SNCA c.157G>A ;(p.A53T)

Variant ID: 4-90749300-C-T

NM_000345.3(SNCA):c.157G>A;(p.A53T)

This variant was identified in 1221 publications

View GRCh38 version.




Publications:


Reciprocal effects of alpha-synuclein aggregation and lysosomal homeostasis in synucleinopathy models.

Translational Neurodegeneration
Drobny, Alice A; Boros, Fanni Annamária FA; Balta, Denise D; Prieto Huarcaya, Susy S; Caylioglu, Deniz D; Qazi, Niyeti N; Vandrey, Julia J; Schneider, Yanni Y; Dobert, Jan Philipp JP; Pitcairn, Caleb C; Mazzulli, Joseph Robert JR; Zunke, Friederike F
Publication Date: 2023-06-13

Variant appearance in text: SNCA: A53T
PubMed Link: 37312133
Variant Present in the following documents:
  • Main text
  • 40035_2023_Article_363.pdf
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The Impact of microRNAs on Mitochondrial Function and Immunity: Relevance to Parkinson's Disease.

Biomedicines
Guedes, Beatriz F S BFS; Cardoso, Sandra Morais SM; Esteves, Ana Raquel AR
Publication Date: 2023-05-03

Variant appearance in text: SNCA: A53T
PubMed Link: 37239020
Variant Present in the following documents:
  • biomedicines-11-01349.pdf
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Retinal alpha-synuclein accumulation correlates with retinal dysfunction and structural thinning in the A53T mouse model of Parkinson's disease.

Frontiers In Neuroscience
Tran, Katie K N KKN; Wong, Vickie H Y VHY; Hoang, Anh A; Finkelstein, David I DI; Bui, Bang V BV; Nguyen, Christine T O CTO
Publication Date: 2023

Variant appearance in text: SNCA: A53T
PubMed Link: 37214398
Variant Present in the following documents:
  • Main text
  • fnins-17-1146979.pdf
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The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.

Npj Parkinson'S Disease
Sun, Yi-Min YM; Zhou, Xin-Yue XY; Liang, Xiao-Niu XN; Lin, Jin-Ran JR; Xu, Yi-Dan YD; Chen, Chen C; Wei, Si-Di SD; Chen, Qi-Si QS; Liu, Feng-Tao FT; Zhao, Jue J; Tang, Yi-Lin YL; Shen, Bo B; Gan, Lin-Hua LH; Lu, Boxun B; Ding, Zheng-Tong ZT; An, Yu Y; Wu, Jian-Jun JJ; Wang, Jian J
Publication Date: 2023-05-17

Variant appearance in text: SNCA: A53T
PubMed Link: 37198191
Variant Present in the following documents:
  • 41531_2023_518_MOESM1_ESM.pdf
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CRISPR/Cas9 assisted stem cell therapy in Parkinson's disease.

Biomaterials Research
Pinjala, Poojitha P; Tryphena, Kamatham Pushpa KP; Prasad, Renuka R; Khatri, Dharmendra Kumar DK; Sun, Woong W; Singh, Shashi Bala SB; Gugulothu, Dalapathi D; Srivastava, Saurabh S; Vora, Lalitkumar L
Publication Date: 2023-05-16

Variant appearance in text: SNCA: A53T
PubMed Link: 37194005
Variant Present in the following documents:
  • Main text
  • 40824_2023_Article_381.pdf
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Midbrain dopamine oxidation links ubiquitination of glutathione peroxidase 4 to ferroptosis of dopaminergic neurons.

