SNCA c.158C>T ;(p.A53V)

Variant ID: 4-90749299-G-A

NM_000345.3(SNCA):c.158C>T;(p.A53V)

This variant was identified in 39 publications

View GRCh38 version.




Publications:


In Silico Study of the Interactions of Anle138b Isomer, an Inhibitor of Amyloid Aggregation, with Partner Proteins.

International Journal Of Molecular Sciences
Kondratyev, Maxim S MS; Rudnev, Vladimir R VR; Nikolsky, Kirill S KS; Petrovsky, Denis V DV; Kulikova, Liudmila I LI; Malsagova, Kristina A KA; Stepanov, Alexander A AA; Kopylov, Arthur T AT; Kaysheva, Anna L AL
Publication Date: 2022-12-17

Variant appearance in text: SNCA: Ala53Val
PubMed Link: 36555748
Variant Present in the following documents:
  • ijms-23-16096.pdf
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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: SNCA: 158C>T; A53V
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
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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: A53V
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
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Anionic lipid vesicles have differential effects on the aggregation of early onset-associated α-synuclein missense mutants.

The Journal Of Biological Chemistry
Watt, Kathryn J C KJC; Meade, Richard M RM; Williams, Robert J RJ; Mason, Jody M JM
Publication Date: 2022-10-05

Variant appearance in text: SNCA: A53V
PubMed Link: 36208776
Variant Present in the following documents:
  • Main text
  • main.pdf
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Gene-Based Therapeutics for Parkinson's Disease.

Biomedicines
Shalaby, Karim E KE; El-Agnaf, Omar M A OMA
Publication Date: 2022-07-26

Variant appearance in text: SNCA: A53V
PubMed Link: 35892690
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01790.pdf
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Alpha-Synuclein Aggregation Pathway in Parkinson's Disease: Current Status and Novel Therapeutic Approaches.

Cells
Vidović, Marija M; Rikalovic, Milena G MG
Publication Date: 2022-05-24

Variant appearance in text: SNCA: A53V
PubMed Link: 35681426
Variant Present in the following documents:
  • Main text
  • cells-11-01732.pdf
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Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.

Frontiers In Aging Neuroscience
Hua, Ping P; Zhao, Yuwen Y; Zeng, Qian Q; Li, Lanting L; Ren, Jingru J; Guo, Jifeng J; Tang, Beisha B; Liu, Weiguo W
Publication Date: 2022

Variant appearance in text: SNCA: A53V
PubMed Link: 35645773
Variant Present in the following documents:
  • fnagi-14-849462.pdf
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Library-Derived Peptide Aggregation Modulators of Parkinson's Disease Early-Onset α-Synuclein Variants.

Acs Chemical Neuroscience
Watt, Kathryn J C KJC; Meade, Richard M RM; Williams, Robert J RJ; Mason, Jody M JM
Publication Date: 2022-06-15

Variant appearance in text: SNCA: A53V
PubMed Link: 35613323
Variant Present in the following documents:
  • Main text
  • cn2c00190.pdf
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A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity.

Science Advances
Kumar, Senthil T ST; Mahul-Mellier, Anne-Laure AL; Hegde, Ramanath Narayana RN; Rivière, Gwladys G; Moons, Rani R; Ibáñez de Opakua, Alain A; Magalhães, Pedro P; Rostami, Iman I; Donzelli, Sonia S; Sobott, Frank F; Zweckstetter, Markus M; Lashuel, Hilal A HA
Publication Date: 2022-04-29

Variant appearance in text: SNCA: A53V
PubMed Link: 35486726
Variant Present in the following documents:
  • Main text
  • sciadv.abn0044.pdf
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Proteomics Challenges for the Assessment of Synuclein Proteoforms as Clinical Biomarkers in Parkinson's Disease.

Frontiers In Aging Neuroscience
Pons, Marie-Laure ML; Loftus, Neil N; Vialaret, Jerome J; Moreau, Stephane S; Lehmann, Sylvain S; Hirtz, Christophe C
Publication Date: 2022

Variant appearance in text: SNCA: A53V
PubMed Link: 35431896
Variant Present in the following documents:
  • Main text
  • fnagi-14-818606.pdf
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Amyloid Cross-Seeding: Mechanism, Implication, and Inhibition.

