SNCA c.181G>A ;(p.E61K)

Variant ID: 4-90743522-C-T

NM_000345.3(SNCA):c.181G>A;(p.E61K)

This variant was identified in 13 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: E61K
PubMed Link: 37315142
Variant Present in the following documents:
  • Main text
  • sciadv.add8910.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: E61K
PubMed Link: 36289910
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02649.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: E61K
PubMed Link: 36114228
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_380.pdf
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Lipotoxicity Downstream of α-Synuclein Imbalance: A Relevant Pathomechanism in Synucleinopathies?

Biomolecules
Tripathi, Arati A; Fanning, Saranna S; Dettmer, Ulf U
Publication Date: 2021-12-28

Variant appearance in text: SNCA: E61K
PubMed Link: 35053188
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00040.pdf
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Lipotoxicity Downstream of α-Synuclein Imbalance: A Relevant Pathomechanism in Synucleinopathies?

Biomolecules
Tripathi, Arati A; Fanning, Saranna S; Dettmer, Ulf U
Publication Date: 2021-12-28

Variant appearance in text: SNCA: E61K
PubMed Link: 35053188
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00040.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: E61K
PubMed Link: 34572099
Variant Present in the following documents:
  • Main text
  • cells-10-02452.pdf
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Altered conformation of α-synuclein drives dysfunction of synaptic vesicles in a synaptosomal model of Parkinson's disease.

Cell Reports
Fonseca-Ornelas, Luis L; Viennet, Thibault T; Rovere, Matteo M; Jiang, Haiyang H; Liu, Lei L; Nuber, Silke S; Ericsson, Maria M; Arthanari, Haribabu H; Selkoe, Dennis J DJ
Publication Date: 2021-07-06

Variant appearance in text: SNCA: E61K
PubMed Link: 34233191
Variant Present in the following documents:
  • Main text
  • nihms-1747464.pdf
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A Stearoyl-Coenzyme A Desaturase Inhibitor Prevents Multiple Parkinson Disease Phenotypes in α-Synuclein Mice.

Annals Of Neurology
Nuber, Silke S; Nam, Alice Y AY; Rajsombath, Molly M MM; Cirka, Haley H; Hronowski, Xiaoping X; Wang, Junmin J; Hodgetts, Kevin K; Kalinichenko, Liubov S LS; Müller, Christian P CP; Lambrecht, Vera V; Winkler, Jürgen J; Weihofen, Andreas A; Imberdis, Thibaut T; Dettmer, Ulf U; Fanning, Saranna S; Selkoe, Dennis J DJ
Publication Date: 2021-01

Variant appearance in text: SNCA: E61K
PubMed Link: 32996158
Variant Present in the following documents:
  • Main text
  • ANA-89-74.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: E61K
PubMed Link: 32707907
Variant Present in the following documents:
  • Main text
  • ijms-21-05193.pdf
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Parkinson's disease: proteinopathy or lipidopathy?

Npj Parkinson'S Disease
Fanning, Saranna S; Selkoe, Dennis D; Dettmer, Ulf U
Publication Date: 2020

Variant appearance in text: SNCA: E61K
PubMed Link: 31909184
Variant Present in the following documents:
  • Main text
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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: E61K
PubMed Link: 31548371
Variant Present in the following documents:
  • Main text
  • pnas.201903216.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: E61K
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: E61K
PubMed Link: 29969391
Variant Present in the following documents:
  • Main text
  • elife-36402.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: E61K
PubMed Link: 28911198
Variant Present in the following documents:
  • Main text
View BVdb publication page