The Journal Of Clinical Investigation
Sun, Jie J; Lin, Xiao-Min XM; Lu, Dan-Hua DH; Wang, Meng M; Li, Kun K; Li, Sheng-Rong SR; Li, Zheng-Qiu ZQ; Zhu, Cheng-Jun CJ; Zhang, Zhi-Min ZM; Yan, Chang-Yu CY; Pan, Ming-Hai MH; Gong, Hai-Biao HB; Feng, Jing-Cheng JC; Cao, Yun-Feng YF; Huang, Feng F; Sun, Wan-Yang WY; Kurihara, Hiroshi H; Li, Yi-Fang YF; Duan, Wen-Jun WJ; Jiao, Gen-Long GL; Zhang, Li L; He, Rong-Rong RR
Publication Date: 2023-05-15

Variant appearance in text: SNCA: A53T
PubMed Link: 37183824
Variant Present in the following documents:
  • jci-133-165228.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: A53T
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: A53T
PubMed Link: 37163091
Variant Present in the following documents:
  • nihpp-2023.04.23.537965v1.pdf
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Mitochondrial Bioenergy in Neurodegenerative Disease: Huntington and Parkinson.

International Journal Of Molecular Sciences
Tassone, Annalisa A; Meringolo, Maria M; Ponterio, Giulia G; Bonsi, Paola P; Schirinzi, Tommaso T; Martella, Giuseppina G
Publication Date: 2023-04-13

Variant appearance in text: SNCA: A53T
PubMed Link: 37108382
Variant Present in the following documents:
  • Main text
  • ijms-24-07221.pdf
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Analysis of rare Parkinson's disease variants in millions of people.

Research Square
Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C
Publication Date: 2023-04-10

Variant appearance in text: SNCA: A53T
PubMed Link: 37090536
Variant Present in the following documents:
  • nihpp-rs2743857v1.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: A53T
PubMed Link: 37087484
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5807.pdf
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Octopamine metabolically reprograms astrocytes to confer neuroprotection against α-synuclein.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shum, Andrew A; Zaichick, Sofia S; McElroy, Gregory S GS; D'Alessandro, Karis K; Alasady, Milad J MJ; Novakovic, Michaela M; Peng, Wesley W; Grebenik, Ekaterina A EA; Chung, Daayun D; Flanagan, Margaret E ME; Smith, Roger R; Morales, Alejandro A; Stumpf, Laetitia L; McGrath, Kaitlyn K; Krainc, Dimitri D; Mendillo, Marc L ML; Prakriya, Murali M; Chandel, Navdeep S NS; Caraveo, Gabriela G
Publication Date: 2023-04-25

Variant appearance in text: SNCA: A53T
PubMed Link: 37068235
Variant Present in the following documents:
  • pnas.2217396120.sapp.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: A53T
PubMed Link: 37014703
Variant Present in the following documents:
  • jci-133-157782.pdf
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Genetics of Neurogenic Orthostatic Hypotension in Parkinson's Disease, Results from a Cross-Sectional In Silico Study.

Brain Sciences
Chevalier, Guenson G; Udovin, Lucas L; Otero-Losada, Matilde M; Bordet, Sofia S; Capani, Francisco F; Luo, Sheng S; Goetz, Christopher G CG; Perez-Lloret, Santiago S
Publication Date: 2023-03-17

Variant appearance in text: rs104893877
PubMed Link: 36979316
Variant Present in the following documents:
  • Main text
  • brainsci-13-00506.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: A53T
PubMed Link: 36976861
Variant Present in the following documents:
  • Main text
  • js2c00339.pdf
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The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Cell Genomics
Bressan, Elisangela E; Reed, Xylena X; Bansal, Vikas V; Hutchins, Elizabeth E; Cobb, Melanie M MM; Webb, Michelle G MG; Alsop, Eric E; Grenn, Francis P FP; Illarionova, Anastasia A; Savytska, Natalia N; Violich, Ivo I; Broeer, Stefanie S; Fernandes, Noémia N; Sivakumar, Ramiyapriya R; Beilina, Alexandra A; Billingsley, Kimberley J KJ; Berghausen, Joos J; Pantazis, Caroline B CB; Pitz, Vanessa V; Patel, Dhairya D; Daida, Kensuke K; Meechoovet, Bessie B; Reiman, Rebecca R; Courtright-Lim, Amanda A; Logemann, Amber A; Antone, Jerry J; Barch, Mariya M; Kitchen, Robert R; Li, Yan Y; Dalgard, Clifton L CL; , ; Rizzu, Patrizia P; Hernandez, Dena G DG; Hjelm, Brooke E BE; Nalls, Mike M; Gibbs, J Raphael JR; Finkbeiner, Steven S; Cookson, Mark R MR; Van Keuren-Jensen, Kendall K; Craig, David W DW; Singleton, Andrew B AB; Heutink, Peter P; Blauwendraat, Cornelis C
Publication Date: 2023-03-08

