE; King, Dennisha P DP; Osterberg, Valerie R VR; Adams, Eleanor K EK; Mackiewicz, Marilyn R MR; Weissman, Tamily A TA; Unni, Vivek K VK
Publication Date: 2022-02

Variant appearance in text: SNCA: S129E
PubMed Link: 34973339
Variant Present in the following documents:
  • main.pdf
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Tyrosine 136 phosphorylation of α-synuclein aggregates in the Lewy body dementia brain: involvement of serine 129 phosphorylation by casein kinase 2.

Acta Neuropathologica Communications
Sano, Kazunori K; Iwasaki, Yasushi Y; Yamashita, Yuta Y; Irie, Keiichi K; Hosokawa, Masato M; Satoh, Katsuya K; Mishima, Kenichi K
Publication Date: 2021-11-12

Variant appearance in text: SNCA: S129E
PubMed Link: 34772466
Variant Present in the following documents:
  • 40478_2021_Article_1281.pdf
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Unzipping the Secrets of Amyloid Disassembly by the Human Disaggregase.

Cells
Franco, Aitor A; Velasco-Carneros, Lorea L; Alvarez, Naiara N; Orozco, Natalia N; Moro, Fernando F; Prado, Adelina A; Muga, Arturo A
Publication Date: 2021-10-14

Variant appearance in text: SNCA: S129E
PubMed Link: 34685723
Variant Present in the following documents:
  • Main text
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Polo-like kinase 2 inhibition reduces serine-129 phosphorylation of physiological nuclear alpha-synuclein but not of the aggregated alpha-synuclein.

Plos One
Elfarrash, Sara S; Jensen, Nanna Møller NM; Ferreira, Nelson N; Schmidt, Sissel Ida SI; Gregersen, Emil E; Vestergaard, Marie Vibeke MV; Nabavi, Sadegh S; Meyer, Morten M; Jensen, Poul Henning PH
Publication Date: 2021

Variant appearance in text: SNCA: S129E
PubMed Link: 34613964
Variant Present in the following documents:
  • pone.0252635.pdf
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Differential mitochondrial roles for α-synuclein in DRP1-dependent fission and PINK1/Parkin-mediated oxidation.

Cell Death & Disease
Krzystek, Thomas J TJ; Banerjee, Rupkatha R; Thurston, Layne L; Huang, JianQiao J; Swinter, Kelsey K; Rahman, Saad Navid SN; Falzone, Tomas L TL; Gunawardena, Shermali S
Publication Date: 2021-08-17

Variant appearance in text: SNCA: S129E
PubMed Link: 34404758
Variant Present in the following documents:
  • Main text
  • 41419_2021_Article_4046.pdf
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"Janus-Faced" α-Synuclein: Role in Parkinson's Disease.

Frontiers In Cell And Developmental Biology
Ray, Bipul B; Mahalakshmi, Arehally M AM; Tuladhar, Sunanda S; Bhat, Abid A; Srinivasan, Asha A; Pellegrino, Christophe C; Kannan, Anbarasu A; Bolla, Srinivasa Rao SR; Chidambaram, Saravana Babu SB; Sakharkar, Meena Kishore MK
Publication Date: 2021

Variant appearance in text: SNCA: S129E
PubMed Link: 34124057
Variant Present in the following documents:
  • fcell-09-673395.pdf
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Neurons and Glia Interplay in α-Synucleinopathies.

International Journal Of Molecular Sciences
Mavroeidi, Panagiota P; Xilouri, Maria M
Publication Date: 2021-05-08

Variant appearance in text: SNCA: S129E
PubMed Link: 34066733
Variant Present in the following documents:
  • Main text
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The Convergence of Alpha-Synuclein, Mitochondrial, and Lysosomal Pathways in Vulnerability of Midbrain Dopaminergic Neurons in Parkinson's Disease.

Frontiers In Cell And Developmental Biology
Minakaki, Georgia G; Krainc, Dimitri D; Burbulla, Lena F LF
Publication Date: 2020

Variant appearance in text: SNCA: S129E
PubMed Link: 33381501
Variant Present in the following documents:
  • Main text
  • fcell-08-580634.pdf
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Interaction of Alpha-Synuclein With Lipids: Mitochondrial Cardiolipin as a Critical Player in the Pathogenesis of Parkinson's Disease.

Frontiers In Neuroscience
Gilmozzi, Valentina V; Gentile, Giovanna G; Castelo Rueda, Maria Paulina MP; Hicks, Andrew A AA; Pramstaller, Peter P PP; Zanon, Alessandra A; Lévesque, Martin M; Pichler, Irene I
Publication Date: 2020

Variant appearance in text: SNCA: S129E
PubMed Link: 33122994
Variant Present in the following documents:
  • Main text
  • fnins-14-578993.pdf
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In Search of Effective Treatments Targeting α-Synuclein Toxicity in Synucleinopathies: Pros and Cons.

