SNCA c.103G>A ;(p.E35K)

Variant ID: 4-90756716-C-T

NM_000345.3(SNCA):c.103G>A;(p.E35K)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Monitoring α-synuclein ubiquitination dynamics reveals key endosomal effectors mediating its trafficking and degradation.

Science Advances
Zenko, Dmitry D; Marsh, Jade J; Castle, Andrew R AR; Lewin, Rahel R; Fischer, Roman R; Tofaris, George K GK
Publication Date: 2023-06-16

Variant appearance in text: SNCA: E35K
PubMed Link: 37315142
Variant Present in the following documents:
  • Main text
  • sciadv.add8910.pdf
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Synucleins: New Data on Misfolding, Aggregation and Role in Diseases.

Biomedicines
Surguchov, Andrei A; Surguchev, Alexei A
Publication Date: 2022-12-13

Variant appearance in text: SNCA: E35K
PubMed Link: 36551997
Variant Present in the following documents:
  • biomedicines-10-03241.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: E35K
PubMed Link: 36289910
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02649.pdf
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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: E35K
PubMed Link: 36229715
Variant Present in the following documents:
  • Main text
  • 12264_2022_Article_957.pdf
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Parkinson-causing mutations in LRRK2 impair the physiological tetramerization of endogenous α-synuclein in human neurons.

Npj Parkinson'S Disease
Fonseca-Ornelas, Luis L; Stricker, Jonathan M S JMS; Soriano-Cruz, Stephanie S; Weykopf, Beatrice B; Dettmer, Ulf U; Muratore, Christina R CR; Scherzer, Clemens R CR; Selkoe, Dennis J DJ
Publication Date: 2022-09-16

Variant appearance in text: SNCA: E35K
PubMed Link: 36114228
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_380.pdf
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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: E35K
PubMed Link: 35286811
Variant Present in the following documents:
  • Main text
  • cn1c00553.pdf
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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: E35K
PubMed Link: 34798911
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: E35K
PubMed Link: 34572099
Variant Present in the following documents:
  • Main text
  • cells-10-02452.pdf
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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: E35K
PubMed Link: 34361100
Variant Present in the following documents:
  • Main text
  • ijms-22-08338.pdf
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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: E35K
PubMed Link: 34239711
Variant Present in the following documents:
  • Main text
  • ns-05-ns20210021.pdf
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The Role of Lipids in the Initiation of α-Synuclein Misfolding.

Frontiers In Cell And Developmental Biology
Kiechle, Martin M; Grozdanov, Veselin V; Danzer, Karin M KM
Publication Date: 2020

Variant appearance in text: SNCA: E35K
PubMed Link: 33042996
Variant Present in the following documents:
  • fcell-08-562241.pdf
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Rapid Alpha-Synuclein Toxicity in a Neural Cell Model and Its Rescue by a Stearoyl-CoA Desaturase Inhibitor.

International Journal Of Molecular Sciences
Terry-Kantor, Elizabeth E; Tripathi, Arati A; Imberdis, Thibaut T; LaVoie, Zachary M ZM; Ho, Gary P H GPH; Selkoe, Dennis D; Fanning, Saranna S; Ramalingam, Nagendran N; Dettmer, Ulf U
Publication Date: 2020-07-22

Variant appearance in text: SNCA: E35K
PubMed Link: 32707907
Variant Present in the following documents:
  • Main text
  • ijms-21-05193.pdf
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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: SNCA: E35K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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Cell models of lipid-rich α-synuclein aggregation validate known modifiers of α-synuclein biology and identify stearoyl-CoA desaturase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Imberdis, Thibaut T; Negri, Joseph J; Ramalingam, Nagendran N; Terry-Kantor, Elizabeth E; Ho, Gary P H GPH; Fanning, Saranna S; Stirtz, Georgia G; Kim, Tae-Eun TE; Levy, Oren A OA; Young-Pearse, Tracy L TL; Selkoe, Dennis D; Dettmer, Ulf U
Publication Date: 2019-10-08

Variant appearance in text: SNCA: E35K
PubMed Link: 31548371
Variant Present in the following documents:
  • Main text
  • pnas.201903216.pdf
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Spreading of α-Synuclein and Tau: A Systematic Comparison of the Mechanisms Involved.

Frontiers In Molecular Neuroscience
Vasili, Eftychia E; Dominguez-Meijide, Antonio A; Outeiro, Tiago Fleming TF
Publication Date: 2019

Variant appearance in text: SNCA: E35K
PubMed Link: 31105524
Variant Present in the following documents:
  • Main text
  • fnmol-12-00107.pdf
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Abrogating Native α-Synuclein Tetramers in Mice Causes a L-DOPA-Responsive Motor Syndrome Closely Resembling Parkinson's Disease.

Neuron
Nuber, Silke S; Rajsombath, Molly M; Minakaki, Georgia G; Winkler, Jürgen J; Müller, Christian P CP; Ericsson, Maria M; Caldarone, Barbara B; Dettmer, Ulf U; Selkoe, Dennis J DJ
Publication Date: 2018-10-10

Variant appearance in text: SNCA: E35K
PubMed Link: 30308173
Variant Present in the following documents:
  • Main text
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Cryo-EM structure of alpha-synuclein fibrils.

Elife
Guerrero-Ferreira, Ricardo R; Taylor, Nicholas Mi NM; Mona, Daniel D; Ringler, Philippe P; Lauer, Matthias E ME; Riek, Roland R; Britschgi, Markus M; Stahlberg, Henning H
Publication Date: 2018-07-03

Variant appearance in text: SNCA: E35K
PubMed Link: 29969391
Variant Present in the following documents:
  • Main text
  • elife-36402.pdf
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Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

International Journal Of Molecular Sciences
Coskuner-Weber, Orkid O; Uversky, Vladimir N VN
Publication Date: 2018-01-24

Variant appearance in text: SNCA: E35K
PubMed Link: 29364151
Variant Present in the following documents:
  • Main text
  • ijms-19-00336.pdf
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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: E35K
PubMed Link: 28911198
Variant Present in the following documents:
  • Main text
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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: E35K
PubMed Link: 28803412
Variant Present in the following documents:
  • Main text
  • 401_2017_Article_1755.pdf
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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: E35K
PubMed Link: 27656123
Variant Present in the following documents:
  • fnins-10-00408.pdf
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Versatile Structures of α-Synuclein.

Frontiers In Molecular Neuroscience
Wang, Chuchu C; Zhao, Chunyu C; Li, Dan D; Tian, Zhiqi Z; Lai, Ying Y; Diao, Jiajie J; Liu, Cong C
Publication Date: 2016

Variant appearance in text: SNCA: E35K
PubMed Link: 27378848
Variant Present in the following documents:
  • Main text
  • fnmol-09-00048.pdf
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Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Journal Of Neurochemistry
Hernandez, Dena G DG; Reed, Xylena X; Singleton, Andrew B AB
Publication Date: 2016-10

Variant appearance in text: SNCA: E35K
PubMed Link: 27090875
Variant Present in the following documents:
  • Main text
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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: E35K
PubMed Link: 25393002
Variant Present in the following documents:
  • Main text
  • pgen.1004741.pdf
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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: E35K
PubMed Link: 23225525
Variant Present in the following documents:
  • Main text
View BVdb publication page