SNCA c.158C>A ;(p.A53E)

Variant ID: 4-90749299-G-T

NM_000345.3(SNCA):c.158C>A;(p.A53E)

This variant was identified in 209 publications

View GRCh38 version.




Publications:


SARS-COV-2 Spike Protein Fragment eases Amyloidogenesis of α-Synuclein.

Biorxiv : The Preprint Server For Biology
Chesney, Andrew D AD; Maiti, Buddhadev B; Hansmann, Ulrich H E UHE
Publication Date: 2023-05-08

Variant appearance in text: SNCA: A53E
PubMed Link: 37214999
Variant Present in the following documents:
  • nihpp-2023.05.06.539715v1.pdf
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Revisiting Alpha-Synuclein Pathways to Inflammation.

International Journal Of Molecular Sciences
Lyra, Patrícia P; Machado, Vanessa V; Rota, Silvia S; Chaudhuri, Kallol Ray KR; Botelho, João J; Mendes, José João JJ
Publication Date: 2023-04-12

Variant appearance in text: SNCA: A53E
PubMed Link: 37108299
Variant Present in the following documents:
  • ijms-24-07137.pdf
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Cntnap4 partial deficiency exacerbates α-synuclein pathology through astrocyte-microglia C3-C3aR pathway.

Cell Death & Disease
Zhang, Wenlong W; Ding, Liuyan L; Chen, Huaqing H; Zhang, Mengran M; Ma, Runfang R; Zheng, Shaohui S; Gong, Junwei J; Zhang, Zhiling Z; Xu, Huaxi H; Xu, Pingyi P; Zhang, Yunlong Y
Publication Date: 2023-04-22

Variant appearance in text: SNCA: A53E
PubMed Link: 37087484
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5807.pdf
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Synuclein α accumulation mediates podocyte injury in Fabry nephropathy.

The Journal Of Clinical Investigation
Braun, Fabian F; Abed, Ahmed A; Sellung, Dominik D; Rogg, Manuel M; Woidy, Mathias M; Eikrem, Oysten O; Wanner, Nicola N; Gambardella, Jessica J; Laufer, Sandra D SD; Haas, Fabian F; Wong, Milagros N MN; Dumoulin, Bernhard B; Rischke, Paula P; Mühlig, Anne K AK; Sachs, Wiebke W; von Cossel, Katharina K; Schulz, Kristina K; Muschol, Nicole N; Gersting, Sören W SW; Muntau, Ania C AC; Kretz, Oliver O; Hahn, Oliver O; Rinschen, Markus M MM; Mauer, Michael M; Bork, Tillmann T; Grahammer, Florian F; Liang, Wei W; Eierhoff, Thorsten T; Römer, Winfried W; Hansen, Arne A; Meyer-Schwesinger, Catherine C; Iaccarino, Guido G; Tøndel, Camilla C; Marti, Hans-Peter HP; Najafian, Behzad B; Puelles, Victor G VG; Schell, Christoph C; Huber, Tobias B TB
Publication Date: 2023-04-04

Variant appearance in text: SNCA: A53E
PubMed Link: 37014703
Variant Present in the following documents:
  • jci-133-157782.pdf
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Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

International Journal Of Molecular Sciences
Bougea, Anastasia A
Publication Date: 2023-03-09

Variant appearance in text: SNCA: A53E
PubMed Link: 36982356
Variant Present in the following documents:
  • Main text
  • ijms-24-05281.pdf
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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: A53E
PubMed Link: 36976861
Variant Present in the following documents:
  • Main text
  • js2c00339.pdf
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Protein kinase R dependent phosphorylation of α-synuclein regulates its membrane binding and aggregation.

Pnas Nexus
Reimer, Lasse L; Gram, Hjalte H; Jensen, Nanna Møller NM; Betzer, Cristine C; Yang, Li L; Jin, Lorrain L; Shi, Min M; Boudeffa, Driss D; Fusco, Giuliana G; De Simone, Alfonso A; Kirik, Deniz D; Lashuel, Hilal A HA; Zhang, Jing J; Jensen, Poul Henning PH
Publication Date: 2022-11

Variant appearance in text: SNCA: A53E
PubMed Link: 36712380
Variant Present in the following documents:
  • pgac259.pdf
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The role of the endolysosomal pathway in α-synuclein pathogenesis in Parkinson's disease.

Frontiers In Cellular Neuroscience
Smith, Jessica K JK; Mellick, George D GD; Sykes, Alex M AM
Publication Date: 2022

Variant appearance in text: SNCA: A53E
PubMed Link: 36704248
Variant Present in the following documents:
  • fncel-16-1081426.pdf
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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: A53E
PubMed Link: 36555748
Variant Present in the following documents:
  • ijms-23-16096.pdf
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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: A53E
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
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Cellular Models of Alpha-Synuclein Aggregation: What Have We Learned and Implications for Future Study.