Frontiers In Cell And Developmental Biology
Fouka, Maria M; Mavroeidi, Panagiota P; Tsaka, Grigoria G; Xilouri, Maria M
Publication Date: 2020

Variant appearance in text: SNCA: S129E
PubMed Link: 33015057
Variant Present in the following documents:
  • fcell-08-559791.pdf
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Extent of N-terminus exposure of monomeric alpha-synuclein determines its aggregation propensity.

Nature Communications
Stephens, Amberley D AD; Zacharopoulou, Maria M; Moons, Rani R; Fusco, Giuliana G; Seetaloo, Neeleema N; Chiki, Anass A; Woodhams, Philippa J PJ; Mela, Ioanna I; Lashuel, Hilal A HA; Phillips, Jonathan J JJ; De Simone, Alfonso A; Sobott, Frank F; Schierle, Gabriele S Kaminski GSK
Publication Date: 2020-06-04

Variant appearance in text: SNCA: S129E
PubMed Link: 32499486
Variant Present in the following documents:
  • 41467_2020_Article_16564.pdf
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Carboxy-terminal truncation and phosphorylation of α-synuclein elongates survival in a prion-like seeding mouse model of synucleinopathy.

Neuroscience Letters
Sorrentino, Zachary A ZA; Hass, Ethan E; Vijayaraghavan, Niran N; Gorion, Kimberly-Marie KM; Riffe, Cara J CJ; Dhillon, Jess-Karan S JS; Giasson, Benoit I BI
Publication Date: 2020-07-27

Variant appearance in text: SNCA: S129E
PubMed Link: 32371157
Variant Present in the following documents:
  • Main text
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Alpha-Synuclein Physiology and Pathology: A Perspective on Cellular Structures and Organelles.

Frontiers In Neuroscience
Bernal-Conde, Luis D LD; Ramos-Acevedo, Rodrigo R; Reyes-Hernández, Mario A MA; Balbuena-Olvera, Andrea J AJ; Morales-Moreno, Ishbelt D ID; Argüero-Sánchez, Rubén R; Schüle, Birgitt B; Guerra-Crespo, Magdalena M
Publication Date: 2019

Variant appearance in text: SNCA: S129E
PubMed Link: 32038126
Variant Present in the following documents:
  • Main text
  • fnins-13-01399.pdf
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Pathogenic alpha-synuclein aggregates preferentially bind to mitochondria and affect cellular respiration.

Acta Neuropathologica Communications
Wang, Xinhe X; Becker, Katelyn K; Levine, Nathan N; Zhang, Michelle M; Lieberman, Andrew P AP; Moore, Darren J DJ; Ma, Jiyan J
Publication Date: 2019-03-14

Variant appearance in text: SNCA: S129E
PubMed Link: 30871620
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_696.pdf
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Living in Promiscuity: The Multiple Partners of Alpha-Synuclein at the Synapse in Physiology and Pathology.

International Journal Of Molecular Sciences
Longhena, Francesca F; Faustini, Gaia G; Spillantini, Maria Grazia MG; Bellucci, Arianna A
Publication Date: 2019-01-02

Variant appearance in text: NACP: S129E
PubMed Link: 30609739
Variant Present in the following documents:
  • ijms-20-00141.pdf
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The Close Encounter Between Alpha-Synuclein and Mitochondria.

Frontiers In Neuroscience
Vicario, Mattia M; Cieri, Domenico D; Brini, Marisa M; Calì, Tito T
Publication Date: 2018

Variant appearance in text: SNCA: S129E
PubMed Link: 29930495
Variant Present in the following documents:
  • Main text
  • fnins-12-00388.pdf
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Alpha-Synuclein: From Early Synaptic Dysfunction to Neurodegeneration.

Frontiers In Neurology
Ghiglieri, Veronica V; Calabrese, Valeria V; Calabresi, Paolo P
Publication Date: 2018

Variant appearance in text: SNCA: S129E
PubMed Link: 29780350
Variant Present in the following documents:
  • fneur-09-00295.pdf
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Can Interactions Between α-Synuclein, Dopamine and Calcium Explain Selective Neurodegeneration in Parkinson's Disease?

Frontiers In Neuroscience
Post, Michael R MR; Lieberman, Ori J OJ; Mosharov, Eugene V EV
Publication Date: 2018

Variant appearance in text: SNCA: S129E
PubMed Link: 29593491
Variant Present in the following documents:
  • Main text
  • fnins-12-00161.pdf
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Identification of a highly neurotoxic α-synuclein species inducing mitochondrial damage and mitophagy in Parkinson's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Grassi, Diego D; Howard, Shannon S; Zhou, Minghai M; Diaz-Perez, Natalia N; Urban, Nicolai T NT; Guerrero-Given, Debbie D; Kamasawa, Naomi N; Volpicelli-Daley, Laura A LA; LoGrasso, Philip P; Lasmézas, Corinne Ida CI
Publication Date: 2018-03-13

Variant appearance in text: SNCA: S129E
PubMed Link: 29487216
Variant Present in the following documents:
  • Main text
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Post translational changes to α-synuclein control iron and dopamine trafficking; a concept for neuron vulnerability in Parkinson's disease.