Molecules (Basel, Switzerland)
Subedi, Sushma S; Sasidharan, Santanu S; Nag, Niharika N; Saudagar, Prakash P; Tripathi, Timir T
Publication Date: 2022-03-08

Variant appearance in text: SNCA: A53V
PubMed Link: 35335141
Variant Present in the following documents:
  • Main text
  • molecules-27-01776.pdf
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Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Genes
Jia, Fangzhi F; Fellner, Avi A; Kumar, Kishore Raj KR
Publication Date: 2022-03-07

Variant appearance in text: SNCA: A53V
PubMed Link: 35328025
Variant Present in the following documents:
  • Main text
  • genes-13-00471.pdf
View BVdb publication page



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: A53V
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: NACP: A53V
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: NACP: A53V
PubMed Link: 34922583
Variant Present in the following documents:
  • Main text
  • 13024_2021_Article_501.pdf
View BVdb publication page



Alpha-Synuclein and Cognitive Decline in Parkinson Disease.

Life (Basel, Switzerland)
Fan, Tian-Sin TS; Liu, Sam Chi-Hao SC; Wu, Ruey-Meei RM
Publication Date: 2021-11-16

Variant appearance in text: SNCA: A53V
PubMed Link: 34833115
Variant Present in the following documents:
  • Main text
  • life-11-01239.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: A53V
PubMed Link: 34733860
Variant Present in the following documents:
  • Main text
  • fmed-08-736978.pdf
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Structural and Functional Insights into α-Synuclein Fibril Polymorphism.

Biomolecules
Mehra, Surabhi S; Gadhe, Laxmikant L; Bera, Riya R; Sawner, Ajay Singh AS; Maji, Samir K SK
Publication Date: 2021-09-28

Variant appearance in text: SNCA: A53V
PubMed Link: 34680054
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01419.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: A53V
PubMed Link: 34572099
Variant Present in the following documents:
  • Main text
  • cells-10-02452.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: 158C>T; A53V; rs542171324
PubMed Link: 34456707
Variant Present in the following documents:
  • Main text
  • Data_Sheet_1.pdf
  • fnagi-13-648151.pdf
View BVdb publication page



Alpha-synuclein research: defining strategic moves in the battle against Parkinson's disease.

Npj Parkinson'S Disease
Oliveira, Luis M A LMA; Gasser, Thomas T; Edwards, Robert R; Zweckstetter, Markus M; Melki, Ronald R; Stefanis, Leonidas L; Lashuel, Hilal A HA; Sulzer, David D; Vekrellis, Kostas K; Halliday, Glenda M GM; Tomlinson, Julianna J JJ; Schlossmacher, Michael M; Jensen, Poul Henning PH; Schulze-Hentrich, Julia J; Riess, Olaf O; Hirst, Warren D WD; El-Agnaf, Omar O; Mollenhauer, Brit B; Lansbury, Peter P; Outeiro, Tiago F TF
Publication Date: 2021-07-26

Variant appearance in text: SNCA: A53V
PubMed Link: 34312398
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_203.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: Ala53Val
PubMed Link: 34229155
Variant Present in the following documents:
  • Main text
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Recent Insights into the Interplay of Alpha-Synuclein and Sphingolipid Signaling in Parkinson's Disease.

International Journal Of Molecular Sciences
Motyl, Joanna A JA; Strosznajder, Joanna B JB; Wencel, Agnieszka A; Strosznajder, Robert P RP
Publication Date: 2021-06-11

Variant appearance in text: SNCA: A53V
PubMed Link: 34207975
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: A53V
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: A53V
PubMed Link: 34124057
Variant Present in the following documents:
  • Main text
View BVdb publication page



Growth differentiation factor 5: a neurotrophic factor with neuroprotective potential in Parkinson's disease.

Neural Regeneration Research
Goulding, Susan R SR; Anantha, Jayanth J; Collins, Louise M LM; Sullivan, Aideen M AM; O'Keeffe, Gerard W GW
Publication Date: 2022-01

Variant appearance in text: SNCA: A53V
PubMed Link: 34100424
Variant Present in the following documents:
  • NRR-17-38.pdf
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Accumulation of alpha-synuclein within the liver, potential role in the clearance of brain pathology associated with Parkinson's disease.

