SNCA c.52G>A ;(p.A18T)

Variant ID: 4-90756767-C-T

NM_000345.3(SNCA):c.52G>A;(p.A18T)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Genes
Kim, Jeffrey J; Daadi, Etienne W EW; Oh, Thomas T; Daadi, Elyas S ES; Daadi, Marcel M MM
Publication Date: 2022-10-25

Variant appearance in text: SNCA: A18T
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
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Mechanisms of enhanced aggregation and fibril formation of Parkinson's disease-related variants of α-synuclein.

Scientific Reports
Ohgita, Takashi T; Namba, Norihiro N; Kono, Hiroki H; Shimanouchi, Toshinori T; Saito, Hiroyuki H
Publication Date: 2022-04-26

Variant appearance in text: SNCA: A18T
PubMed Link: 35474118
Variant Present in the following documents:
  • 41598_2022_Article_10789.pdf
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Ferritinophagy and α-Synuclein: Pharmacological Targeting of Autophagy to Restore Iron Regulation in Parkinson's Disease.

International Journal Of Molecular Sciences
Boag, Matthew K MK; Roberts, Angus A; Uversky, Vladimir N VN; Ma, Linlin L; Richardson, Des R DR; Pountney, Dean L DL
Publication Date: 2022-02-21

Variant appearance in text: PARK1: A18T
PubMed Link: 35216492
Variant Present in the following documents:
  • Main text
  • ijms-23-02378.pdf
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Cognitive Impairment in Genetic Parkinson's Disease.

Parkinson'S Disease
Planas-Ballvé, A A; Vilas, D D
Publication Date: 2021

Variant appearance in text: SNCA: A18T
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
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Neuropathology and molecular diagnosis of Synucleinopathies.

Molecular Neurodegeneration
Koga, Shunsuke S; Sekiya, Hiroaki H; Kondru, Naveen N; Ross, Owen A OA; Dickson, Dennis W DW
Publication Date: 2021-12-18

Variant appearance in text: SNCA: A18T
PubMed Link: 34922583
Variant Present in the following documents:
  • Main text
  • 13024_2021_Article_501.pdf
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Neuropathology and molecular diagnosis of Synucleinopathies.

Molecular Neurodegeneration
Koga, Shunsuke S; Sekiya, Hiroaki H; Kondru, Naveen N; Ross, Owen A OA; Dickson, Dennis W DW
Publication Date: 2021-12-18

Variant appearance in text: SNCA: A18T
PubMed Link: 34922583
Variant Present in the following documents:
  • Main text
  • 13024_2021_Article_501.pdf
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Pharmacological Modulation of Nrf2/HO-1 Signaling Pathway as a Therapeutic Target of Parkinson's Disease.

Frontiers In Pharmacology
Wang, Yumin Y; Gao, Luyan L; Chen, Jichao J; Li, Qiang Q; Huo, Liang L; Wang, Yanchao Y; Wang, Hongquan H; Du, Jichen J
Publication Date: 2021

Variant appearance in text: SNCA: A18T
PubMed Link: 34887759
Variant Present in the following documents:
  • Main text
  • fphar-12-757161.pdf
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Alpha-Synuclein Aggregation in Parkinson's Disease.

Frontiers In Medicine
Srinivasan, E E; Chandrasekhar, G G; Chandrasekar, P P; Anbarasu, K K; Vickram, A S AS; Karunakaran, Rohini R; Rajasekaran, R R; Srikumar, P S PS
Publication Date: 2021

Variant appearance in text: SNCA: A18T
PubMed Link: 34733860
Variant Present in the following documents:
  • Main text
  • fmed-08-736978.pdf
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Alpha-Synuclein and Lipids: The Elephant in the Room?

Cells
Sarchione, Alessia A; Marchand, Antoine A; Taymans, Jean-Marc JM; Chartier-Harlin, Marie-Christine MC
Publication Date: 2021-09-17

Variant appearance in text: SNCA: A18T
PubMed Link: 34572099
Variant Present in the following documents:
  • Main text
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All Roads Lead to Rome: Different Molecular Players Converge to Common Toxic Pathways in Neurodegeneration.

Cells
Argueti-Ostrovsky, Shirel S; Alfahel, Leenor L; Kahn, Joy J; Israelson, Adrian A
Publication Date: 2021-09-16

Variant appearance in text: SNCA: A18T
PubMed Link: 34572087
Variant Present in the following documents:
  • Main text
  • cells-10-02438.pdf
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Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease.