Biomedicines
Albert, Katrina K; Kälvälä, Sara S; Hakosalo, Vili V; Syvänen, Valtteri V; Krupa, Patryk P; Niskanen, Jonna J; Peltonen, Sanni S; Sonninen, Tuuli-Maria TM; Lehtonen, Šárka Š
Publication Date: 2022-10-20

Variant appearance in text: SNCA: A53E
PubMed Link: 36289910
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02649.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: A53E
PubMed Link: 36208776
Variant Present in the following documents:
  • Main text
  • 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: A53E
PubMed Link: 36111783
Variant Present in the following documents:
  • Main text
  • BST-50-1303.pdf
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Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?

International Journal Of Molecular Sciences
Roberts, Bradley B; Theunissen, Frances F; Mastaglia, Francis L FL; Akkari, P Anthony PA; Flynn, Loren L LL
Publication Date: 2022-08-19

Variant appearance in text: SNCA: A53E
PubMed Link: 36012622
Variant Present in the following documents:
  • ijms-23-09364.pdf
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α-Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid-Binding Property.

Movement Disorders : Official Journal Of The Movement Disorder Society
Daida, Kensuke K; Shimonaka, Shotaro S; Shiba-Fukushima, Kahori K; Ogata, Jun J; Yoshino, Hiroyo H; Okuzumi, Ayami A; Hatano, Taku T; Motoi, Yumiko Y; Hirunagi, Tomoki T; Katsuno, Masahisa M; Shindou, Hideo H; Funayama, Manabu M; Nishioka, Kenya K; Hattori, Nobutaka N; Imai, Yuzuru Y
Publication Date: 2022-10

Variant appearance in text: SNCA: A53E
PubMed Link: 35894540
Variant Present in the following documents:
  • Main text
  • MDS-37-2075.pdf
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Mitochondrial Dysfunction in Parkinson's Disease: From Mechanistic Insights to Therapy.

Frontiers In Aging Neuroscience
Gao, Xiao-Yan XY; Yang, Tuo T; Gu, Ying Y; Sun, Xiao-Hong XH
Publication Date: 2022

Variant appearance in text: SNCA: A53E
PubMed Link: 35795234
Variant Present in the following documents:
  • Main text
  • fnagi-14-885500.pdf
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A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Journal Of Parkinson'S Disease
Salles, Philippe A PA; Liao, James J; Shuaib, Umar U; Mata, Ignacio F IF; Fernandez, Hubert H HH
Publication Date: 2022

Variant appearance in text: SNCA: A53E
PubMed Link: 35662127
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd212986.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: A53E
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: A53E
PubMed Link: 35486726
Variant Present in the following documents:
  • Main text
  • sciadv.abn0044.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: A53E
PubMed Link: 35474118
Variant Present in the following documents:
  • 41598_2022_Article_10789.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: A53E
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: A53E
PubMed Link: 35335141
Variant Present in the following documents:
  • Main text
  • molecules-27-01776.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: A53E
PubMed Link: 35216492
Variant Present in the following documents:
  • Main text
  • ijms-23-02378.pdf
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Constitutive nuclear accumulation of endogenous alpha-synuclein in mice causes motor impairment and cortical dysfunction, independent of protein aggregation.

Human Molecular Genetics
Geertsma, Haley M HM; Suk, Terry R TR; Ricke, Konrad M KM; Horsthuis, Kyra K; Parmasad, Jean-Louis A JA; Fisk, Zoe A ZA; Callaghan, Steve M SM; Rousseaux, Maxime W C MWC
Publication Date: 2022-10-28

Variant appearance in text: SNCA: A53E
PubMed Link: 35179202
Variant Present in the following documents:
  • ddac035.pdf
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Roles of α-Synuclein and Disease-Associated Factors in Drosophila Models of Parkinson's Disease.

International Journal Of Molecular Sciences
Suzuki, Mari M; Sango, Kazunori K; Nagai, Yoshitaka Y
Publication Date: 2022-01-28

Variant appearance in text: SNCA: A53E
PubMed Link: 35163450
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subthalamic deep brain stimulation in Parkinson's disease with SNCA mutations: Based on the follow-up to 10 years.

Brain And Behavior
Youn, Jinyoung J; Oyama, Genko G; Hattori, Nobutaka N; Shimo, Yasushi Y; Kuusimäki, Tomi T; Kaasinen, Valtteri V; Antonini, Angelo A; Kim, Dongyeop D; Lee, Jung-Il JI; Cho, Kyung Rae KR; Cho, Jin Whan JW
Publication Date: 2022-02

Variant appearance in text: SNCA: A53E
PubMed Link: 35040589
Variant Present in the following documents:
  • Main text
  • BRB3-12-e2503.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: A53E
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A53E
PubMed Link: 34922583
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A53E
PubMed Link: 34922583
Variant Present in the following documents:
  • Main text
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Alpha-synuclein as a biomarker in Parkinson's disease: focus on neural derived extracelluar vesicles.