Acta Neuropathologica Communications
Reyes, Juan F JF; Ekmark-Léwen, Sara S; Perdiki, Marina M; Klingstedt, Therése T; Hoffmann, Alana A; Wiechec, Emilia E; Nilsson, Per P; Nilsson, K Peter R KPR; Alafuzoff, Irina I; Ingelsson, Martin M; Hallbeck, Martin M
Publication Date: 2021-03-20

Variant appearance in text: SNCA: A53V
PubMed Link: 33743820
Variant Present in the following documents:
  • 40478_2021_Article_1136.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: A53V
PubMed Link: 33122994
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unraveling Pathophysiological Mechanisms of Parkinson's Disease: Contribution of CSF Biomarkers.

Biomarker Insights
Farotti, Lucia L; Paolini Paoletti, Federico F; Simoni, Simone S; Parnetti, Lucilla L
Publication Date: 2020

Variant appearance in text: SNCA: A53V
PubMed Link: 33110345
Variant Present in the following documents:
  • Main text
  • 10.1177_1177271920964077.pdf
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The Pathology of Parkinson's Disease and Potential Benefit of Dietary Polyphenols.

Molecules (Basel, Switzerland)
Aryal, Sunisha S; Skinner, Taylor T; Bridges, Bronwyn B; Weber, John T JT
Publication Date: 2020-09-24

Variant appearance in text: SNCA: A53V
PubMed Link: 32987656
Variant Present in the following documents:
  • Main text
  • molecules-25-04382.pdf
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α-Synuclein filaments from transgenic mouse and human synucleinopathy-containing brains are major seed-competent species.

The Journal Of Biological Chemistry
Morgan, Sophie A SA; Lavenir, Isabelle I; Fan, Juan J; Masuda-Suzukake, Masami M; Passarella, Daniela D; DeTure, Michael A MA; Dickson, Dennis W DW; Ghetti, Bernardino B; Goedert, Michel M
Publication Date: 2020-05-08

Variant appearance in text: SNCA: A53V
PubMed Link: 32209651
Variant Present in the following documents:
  • zbc6652.pdf
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Protein Quality Control Pathways at the Crossroad of Synucleinopathies.

Journal Of Parkinson'S Disease
De Mattos, Eduardo P EP; Wentink, Anne A; Nussbaum-Krammer, Carmen C; Hansen, Christian C; Bergink, Steven S; Melki, Ronald R; Kampinga, Harm H HH
Publication Date: 2020

Variant appearance in text: SNCA: A53V
PubMed Link: 31985474
Variant Present in the following documents:
  • Main text
  • jpd-10-jpd191790.pdf
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Organoid and pluripotent stem cells in Parkinson's disease modeling: an expert view on their value to drug discovery.

Expert Opinion On Drug Discovery
Marotta, Nick N; Kim, Soojin S; Krainc, Dimitri D
Publication Date: 2020-04

Variant appearance in text: SNCA: A53V
PubMed Link: 31899983
Variant Present in the following documents:
  • Main text
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Alpha-synuclein structure and Parkinson's disease - lessons and emerging principles.

Molecular Neurodegeneration
Meade, Richard M RM; Fairlie, David P DP; Mason, Jody M JM
Publication Date: 2019-07-22

Variant appearance in text: SNCA: A53V
PubMed Link: 31331359
Variant Present in the following documents:
  • Main text
  • 13024_2019_Article_329.pdf
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Modeling Parkinson's Disease Using Patient-specific Induced Pluripotent Stem Cells.

Journal Of Parkinson'S Disease
Li, Hong H; Jiang, Houbo H; Zhang, Boyang B; Feng, Jian J
Publication Date: 2018

Variant appearance in text: SNCA: A53V
PubMed Link: 30149462
Variant Present in the following documents:
  • Main text
  • jpd-8-jpd181353.pdf
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Advancing Stem Cell Models of Alpha-Synuclein Gene Regulation in Neurodegenerative Disease.

Frontiers In Neuroscience
Piper, Desiree A DA; Sastre, Danuta D; Schüle, Birgitt B
Publication Date: 2018

Variant appearance in text: SNCA: 158C>T; A53V
PubMed Link: 29686602
Variant Present in the following documents:
  • Main text
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Multiple system atrophy: genetic risks and alpha-synuclein mutations.

F1000Research
Whittaker, Heather T HT; Qui, Yichen Y; Bettencourt, Conceição C; Houlden, Henry H
Publication Date: 2017

Variant appearance in text: SNCA: 158C>T; Ala53Val
PubMed Link: 29225795
Variant Present in the following documents:
  • Main text
View BVdb publication page