Frontiers In Aging Neuroscience
Guo, Yi Y; Sun, Yan Y; Song, Zhi Z; Zheng, Wen W; Xiong, Wei W; Yang, Yan Y; Yuan, Lamei L; Deng, Hao H
Publication Date: 2021

Variant appearance in text: SNCA: A18T
PubMed Link: 34456707
Variant Present in the following documents:
  • Main text
  • fnagi-13-648151.pdf
  • Data_Sheet_1.pdf
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A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Parkinsonism & Related Disorders
Fevga, Christina C; Park, Yangshin Y; Lohmann, Ebba E; Kievit, Anneke J AJ; Breedveld, Guido J GJ; Ferraro, Federico F; de Boer, Leon L; van Minkelen, Rick R; Hanagasi, Hasmet H; Boon, Agnita A; Wang, Wei W; Petsko, Gregory A GA; Hoang, Quyen Q QQ; Emre, Murat M; Bonifati, Vincenzo V
Publication Date: 2021-08

Variant appearance in text: SNCA: Ala18Thr
PubMed Link: 34229155
Variant Present in the following documents:
  • Main text
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α-Synuclein Strains: Does Amyloid Conformation Explain the Heterogeneity of Synucleinopathies?

Biomolecules
Hoppe, Simon Oliver SO; Uzunoğlu, Gamze G; Nussbaum-Krammer, Carmen C
Publication Date: 2021-06-23

Variant appearance in text: SNCA: A18T
PubMed Link: 34201558
Variant Present in the following documents:
  • Main text
  • biomolecules-11-00931.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: A18T
PubMed Link: 34124057
Variant Present in the following documents:
  • Main text
  • 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: A18T
PubMed Link: 34066733
Variant Present in the following documents:
  • ijms-22-04994.pdf
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Targeted attenuation of elevated histone marks at SNCA alleviates α-synuclein in Parkinson's disease.

Embo Molecular Medicine
Guhathakurta, Subhrangshu S; Kim, Jinil J; Adams, Levi L; Basu, Sambuddha S; Song, Min Kyung MK; Adler, Evan E; Je, Goun G; Fiadeiro, Mariana Bernardo MB; Kim, Yoon-Seong YS
Publication Date: 2021-02-05

Variant appearance in text: SNCA: A18T
PubMed Link: 33428332
Variant Present in the following documents:
  • Main text
  • EMMM-13-e12188.pdf
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Membrane Interactions of α-Synuclein Probed by Neutrons and Photons.

Accounts Of Chemical Research
Kaur, Upneet U; Lee, Jennifer C JC
Publication Date: 2021-01-19

Variant appearance in text: SNCA: A18T
PubMed Link: 33415971
Variant Present in the following documents:
  • Main text
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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: A18T
PubMed Link: 33122994
Variant Present in the following documents:
  • Main text
  • fnins-14-578993.pdf
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Pathogenic Mutations Differentially Regulate Cell-to-Cell Transmission of α-Synuclein.

Frontiers In Cellular Neuroscience
Guan, Yuan Y; Zhao, Xiaofang X; Liu, Fengwei F; Yan, Shuxin S; Wang, Yalong Y; Du, Cuilian C; Cui, Xiuyu X; Li, Rena R; Zhang, Claire Xi CX
Publication Date: 2020

Variant appearance in text: SNCA: A18T
PubMed Link: 32595456
Variant Present in the following documents:
  • Main text
  • fncel-14-00159.pdf
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Autophagy in Parkinson's Disease.

Journal Of Molecular Biology
Hou, Xu X; Watzlawik, Jens O JO; Fiesel, Fabienne C FC; Springer, Wolfdieter W
Publication Date: 2020-04-03

Variant appearance in text: SNCA: A18T
PubMed Link: 32061929
Variant Present in the following documents:
  • Main text
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Terminal Alkynes as Raman Probes of α-Synuclein in Solution and in Cells.

Chembiochem : A European Journal Of Chemical Biology
Flynn, Jessica D JD; Gimmen, Megan Y MY; Dean, Dexter N DN; Lacy, Shannon M SM; Lee, Jennifer C JC
Publication Date: 2020-06-02

Variant appearance in text: SNCA: A18T
PubMed Link: 31960993
Variant Present in the following documents:
  • Main text
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Common genetic variants associated with Parkinson's disease display widespread signature of epigenetic plasticity.

Scientific Reports
Sharma, Amit A; Osato, Naoki N; Liu, Hongde H; Asthana, Shailendra S; Dakal, Tikam Chand TC; Ambrosini, Giovanna G; Bucher, Philipp P; Schmitt, Ina I; Wüllner, Ullrich U
Publication Date: 2019-12-05

Variant appearance in text: SNCA: A18T
PubMed Link: 31804560
Variant Present in the following documents:
  • 41598_2019_Article_54865.pdf
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The Roles of Post-translational Modifications on α-Synuclein in the Pathogenesis of Parkinson's Diseases.

Frontiers In Neuroscience
Zhang, Jiaming J; Li, Xiaoping X; Li, Jia-Da JD
Publication Date: 2019

Variant appearance in text: NACP: A18T
PubMed Link: 31057362
Variant Present in the following documents:
  • fnins-13-00381.pdf
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New Perspectives on Roles of Alpha-Synuclein in Parkinson's Disease.