Neural Regeneration Research
Agliardi, Cristina C; Guerini, Franca R FR; Meloni, Mario M; Clerici, Mario M
Publication Date: 2022-07

Variant appearance in text: SNCA: A53E
PubMed Link: 34916434
Variant Present in the following documents:
  • Main text
  • NRR-17-1503.pdf
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Alpha-synuclein as a biomarker in Parkinson's disease: focus on neural derived extracelluar vesicles.

Neural Regeneration Research
Agliardi, Cristina C; Guerini, Franca R FR; Meloni, Mario M; Clerici, Mario M
Publication Date: 2022-07

Variant appearance in text: SNCA: A53E
PubMed Link: 34916434
Variant Present in the following documents:
  • Main text
  • NRR-17-1503.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: A53E
PubMed Link: 34887759
Variant Present in the following documents:
  • Main text
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: A53E
PubMed Link: 34833115
Variant Present in the following documents:
  • Main text
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Examining the Toxicity of α-Synuclein in Neurodegenerative Disorders.

Life (Basel, Switzerland)
Shan, Frank Y FY; Fung, Kar-Ming KM; Zieneldien, Tarek T; Kim, Janice J; Cao, Chuanhai C; Huang, Jason H JH
Publication Date: 2021-10-22

Variant appearance in text: SNCA: A53E
PubMed Link: 34833002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between Sleep, Alzheimer's, and Parkinson's Disease.

Biology
Matsumoto, Sumire S; Tsunematsu, Tomomi T
Publication Date: 2021-11-03

Variant appearance in text: SNCA: A53E
PubMed Link: 34827122
Variant Present in the following documents:
  • Main text
View BVdb publication page



α-Synuclein-mediated neurodegeneration in Dementia with Lewy bodies: the pathobiology of a paradox.

Cell & Bioscience
Simon, Christopher C; Soga, Tomoko T; Okano, Hirotaka James HJ; Parhar, Ishwar I
Publication Date: 2021-11-19

Variant appearance in text: SNCA: A53E
PubMed Link: 34798911
Variant Present in the following documents:
  • Main text
  • 13578_2021_Article_709.pdf
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Effects of the Toxic Metals Arsenite and Cadmium on α-Synuclein Aggregation In Vitro and in Cells.

International Journal Of Molecular Sciences
Lorentzon, Emma E; Horvath, Istvan I; Kumar, Ranjeet R; Rodrigues, Joana Isabel JI; Tamás, Markus J MJ; Wittung-Stafshede, Pernilla P
Publication Date: 2021-10-24

Variant appearance in text: SNCA: A53E
PubMed Link: 34768886
Variant Present in the following documents:
  • Main text
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Gene-corrected p.A30P SNCA patient-derived isogenic neurons rescue neuronal branching and function.

Scientific Reports
Barbuti, Peter A PA; Ohnmacht, Jochen J; Santos, Bruno F R BFR; Antony, Paul M PM; Massart, François F; Cruciani, Gérald G; Dording, Claire M CM; Pavelka, Lukas L; Casadei, Nicolas N; Kwon, Yong-Jun YJ; Krüger, Rejko R
Publication Date: 2021-11-09

Variant appearance in text: SNCA: A53E
PubMed Link: 34754035
Variant Present in the following documents:
  • Main text
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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: A53E
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: A53E
PubMed Link: 34680054
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01419.pdf
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Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.

Frontiers In Neurology
Guadagnolo, Daniele D; Piane, Maria M; Torrisi, Maria Rosaria MR; Pizzuti, Antonio A; Petrucci, Simona S
Publication Date: 2021

Variant appearance in text: SNCA: A53E
PubMed Link: 34630269
Variant Present in the following documents:
  • Main text
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A historical review of multiple system atrophy with a critical appraisal of cellular and animal models.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Marmion, David J DJ; Peelaerts, Wouter W; Kordower, Jeffrey H JH
Publication Date: 2021-10

Variant appearance in text: SNCA: A53E
PubMed Link: 34613484
Variant Present in the following documents:
  • Main text
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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: A53E
PubMed Link: 34572099
Variant Present in the following documents:
  • Main text
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A Practical Approach to Early-Onset Parkinsonism.

Journal Of Parkinson'S Disease
Riboldi, Giulietta M GM; Frattini, Emanuele E; Monfrini, Edoardo E; Frucht, Steven J SJ; Di Fonzo, Alessio A
Publication Date: 2022

Variant appearance in text: SNCA: Ala53Glu
PubMed Link: 34569973
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd212815.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: A53E
PubMed Link: 34456707
Variant Present in the following documents:
  • Main text
  • fnagi-13-648151.pdf
  • Data_Sheet_1.pdf
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