Variant appearance in text: SNCA: A53T
PubMed Link: 36950378
Variant Present in the following documents:
  • Main text
  • mmc10.pdf
  • main.pdf
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Genetic testing for Parkinson's disease in clinical practice.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Gasser, Thomas T
Publication Date: 2023-03-16

Variant appearance in text: SNCA: A53T
PubMed Link: 36929227
Variant Present in the following documents:
  • Main text
  • 702_2023_Article_2612.pdf
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The Role of Alpha-Synuclein Deposits in Parkinson's Disease: A Focus on the Human Retina.

International Journal Of Molecular Sciences
Di Pippo, Mariachiara M; Fragiotta, Serena S; Di Staso, Federico F; Scuderi, Luca L; Abdolrahimzadeh, Solmaz S
Publication Date: 2023-02-23

Variant appearance in text: PARK1: Ala53Thr
PubMed Link: 36901822
Variant Present in the following documents:
  • Main text
  • ijms-24-04391.pdf
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Sphingolipids in neurodegenerative diseases.

Frontiers In Neuroscience
Pan, Xueyang X; Dutta, Debdeep D; Lu, Shenzhao S; Bellen, Hugo J HJ
Publication Date: 2023

Variant appearance in text: SNCA: A53T
PubMed Link: 36875645
Variant Present in the following documents:
  • Main text
  • fnins-17-1137893.pdf
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Age-Related Changes of the Synucleins Profile in the Mouse Retina.

Biomolecules
Dias, Sarah Batista SB; de Lemos, Luísa L; Sousa, Luís L; Bitoque, Diogo B DB; Silva, Gabriela Araújo GA; Seabra, Miguel C MC; Tenreiro, Sandra S
Publication Date: 2023-01-15

Variant appearance in text: SNCA: A53T
PubMed Link: 36671565
Variant Present in the following documents:
  • biomolecules-13-00180.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: A53T
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: A53T
PubMed Link: 36626307
Variant Present in the following documents:
  • Main text
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The Consequences of GBA Deficiency in the Autophagy-Lysosome System in Parkinson's Disease Associated with GBA.

Cells
Pradas, Eddie E; Martinez-Vicente, Marta M
Publication Date: 2023-01-03

Variant appearance in text: SNCA: A53T
PubMed Link: 36611984
Variant Present in the following documents:
  • Main text
  • cells-12-00191.pdf
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C/EBPβ/AEP is age-dependently activated in Parkinson's disease and mediates α-synuclein in the gut and brain.

Npj Parkinson'S Disease
Wang, Hualong H; Chen, Guiqin G; Ahn, Eun Hee EH; Xia, Yiyuan Y; Kang, Seong Su SS; Liu, Xia X; Liu, Chang C; Han, Ming-Hu MH; Chen, Shengdi S; Ye, Keqiang K
Publication Date: 2023-01-06

Variant appearance in text: SNCA: A53T
PubMed Link: 36609384
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_430.pdf
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The glucocerebrosidase mutations and uric acid levels in Parkinson's disease: A 3-years investigation of a potential biomarker".