Frontiers In Aging Neuroscience
Zhang, Guoxin G; Xia, Yun Y; Wan, Fang F; Ma, Kai K; Guo, Xingfang X; Kou, Liang L; Yin, Sijia S; Han, Chao C; Liu, Ling L; Huang, Jinsha J; Xiong, Nian N; Wang, Tao T
Publication Date: 2018

Variant appearance in text: SNCA: A18T
PubMed Link: 30524265
Variant Present in the following documents:
  • Main text
  • fnagi-10-00370.pdf
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Interplay between α-synuclein amyloid formation and membrane structure.

Biochimica Et Biophysica Acta. Proteins And Proteomics
O'Leary, Emma I EI; Lee, Jennifer C JC
Publication Date: 2019-05

Variant appearance in text: SNCA: A18T
PubMed Link: 30287222
Variant Present in the following documents:
  • Main text
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Current understanding of the molecular mechanisms in Parkinson's disease: Targets for potential treatments.

Translational Neurodegeneration
Maiti, Panchanan P; Manna, Jayeeta J; Dunbar, Gary L GL
Publication Date: 2017

Variant appearance in text: SNCA: A18T
PubMed Link: 29090092
Variant Present in the following documents:
  • Main text
  • 40035_2017_Article_99.pdf
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Genetic Variants in SNCA and the Risk of Sporadic Parkinson's Disease and Clinical Outcomes: A Review.

Parkinson'S Disease
Campêlo, Clarissa Loureiro das Chagas CLDC; Silva, Regina Helena RH
Publication Date: 2017

Variant appearance in text: SNCA: A18T
PubMed Link: 28781905
Variant Present in the following documents:
  • Main text
  • PD2017-4318416.pdf
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The contribution of alpha synuclein to neuronal survival and function - Implications for Parkinson's disease.

Journal Of Neurochemistry
Benskey, Matthew J MJ; Perez, Ruth G RG; Manfredsson, Fredric P FP
Publication Date: 2016-05

Variant appearance in text: SNCA: A18T
PubMed Link: 26852372
Variant Present in the following documents:
  • Main text
  • JNC-137-331.pdf
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Autosomal dominant Parkinson's disease caused by SNCA duplications.

Parkinsonism & Related Disorders
Konno, Takuya T; Ross, Owen A OA; Puschmann, Andreas A; Dickson, Dennis W DW; Wszolek, Zbigniew K ZK
Publication Date: 2016-01

Variant appearance in text: SNCA: Ala18Thr
PubMed Link: 26350119
Variant Present in the following documents:
  • Main text
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Multiple system atrophy: genetic or epigenetic?

Experimental Neurobiology
Sturm, Edith E; Stefanova, Nadia N
Publication Date: 2014-12

Variant appearance in text: SNCA: A18T
PubMed Link: 25548529
Variant Present in the following documents:
  • Main text
  • en-23-277.pdf
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Biophysical characterization of α-synuclein and its controversial structure.

Intrinsically Disordered Proteins
Alderson, T Reid TR; Markley, John L JL
Publication Date: 2013-01-01

Variant appearance in text: SNCA: A18T
PubMed Link: 24634806
Variant Present in the following documents:
  • Main text
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Genetic insights into sporadic Parkinson's disease pathogenesis.

Current Genomics
Chai, Chou C; Lim, Kah-Leong KL
Publication Date: 2013-12

Variant appearance in text: SNCA: A18T
PubMed Link: 24532982
Variant Present in the following documents:
  • Main text
  • CG-14-486.pdf
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Update on novel familial forms of Parkinson's disease and multiple system atrophy.

Parkinsonism & Related Disorders
Fujioka, Shinsuke S; Ogaki, Kotaro K; Tacik, Pawel M PM; Uitti, Ryan J RJ; Ross, Owen A OA; Wszolek, Zbigniew K ZK
Publication Date: 2014-01

Variant appearance in text: SNCA: A18T
PubMed Link: 24262183
Variant Present in the following documents:
  • Main text
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Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

Parkinsonism & Related Disorders
Hoffman-Zacharska, Dorota D; Koziorowski, Dariusz D; Ross, Owen A OA; Milewski, Micha M; Poznanski, Jaros Aw JA; Jurek, Marta M; Wszolek, Zbigniew K ZK; Soto-Ortolaza, Alexandra A; Awek, Jaros Aw S JAS; Janik, Piotr P; Jamrozik, Zygmunt Z; Potulska-Chromik, Anna A; Jasinska-Myga, Barbara B; Opala, Grzegorz G; Krygowska-Wajs, Anna A; Czyzewski, Krzysztof K; Dickson, Dennis W DW; Bal, Jerzy J; Friedman, Andrzej A
Publication Date: 2013-11

Variant appearance in text: SNCA: 52G>A; A18T
PubMed Link: 23916651
Variant Present in the following documents:
  • Main text
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