SNCA c.88G>C ;(p.A30P)

Variant ID: 4-90756731-C-G

NM_000345.3(SNCA):c.88G>C;(p.A30P)

This variant was identified in 818 publications

View GRCh38 version.




Publications:


AAV-mediated expression of a new conformational anti-aggregated α-synuclein antibody prolongs survival in a genetic model of α-synucleinopathies.

Npj Parkinson'S Disease
Düchs, Matthias M; Blazevic, Dragica D; Rechtsteiner, Philipp P; Kenny, Cynthia C; Lamla, Thorsten T; Low, Sarah S; Savistchenko, Jimmy J; Neumann, Manuela M; Melki, Ronald R; Schönberger, Tanja T; Stierstorfer, Birgit B; Wyatt, David D; Igney, Frederik F; Ciossek, Thomas T
Publication Date: 2023-06-15

Variant appearance in text: SNCA: A30P
PubMed Link: 37322068
Variant Present in the following documents:
  • Main text
  • 41531_2023_Article_542.pdf
  • 41531_2023_542_MOESM1_ESM.pdf
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Serum and Exosomal miR-7-1-5p and miR-223-3p as Possible Biomarkers for Parkinson's Disease.

Biomolecules
Citterio, Lorenzo Agostino LA; Mancuso, Roberta R; Agostini, Simone S; Meloni, Mario M; Clerici, Mario M
Publication Date: 2023-05-19

Variant appearance in text: SNCA: A30P
PubMed Link: 37238734
Variant Present in the following documents:
  • biomolecules-13-00865.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: A30P
PubMed Link: 37214398
Variant Present in the following documents:
  • Main text
  • fnins-17-1146979.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: A30P
PubMed Link: 37194005
Variant Present in the following documents:
  • Main text
  • 40824_2023_Article_381.pdf
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Novel Insight into Functions of Transcription Factor EB (TFEB) in Alzheimer's Disease and Parkinson's Disease.

Aging And Disease
Yang, Jing J; Zhang, Wei W; Zhang, Shugeng S; Iyaswamy, Ashok A; Sun, Jichao J; Wang, Jigang J; Yang, Chuanbin C
Publication Date: 2023-06-01

Variant appearance in text: SNCA: A30P
PubMed Link: 37191408
Variant Present in the following documents:
  • Main text
  • ad-14-3-652.pdf
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Neuropathology of incidental Lewy body & prodromal Parkinson's disease.

Molecular Neurodegeneration
Koeglsperger, Thomas T; Rumpf, Svenja-Lotta SL; Schließer, Patricia P; Struebing, Felix L FL; Brendel, Matthias M; Levin, Johannes J; Trenkwalder, Claudia C; Höglinger, Günter U GU; Herms, Jochen J
Publication Date: 2023-05-12

Variant appearance in text: SNCA: Ala30Pro
PubMed Link: 37173733
Variant Present in the following documents:
  • 13024_2023_Article_622.pdf
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Mutations in α-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases.

Molecular Neurodegeneration
Sampognaro, Paul J PJ; Arya, Shruti S; Knudsen, Giselle M GM; Gunderson, Emma L EL; Sandoval-Perez, Angelica A; Hodul, Molly M; Bowles, Katherine K; Craik, Charles S CS; Jacobson, Matthew P MP; Kao, Aimee W AW
Publication Date: 2023-05-02

Variant appearance in text: SNCA: A30P
PubMed Link: 37131250
Variant Present in the following documents:
  • Main text
  • 13024_2023_Article_621.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: A30P
PubMed Link: 37087484
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5807.pdf
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Unraveling the Complex Interplay between Alpha-Synuclein and Epigenetic Modification.

International Journal Of Molecular Sciences
Sugeno, Naoto N; Hasegawa, Takafumi T
Publication Date: 2023-04-02

Variant appearance in text: SNCA: A30P
PubMed Link: 37047616
Variant Present in the following documents:
  • Main text
  • ijms-24-06645.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: Ala30Pro
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: A30P
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: A30P
PubMed Link: 36976861
Variant Present in the following documents:
  • Main text
  • js2c00339.pdf
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MAPKAPK2, a potential dynamic network biomarker of α-synuclein prior to its aggregation in PD patients.

Npj Parkinson'S Disease
Zhong, Zhenggang Z; Li, Jiabao J; Zhong, Jiayuan J; Huang, Yilin Y; Hu, Jiaqi J; Zhang, Piao P; Zhang, Baowen B; Jin, Yabin Y; Luo, Wei W; Liu, Rui R; Zhang, Yuhu Y; Ling, Fei F
Publication Date: 2023-03-16

Variant appearance in text: SNCA: A30P
PubMed Link: 36927756
Variant Present in the following documents:
  • Main text
  • 41531_2023_Article_479.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: Ala30Pro
PubMed Link: 36901822
Variant Present in the following documents:
  • Main text
  • ijms-24-04391.pdf
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Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Brain And Behavior
Do, Minh Duc MD; Tran, Tai Ngoc TN; Luong, An Bac AB; Le, Linh Hoang Gia LHG; Van Le, Tuan T; Le, Khuong Thai KT; Van Vo, Niem Thanh NT; Le, Thuc-Nhi Nguyen TN; Vu, Hoang Anh HA; Mai, Thao Phuong TP
Publication Date: 2023-03-06

Variant appearance in text: SNCA: Ala30Pro
PubMed Link: 36879366
Variant Present in the following documents:
  • Main text
  • BRB3-13-e2950.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: A30P
PubMed Link: 36875645
Variant Present in the following documents:
  • Main text
  • fnins-17-1137893.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: A30P
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: A30P
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: A30P
PubMed Link: 36611984
Variant Present in the following documents:
  • Main text
  • cells-12-00191.pdf
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Ubiquilin-2 regulates pathological alpha-synuclein.

