SNCA c.136G>A ;(p.E46K)

Variant ID: 4-90749321-C-T

NM_000345.3(SNCA):c.136G>A;(p.E46K)

This variant was identified in 632 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: E46K
PubMed Link: 37315142
Variant Present in the following documents:
  • Main text
  • sciadv.add8910.pdf
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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: E46K
PubMed Link: 37214999
Variant Present in the following documents:
  • nihpp-2023.05.06.539715v1.pdf
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A pesticide and iPSC dopaminergic neuron screen identifies and classifies Parkinson-relevant pesticides.

Nature Communications
Paul, Kimberly C KC; Krolewski, Richard C RC; Lucumi Moreno, Edinson E; Blank, Jack J; Holton, Kristina M KM; Ahfeldt, Tim T; Furlong, Melissa M; Yu, Yu Y; Cockburn, Myles M; Thompson, Laura K LK; Kreymerman, Alexander A; Ricci-Blair, Elisabeth M EM; Li, Yu Jun YJ; Patel, Heer B HB; Lee, Richard T RT; Bronstein, Jeff J; Rubin, Lee L LL; Khurana, Vikram V; Ritz, Beate B
Publication Date: 2023-05-16

Variant appearance in text: SNCA: E46K
PubMed Link: 37193692
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_38215.pdf
  • 41467_2023_38215_MOESM2_ESM.pdf
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Histone Deacetylase 4 Inhibition Reduces Rotenone-Induced Alpha-Synuclein Accumulation via Autophagy in SH-SY5Y Cells.

Brain Sciences
Wang, Luxi L; Liu, Ling L; Han, Chao C; Jiang, Haiyang H; Ma, Kai K; Guo, Shiyi S; Xia, Yun Y; Wan, Fang F; Huang, Jinsha J; Xiong, Nian N; Wang, Tao T
Publication Date: 2023-04-16

Variant appearance in text: SNCA: E46K
PubMed Link: 37190635
Variant Present in the following documents:
  • Main text
  • brainsci-13-00670.pdf
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Concomitant protein pathogenesis in Parkinson's disease and perspective mechanisms.

Frontiers In Aging Neuroscience
Han, Yuliang Y; He, Zhuohao Z
Publication Date: 2023

Variant appearance in text: SNCA: E46K
PubMed Link: 37181621
Variant Present in the following documents:
  • Main text
  • fnagi-15-1189809.pdf
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Alpha Synuclein Modulates Mitochondrial Ca 2+ Uptake from ER During Cell Stimulation and Under Stress Conditions.

Biorxiv : The Preprint Server For Biology
Ramezani, Meraj M; Wagenknecht-Wiesner, Alice A; Wang, Tong T; Holowka, David A DA; Eliezer, David D; Baird, Barbara A BA
Publication Date: 2023-04-24

Variant appearance in text: SNCA: E46K
PubMed Link: 37163091
Variant Present in the following documents:
  • nihpp-2023.04.23.537965v1.pdf
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Pathophysiology and Neuroimmune Interactions Underlying Parkinson's Disease and Traumatic Brain Injury.

International Journal Of Molecular Sciences
Lillian, Alyssa A; Zuo, Wanhong W; Laham, Linda L; Hilfiker, Sabine S; Ye, Jiang-Hong JH
Publication Date: 2023-04-13

Variant appearance in text: SNCA: E46K
PubMed Link: 37108349
Variant Present in the following documents:
  • Main text
  • ijms-24-07186.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: E46K
PubMed Link: 37087484
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5807.pdf
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Kisspeptin-10 Mitigates α-Synuclein-Mediated Mitochondrial Apoptosis in SH-SY5Y-Derived Neurons via a Kisspeptin Receptor-Independent Manner.

International Journal Of Molecular Sciences
Simon, Christopher C; Soga, Tomoko T; Parhar, Ishwar I
Publication Date: 2023-03-23

Variant appearance in text: SNCA: E46K
PubMed Link: 37047030
Variant Present in the following documents:
  • ijms-24-06056.pdf
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Alpha Synuclein: Neurodegeneration and Inflammation.