Molecular Neurodegeneration
Duce, James A JA; Wong, Bruce X BX; Durham, Hannah H; Devedjian, Jean-Christophe JC; Smith, David P DP; Devos, David D
Publication Date: 2017-06-07

Variant appearance in text: SNCA: S129E
PubMed Link: 28592304
Variant Present in the following documents:
  • 13024_2017_Article_186.pdf
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α-Synuclein binds to TOM20 and inhibits mitochondrial protein import in Parkinson's disease.

Science Translational Medicine
Di Maio, Roberto R; Barrett, Paul J PJ; Hoffman, Eric K EK; Barrett, Caitlyn W CW; Zharikov, Alevtina A; Borah, Anupom A; Hu, Xiaoping X; McCoy, Jennifer J; Chu, Charleen T CT; Burton, Edward A EA; Hastings, Teresa G TG; Greenamyre, J Timothy JT
Publication Date: 2016-06-08

Variant appearance in text: SNCA: S129E
PubMed Link: 27280685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthetic Proteins and Peptides for the Direct Interrogation of α-Synuclein Posttranslational Modifications.

Biomolecules
Pratt, Matthew R MR; Abeywardana, Tharindumala T; Marotta, Nicholas P NP
Publication Date: 2015-06-25

Variant appearance in text: SNCA: S129E
PubMed Link: 26120904
Variant Present in the following documents:
  • Main text
  • biomolecules-05-01210.pdf
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Systematic comparison of the effects of alpha-synuclein mutations on its oligomerization and aggregation.

Plos Genetics
Lázaro, Diana F DF; Rodrigues, Eva F EF; Langohr, Ramona R; Shahpasandzadeh, Hedieh H; Ribeiro, Thales T; Guerreiro, Patrícia P; Gerhardt, Ellen E; Kröhnert, Katharina K; Klucken, Jochen J; Pereira, Marcos D MD; Popova, Blagovesta B; Kruse, Niels N; Mollenhauer, Brit B; Rizzoli, Silvio O SO; Braus, Gerhard H GH; Danzer, Karin M KM; Outeiro, Tiago F TF
Publication Date: 2014-11

Variant appearance in text: SNCA: S129E
PubMed Link: 25393002
Variant Present in the following documents:
  • pgen.1004741.pdf
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Novel AAV-based rat model of forebrain synucleinopathy shows extensive pathologies and progressive loss of cholinergic interneurons.

Plos One
Aldrin-Kirk, Patrick P; Davidsson, Marcus M; Holmqvist, Staffan S; Li, Jia-Yi JY; Björklund, Tomas T
Publication Date: 2014

Variant appearance in text: SNCA: S129E
PubMed Link: 24999658
Variant Present in the following documents:
  • pone.0100869.pdf
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Phosphorylation modulates clearance of alpha-synuclein inclusions in a yeast model of Parkinson's disease.

Plos Genetics
Tenreiro, Sandra S; Reimão-Pinto, Madalena M MM; Antas, Pedro P; Rino, José J; Wawrzycka, Donata D; Macedo, Diana D; Rosado-Ramos, Rita R; Amen, Triana T; Waiss, Meytal M; Magalhães, Filipa F; Gomes, Andreia A; Santos, Cláudia N CN; Kaganovich, Daniel D; Outeiro, Tiago Fleming TF
Publication Date: 2014-05

Variant appearance in text: SNCA: S129E
PubMed Link: 24810576
Variant Present in the following documents:
  • Main text
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Suppression of α-synuclein toxicity and vesicle trafficking defects by phosphorylation at S129 in yeast depends on genetic context.

Human Molecular Genetics
Sancenon, Vicente V; Lee, Sue-Ann SA; Patrick, Christina C; Griffith, Janice J; Paulino, Amy A; Outeiro, Tiago F TF; Reggiori, Fulvio F; Masliah, Eliezer E; Muchowski, Paul J PJ
Publication Date: 2012-06-01

Variant appearance in text: SNCA: S129E
PubMed Link: 22357655
Variant Present in the following documents:
  • Main text
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alpha-Synuclein and neuronal cell death.

Molecular Neurodegeneration
Cookson, Mark R MR
Publication Date: 2009-02-04

Variant appearance in text: SNCA: S129E
PubMed Link: 19193223
Variant Present in the following documents:
  • Main text
  • 1750-1326-4-9.pdf
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Phosphorylation at Ser-129 but not the phosphomimics S129E/D inhibits the fibrillation of alpha-synuclein.

The Journal Of Biological Chemistry
Paleologou, Katerina E KE; Schmid, Adrian W AW; Rospigliosi, Carla C CC; Kim, Hai-Young HY; Lamberto, Gonzalo R GR; Fredenburg, Ross A RA; Lansbury, Peter T PT; Fernandez, Claudio O CO; Eliezer, David D; Zweckstetter, Markus M; Lashuel, Hilal A HA
Publication Date: 2008-06-13

Variant appearance in text: SNCA: S129E
PubMed Link: 18343814
Variant Present in the following documents:
  • Main text
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