Clinical Parkinsonism & Related Disorders
Mozafar, Mehrdad M; Kazemian, Sina S; Hoseini, Elahe E; Mohammadi, Mohammad M; Alimoghadam, Rojina R; Shafie, Mahan M; Mayeli, Mahsa M; ,
Publication Date: 2023

Variant appearance in text: SNCA: A53T
PubMed Link: 36590455
Variant Present in the following documents:
  • main.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: A53T
PubMed Link: 36587215
Variant Present in the following documents:
  • Main text
  • 13195_2022_Article_1150.pdf
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Mechanisms of Autoimmune Cell in DA Neuron Apoptosis of Parkinson's Disease: Recent Advancement.

Oxidative Medicine And Cellular Longevity
Zheng, Zijian Z; Zhang, Shushan S; Zhang, Hanwen H; Gao, Zhongzheng Z; Wang, Xiangrong X; Liu, Xinjie X; Xue, Cheng C; Yao, Longping L; Lu, Guohui G
Publication Date: 2022

Variant appearance in text: SNCA: A53T
PubMed Link: 36567855
Variant Present in the following documents:
  • OMCL2022-7965433.pdf
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How Well Do Rodent Models of Parkinson's Disease Recapitulate Early Non-Motor Phenotypes? A Systematic Review.

Biomedicines
Zhang, Tracy D TD; Kolbe, Scott C SC; Beauchamp, Leah C LC; Woodbridge, Ella K EK; Finkelstein, David I DI; Burrows, Emma L EL
Publication Date: 2022-11-24

Variant appearance in text: SNCA: A53T
PubMed Link: 36551782
Variant Present in the following documents:
  • Main text
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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: A53T
PubMed Link: 36535953
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_434.pdf
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Precision medicine for Parkinson's disease: The subtyping challenge.

Frontiers In Aging Neuroscience
Frasier, Mark M; Fiske, Brian K BK; Sherer, Todd B TB
Publication Date: 2022

Variant appearance in text: SNCA: A53T
PubMed Link: 36533178
Variant Present in the following documents:
  • fnagi-14-1064057.pdf
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Granulovacuolar degeneration bodies are independently induced by tau and α-synuclein pathology.

Alzheimer'S Research & Therapy
Jorge-Oliva, Marta M; Smits, Jasper F M JFM; Wiersma, Vera I VI; Hoozemans, Jeroen J M JJM; Scheper, Wiep W
Publication Date: 2022-12-14

Variant appearance in text: SNCA: A53T
PubMed Link: 36517915
Variant Present in the following documents:
  • 13195_2022_Article_1128.pdf
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Hypoxic stress accelerates the propagation of pathological alpha-synuclein and degeneration of dopaminergic neurons.

Cns Neuroscience & Therapeutics
Guo, Mengyuan M; Liu, Weijin W; Luo, Hanjiang H; Shao, Qianqian Q; Li, Yuning Y; Gu, Yakun Y; Guan, Yuying Y; Ma, Wei W; Chen, Min M; Yang, Hui H; Ji, Xunming X; Liu, Jia J
Publication Date: 2022-12-13

Variant appearance in text: SNCA: A53T
PubMed Link: 36514210
Variant Present in the following documents:
  • CNS-29-544.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: A53T
PubMed Link: 36502340
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd223380.pdf
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Mitochondrial dysfunction of induced pluripotent stem cells-based neurodegenerative disease modeling and therapeutic strategy.

Frontiers In Cell And Developmental Biology
Luo, Hong-Mei HM; Xu, Jia J; Huang, Dan-Xia DX; Chen, Yun-Qiang YQ; Liu, Yi-Zhou YZ; Li, Ya-Jie YJ; Chen, Hong H
Publication Date: 2022

Variant appearance in text: SNCA: A53T
PubMed Link: 36478742
Variant Present in the following documents:
  • Main text
  • fcell-10-1030390.pdf
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Multiple system atrophy: α-Synuclein strains at the neuron-oligodendrocyte crossroad.

Molecular Neurodegeneration
Reddy, Kreesan K; Dieriks, Birger Victor BV
Publication Date: 2022-11-26

Variant appearance in text: SNCA: A53T
PubMed Link: 36435784
Variant Present in the following documents:
  • Main text
  • 13024_2022_Article_579.pdf
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