International Journal Of Molecular Sciences
Forloni, Gianluigi G
Publication Date: 2023-03-21

Variant appearance in text: NACP: E46K
PubMed Link: 36982988
Variant Present in the following documents:
  • ijms-24-05914.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: E46K
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: E46K
PubMed Link: 36976861
Variant Present in the following documents:
  • Main text
  • js2c00339.pdf
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A Review of Genetic and Gene Therapy for Parkinson's Disease.

Cureus
Dumbhare, Omkar O; Gaurkar, Sagar S SS
Publication Date: 2023-02

Variant appearance in text: SNCA: E46K
PubMed Link: 36909056
Variant Present in the following documents:
  • Main text
  • cureus-0015-00000034657.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: E46K
PubMed Link: 36704248
Variant Present in the following documents:
  • Main text
  • fncel-16-1081426.pdf
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Graph theoretical network analysis, in silico exploration, and validation of bioactive compounds from Cynodon dactylon as potential neuroprotective agents against α-synuclein.

Bioimpacts : Bi
Rajeshkumar, Raja Rajeswari RR; Kumar, Banoth Karan BK; Parasuraman, Pavadai P; Panneerselvam, Theivendren T; Sundar, Krishnan K; Ammunje, Damodar Nayak DN; Ram Kumar Pandian, Sureshbabu S; Murugesan, Sankaranarayanan S; Kabilan, Shanmugampillai Jeyarajaguru SJ; Kunjiappan, Selvaraj S
Publication Date: 2022

Variant appearance in text: PARK1: E46K
PubMed Link: 36644543
Variant Present in the following documents:
  • Main text
  • bi-12-487.pdf
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Unconventional secretion of α-synuclein mediated by palmitoylated DNAJC5 oligomers.

Elife
Wu, Shenjie S; Hernandez Villegas, Nancy C NC; Sirkis, Daniel W DW; Thomas-Wright, Iona I; Wade-Martins, Richard R; Schekman, Randy R
Publication Date: 2023-01-10

Variant appearance in text: SNCA: E46K
PubMed Link: 36626307
Variant Present in the following documents:
  • Main text
  • elife-85837.pdf
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Alpha-synuclein: a pathological factor with Aβ and tau and biomarker in Alzheimer's disease.

Alzheimer'S Research & Therapy
Shim, Kyu Hwan KH; Kang, Min Ju MJ; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2022-12-31

Variant appearance in text: SNCA: E46K
PubMed Link: 36587215
Variant Present in the following documents:
  • Main text
  • 13195_2022_Article_1150.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: Glu46Lys
PubMed Link: 36555748
Variant Present in the following documents:
  • ijms-23-16096.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: E46K
PubMed Link: 36551997
Variant Present in the following documents:
  • biomedicines-10-03241.pdf
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Optical pulse labeling studies reveal exogenous seeding slows α-synuclein clearance.

Npj Parkinson'S Disease
Croft, Cara L CL; Paterno, Giavanna G; Vause, Ava R AR; Rowe, Lyla A LA; Ryu, Daniel H DH; Goodwin, Marshall S MS; Moran, Corey A CA; Cruz, Pedro E PE; Giasson, Benoit I BI; Golde, Todd E TE
Publication Date: 2022-12-19

Variant appearance in text: SNCA: E46K
PubMed Link: 36535953
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_434.pdf
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Early-Onset Parkinson's Disease: Creating the Right Environment for a Genetic Disorder.

Journal Of Parkinson'S Disease
Kolicheski, Ana A; Turcano, Pierpaolo P; Tamvaka, Nicole N; McLean, Pamela J PJ; Springer, Wolfdieter W; Savica, Rodolfo R; Ross, Owen A OA
Publication Date: 2022-12-05

Variant appearance in text: SNCA: E46K
PubMed Link: 36502340
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd223380.pdf
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α-Synuclein Disrupts Vesicle Fusion by Two Mutant-Specific Mechanisms.

Molecules And Cells
Yoo, Gyeongji G; An, Hyeong Jeon HJ; Yeou, Sanghun S; Lee, Nam Ki NK
Publication Date: 2022-11-30

Variant appearance in text: SNCA: E46K
PubMed Link: 36380732
Variant Present in the following documents:
  • Main text
  • molce-45-11-806.pdf
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Epigenome-Wide Association Study in Peripheral Tissues Highlights DNA Methylation Profiles Associated with Episodic Memory Performance in Humans.

