SNCA c.169G>A ;(p.E57K)

Variant ID: 4-90743534-C-T

NM_000345.3(SNCA):c.169G>A;(p.E57K)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


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: E57K
PubMed Link: 36289910
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02649.pdf
View BVdb publication page



Association of Glial Activation and α-Synuclein Pathology in Parkinson's Disease.

Neuroscience Bulletin
Wang, Rui R; Ren, Haigang H; Kaznacheyeva, Elena E; Lu, Xiaojun X; Wang, Guanghui G
Publication Date: 2022-10-14

Variant appearance in text: SNCA: E57K
PubMed Link: 36229715
Variant Present in the following documents:
  • Main text
  • 12264_2022_Article_957.pdf
View BVdb publication page



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: E57K
PubMed Link: 36111783
Variant Present in the following documents:
  • Main text
  • BST-50-1303.pdf
View BVdb publication page



Oligomeropathies, inflammation and prion protein binding.

Frontiers In Neuroscience
Forloni, Gianluigi G; La Vitola, Pietro P; Balducci, Claudia C
Publication Date: 2022

Variant appearance in text: NACP: E57K
PubMed Link: 36081661
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single Molecule Fingerprinting Reveals Different Amplification Properties of α-Synuclein Oligomers and Preformed Fibrils in Seeding Assay.

Acs Chemical Neuroscience
Lau, Derrick D; Magnan, Chloé C; Hill, Kathryn K; Cooper, Antony A; Gambin, Yann Y; Sierecki, Emma E
Publication Date: 2022-04-06

Variant appearance in text: SNCA: E57K
PubMed Link: 35286811
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mitochondrial Phenotypes in Parkinson's Diseases-A Focus on Human iPSC-Derived Dopaminergic Neurons.

Cells
Heger, Leonie M LM; Wise, Rachel M RM; Hees, J Tabitha JT; Harbauer, Angelika B AB; Burbulla, Lena F LF
Publication Date: 2021-12-07

Variant appearance in text: SNCA: E57K
PubMed Link: 34943944
Variant Present in the following documents:
  • Main text
  • cells-10-03436.pdf
View BVdb publication page



The Prion-Like Spreading of Alpha-Synuclein in Parkinson's Disease: Update on Models and Hypotheses.

International Journal Of Molecular Sciences
Jan, Asad A; Gonçalves, Nádia Pereira NP; Vaegter, Christian Bjerggaard CB; Jensen, Poul Henning PH; Ferreira, Nelson N
Publication Date: 2021-08-03

Variant appearance in text: SNCA: E57K
PubMed Link: 34361100
Variant Present in the following documents:
  • Main text
  • ijms-22-08338.pdf
View BVdb publication page



α-synuclein pathogenesis in hiPSC models of Parkinson's disease.

Neuronal Signaling
Baena-Montes, Jara M JM; Avazzadeh, Sahar S; Quinlan, Leo R LR
Publication Date: 2021-06

Variant appearance in text: SNCA: E57K
PubMed Link: 34239711
Variant Present in the following documents:
  • Main text
  • ns-05-ns20210021.pdf
View BVdb publication page



Comprehensive Perspectives on Experimental Models for Parkinson's Disease.

Aging And Disease
Ke, Minjing M; Chong, Cheong-Meng CM; Zhu, Qi Q; Zhang, Ke K; Cai, Cui-Zan CZ; Lu, Jia-Hong JH; Qin, Dajiang D; Su, Huanxing H
Publication Date: 2021-02

Variant appearance in text: SNCA: E57K
PubMed Link: 33532138
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current and future applications of induced pluripotent stem cell-based models to study pathological proteins in neurodegenerative disorders.

Molecular Psychiatry
de Rus Jacquet, Aurélie A; Denis, Hélèna L HL; Cicchetti, Francesca F; Alpaugh, Melanie M
Publication Date: 2021-07

Variant appearance in text: SNCA: E57K
PubMed Link: 33495544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intracellular A53T Mutant α-Synuclein Impairs Adult Hippocampal Newborn Neuron Integration.

Frontiers In Cell And Developmental Biology
Regensburger, Martin M; Stemick, Judith J; Masliah, Eliezer E; Kohl, Zacharias Z; Winner, Beate B
Publication Date: 2020

Variant appearance in text: NACP: E57K
PubMed Link: 33262984
Variant Present in the following documents:
  • fcell-08-561963.pdf
View BVdb publication page



The Role of Alpha-Synuclein and Other Parkinson's Genes in Neurodevelopmental and Neurodegenerative Disorders.

International Journal Of Molecular Sciences
Morato Torres, C Alejandra CA; Wassouf, Zinah Z; Zafar, Faria F; Sastre, Danuta D; Outeiro, Tiago Fleming TF; Schüle, Birgitt B
Publication Date: 2020-08-10

Variant appearance in text: SNCA: E57K
PubMed Link: 32785033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Poly (ADP-ribose) polymerase 1 inhibition prevents neurodegeneration and promotes α-synuclein degradation via transcription factor EB-dependent autophagy in mutant α-synucleinA53T model of Parkinson's disease.

Aging Cell
Mao, Kanmin K; Chen, Jialong J; Yu, Honglin H; Li, Huihui H; Ren, Yixian Y; Wu, Xian X; Wen, Yue Y; Zou, Fei F; Li, Wenjun W
Publication Date: 2020-06

Variant appearance in text: SNCA: E57K
PubMed Link: 32475059
Variant Present in the following documents:
  • Main text
  • ACEL-19-e13163.pdf
View BVdb publication page



Modeling Parkinson's Disease With the Alpha-Synuclein Protein.