Biomedicines
Sommerer, Yasmine Y; Dobricic, Valerija V; Schilling, Marcel M; Ohlei, Olena O; Bartrés-Faz, David D; Cattaneo, Gabriele G; Demuth, Ilja I; Düzel, Sandra S; Franzenburg, Sören S; Fuß, Janina J; Lindenberger, Ulman U; Pascual-Leone, Álvaro Á; Sabet, Sanaz Sedghpour SS; Solé-Padullés, Cristina C; Tormos, Josep M JM; Vetter, Valentin Max VM; Wesse, Tanja T; Franke, Andre A; Lill, Christina M CM; Bertram, Lars L
Publication Date: 2022-11-03

Variant appearance in text: SNCA: E46K
PubMed Link: 36359320
Variant Present in the following documents:
  • biomedicines-10-02798.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: E46K
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: E46K
PubMed Link: 36229715
Variant Present in the following documents:
  • Main text
  • 12264_2022_Article_957.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: E46K
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: E46K
PubMed Link: 36111783
Variant Present in the following documents:
  • Main text
  • BST-50-1303.pdf
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Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity.

Nature Neuroscience
Choi, Minee L ML; Chappard, Alexandre A; Singh, Bhanu P BP; Maclachlan, Catherine C; Rodrigues, Margarida M; Fedotova, Evgeniya I EI; Berezhnov, Alexey V AV; De, Suman S; Peddie, Christopher J CJ; Athauda, Dilan D; Virdi, Gurvir S GS; Zhang, Weijia W; Evans, James R JR; Wernick, Anna I AI; Zanjani, Zeinab Shadman ZS; Angelova, Plamena R PR; Esteras, Noemi N; Vinokurov, Andrey Y AY; Morris, Katie K; Jeacock, Kiani K; Tosatto, Laura L; Little, Daniel D; Gissen, Paul P; Clarke, David J DJ; Kunath, Tilo T; Collinson, Lucy L; Klenerman, David D; Abramov, Andrey Y AY; Horrocks, Mathew H MH; Gandhi, Sonia S
Publication Date: 2022-09

Variant appearance in text: SNCA: E46K
PubMed Link: 36042314
Variant Present in the following documents:
  • Main text
  • 41593_2022_Article_1140.pdf
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Failure of diet-induced transcriptional adaptations in alpha-synuclein transgenic mice.

Human Molecular Genetics
Kilzheimer, Alexander A; Hentrich, Thomas T; Rotermund, Carola C; Kahle, Philipp J PJ; Schulze-Hentrich, Julia M JM
Publication Date: 2022-08-24

Variant appearance in text: SNCA: E46K
PubMed Link: 36001352
Variant Present in the following documents:
  • ddac205.pdf
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N-Terminal Acetylation of α-Synuclein Slows down Its Aggregation Process and Alters the Morphology of the Resulting Aggregates.

Biochemistry
Bell, Rosie R; Thrush, Rebecca J RJ; Castellana-Cruz, Marta M; Oeller, Marc M; Staats, Roxine R; Nene, Aishwarya A; Flagmeier, Patrick P; Xu, Catherine K CK; Satapathy, Sandeep S; Galvagnion, Celine C; Wilson, Mark R MR; Dobson, Christopher M CM; Kumita, Janet R JR; Vendruscolo, Michele M
Publication Date: 2022-09-06

Variant appearance in text: SNCA: E46K
PubMed Link: 35944093
Variant Present in the following documents:
  • Main text
  • bi2c00104.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: E46K
PubMed Link: 35894540
Variant Present in the following documents:
  • Main text
  • MDS-37-2075.pdf
  • MDS-37-2075-s001.pdf
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Astrocytes in Neurodegeneration: Inspiration From Genetics.

Frontiers In Neuroscience
Huang, Jingxuan J; Li, Chunyu C; Shang, Huifang H
Publication Date: 2022

Variant appearance in text: SNCA: E46K
PubMed Link: 35812232
Variant Present in the following documents:
  • Main text
View BVdb publication page