Frontiers In Pharmacology
Gómez-Benito, Mónica M; Granado, Noelia N; García-Sanz, Patricia P; Michel, Anne A; Dumoulin, Mireille M; Moratalla, Rosario R
Publication Date: 2020

Variant appearance in text: SNCA: E57K
PubMed Link: 32390826
Variant Present in the following documents:
  • Main text
  • fphar-11-00356.pdf
View BVdb publication page



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: E57K
PubMed Link: 31899983
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: E57K
PubMed Link: 31331359
Variant Present in the following documents:
  • Main text
  • 13024_2019_Article_329.pdf
View BVdb publication page



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: E57K
PubMed Link: 30524265
Variant Present in the following documents:
  • Main text
  • fnagi-10-00370.pdf
View BVdb publication page



α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Prots, Iryna I; Grosch, Janina J; Brazdis, Razvan-Marius RM; Simmnacher, Katrin K; Veber, Vanesa V; Havlicek, Steven S; Hannappel, Christian C; Krach, Florian F; Krumbiegel, Mandy M; Schütz, Oliver O; Reis, André A; Wrasidlo, Wolfgang W; Galasko, Douglas R DR; Groemer, Teja W TW; Masliah, Eliezer E; Schlötzer-Schrehardt, Ursula U; Xiang, Wei W; Winkler, Jürgen J; Winner, Beate B
Publication Date: 2018-07-24

Variant appearance in text: SNCA: E57K
PubMed Link: 29991596
Variant Present in the following documents:
  • pnas.201713129.pdf
View BVdb publication page



Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells.

Human Molecular Genetics
Dettmer, Ulf U; Ramalingam, Nagendran N; von Saucken, Victoria E VE; Kim, Tae-Eun TE; Newman, Andrew J AJ; Terry-Kantor, Elizabeth E; Nuber, Silke S; Ericsson, Maria M; Fanning, Saranna S; Bartels, Tim T; Lindquist, Susan S; Levy, Oren A OA; Selkoe, Dennis D
Publication Date: 2017-09-15

Variant appearance in text: SNCA: E57K
PubMed Link: 28911198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alpha-synuclein oligomers: a new hope.

Acta Neuropathologica
Bengoa-Vergniory, Nora N; Roberts, Rosalind F RF; Wade-Martins, Richard R; Alegre-Abarrategui, Javier J
Publication Date: 2017-12

Variant appearance in text: SNCA: E57K
PubMed Link: 28803412
Variant Present in the following documents:
  • Main text
  • 401_2017_Article_1755.pdf
View BVdb publication page



A de novo compound targeting α-synuclein improves deficits in models of Parkinson's disease.

Brain : A Journal Of Neurology
Wrasidlo, Wolfgang W; Tsigelny, Igor F IF; Price, Diana L DL; Dutta, Garima G; Rockenstein, Edward E; Schwarz, Thomas C TC; Ledolter, Karin K; Bonhaus, Douglas D; Paulino, Amy A; Eleuteri, Simona S; Skjevik, Åge A ÅA; Kouznetsova, Valentina L VL; Spencer, Brian B; Desplats, Paula P; Gonzalez-Ruelas, Tania T; Trejo-Morales, Margarita M; Overk, Cassia R CR; Winter, Stefan S; Zhu, Chunni C; Chesselet, Marie-Francoise MF; Meier, Dieter D; Moessler, Herbert H; Konrat, Robert R; Masliah, Eliezer E
Publication Date: 2016-12

Variant appearance in text: SNCA: E57K
PubMed Link: 27679481
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alpha-Synuclein Oligomers-Neurotoxic Molecules in Parkinson's Disease and Other Lewy Body Disorders.

Frontiers In Neuroscience
Ingelsson, Martin M
Publication Date: 2016

Variant appearance in text: NACP: E57K
PubMed Link: 27656123
Variant Present in the following documents:
  • fnins-10-00408.pdf
View BVdb publication page



The associations between Parkinson's disease and cancer: the plot thickens.

Translational Neurodegeneration
Feng, Danielle D DD; Cai, Waijiao W; Chen, Xiqun X
Publication Date: 2015

Variant appearance in text: SNCA: E57K
PubMed Link: 26504519
Variant Present in the following documents:
  • Main text
  • 40035_2015_Article_43.pdf
View BVdb publication page



Effects of impaired membrane interactions on α-synuclein aggregation and neurotoxicity.

Neurobiology Of Disease
Ysselstein, Daniel D; Joshi, Mehul M; Mishra, Vartika V; Griggs, Amy M AM; Asiago, Josephat M JM; McCabe, George P GP; Stanciu, Lia A LA; Post, Carol Beth CB; Rochet, Jean-Christophe JC
Publication Date: 2015-07

Variant appearance in text: SNCA: E57K
PubMed Link: 25931201
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: E57K
PubMed Link: 25393002
Variant Present in the following documents:
  • Main text
  • pgen.1004741.pdf
View BVdb publication page



The many faces of α-synuclein: from structure and toxicity to therapeutic target.

Nature Reviews. Neuroscience
Lashuel, Hilal A HA; Overk, Cassia R CR; Oueslati, Abid A; Masliah, Eliezer E
Publication Date: 2013-01

Variant appearance in text: SNCA: E57K
PubMed Link: 23254192
Variant Present in the following documents:
  • Main text
View BVdb publication page



α-Synuclein oligomers and clinical implications for Parkinson disease.

Annals Of Neurology
Kalia, Lorraine V LV; Kalia, Suneil K SK; McLean, Pamela J PJ; Lozano, Andres M AM; Lang, Anthony E AE
Publication Date: 2013-02

Variant appearance in text: SNCA: E57K
PubMed Link: 23225525
Variant Present in the following documents:
  • Main text
View BVdb publication page