Scientific Reports
Sandoval-Pistorius, Stephanie S SS; Gerson, Julia E JE; Liggans, Nyjerus N; Ryou, Jaimie H JH; Oak, Kulin K; Li, Xingli X; Negron-Rios, Keyshla Y KY; Fischer, Svetlana S; Barsh, Henry H; Crowley, Emily V EV; Skinner, Mary E ME; Sharkey, Lisa M LM; Barmada, Sami J SJ; Paulson, Henry L HL
Publication Date: 2023-01-06

Variant appearance in text: SNCA: A30P
PubMed Link: 36609661
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_26899.pdf
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Temporal model for central sensitization: A hypothesis for mechanism and treatment using systemic manual therapy, a focused review.

Methodsx
Halili, Adi A
Publication Date: 2023

Variant appearance in text: SNCA: A30P
PubMed Link: 36570602
Variant Present in the following documents:
  • Main text
  • main.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: Ala30Pro
PubMed Link: 36555748
Variant Present in the following documents:
  • ijms-23-16096.pdf
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The Role of Membrane Affinity and Binding Modes in Alpha-Synuclein Regulation of Vesicle Release and Trafficking.

Biomolecules
Das, Tapojyoti T; Ramezani, Meraj M; Snead, David D; Follmer, Cristian C; Chung, Peter P; Lee, Ka Yee KY; Holowka, David A DA; Baird, Barbara A BA; Eliezer, David D
Publication Date: 2022-12-05

Variant appearance in text: NACP: A30P
PubMed Link: 36551244
Variant Present in the following documents:
  • biomolecules-12-01816.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: A30P
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: A30P
PubMed Link: 36502340
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd223380.pdf
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Nuclear localization of alpha-synuclein affects the cognitive and motor behavior of mice by inducing DNA damage and abnormal cell cycle of hippocampal neurons.

Frontiers In Molecular Neuroscience
Pan, Yue Y; Zong, Qinglan Q; Li, Guoxiang G; Wu, Zhengcun Z; Du, Tingfu T; Huang, Zhangqiong Z; Zhang, Ying Y; Ma, Kaili K
Publication Date: 2022

Variant appearance in text: SNCA: A30P
PubMed Link: 36438187
Variant Present in the following documents:
  • Main text
  • fnmol-15-1015881.pdf
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Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.

Science Advances
Cheng, Fubo F; Zheng, Wenxu W; Liu, Chang C; Barbuti, Peter Antony PA; Yu-Taeger, Libo L; Casadei, Nicolas N; Huebener-Schmid, Jeannette J; Admard, Jakob J; Boldt, Karsten K; Junger, Katrin K; Ueffing, Marius M; Houlden, Henry H; Sharma, Manu M; Kruger, Rejko R; Grundmann-Hauser, Kathrin K; Ott, Thomas T; Riess, Olaf O
Publication Date: 2022-11-25

Variant appearance in text: SNCA: Ala30Pro
PubMed Link: 36417521
Variant Present in the following documents:
  • sciadv.abq6324.pdf
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Common signatures of differential microRNA expression in Parkinson's and Alzheimer's disease brains.

Brain Communications
Dobricic, Valerija V; Schilling, Marcel M; Farkas, Ildiko I; Gveric, Djordje O DO; Ohlei, Olena O; Schulz, Jessica J; Middleton, Lefkos L; Gentleman, Steve M SM; Parkkinen, Laura L; Bertram, Lars L; Lill, Christina M CM
Publication Date: 2022

Variant appearance in text: SNCA: A30P
PubMed Link: 36382223
Variant Present in the following documents:
  • Main text
  • fcac274.pdf
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Autophagy and Its Association with Genetic Mutations in Parkinson Disease.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Erekat, Nour S NS
Publication Date: 2022-11-11

Variant appearance in text: SNCA: A30P
PubMed Link: 36366737
Variant Present in the following documents:
  • Main text
  • medscimonit-28-e938519.pdf
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Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Genes
Kim, Jeffrey J; Daadi, Etienne W EW; Oh, Thomas T; Daadi, Elyas S ES; Daadi, Marcel M MM
Publication Date: 2022-10-25

Variant appearance in text: SNCA: A30P
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
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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: A30P
PubMed Link: 36289910
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02649.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: A30P
PubMed Link: 36111783
Variant Present in the following documents:
  • Main text
  • BST-50-1303.pdf
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Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots.

Movement Disorders : Official Journal Of The Movement Disorder Society
Lorenzo-Betancor, Oswaldo O; Galosi, Livio L; Bonfili, Laura L; Eleuteri, Anna Maria AM; Cecarini, Valentina V; Verin, Ranieri R; Dini, Fabrizio F; Attili, Anna-Rita AR; Berardi, Sara S; Biagini, Lucia L; Robino, Patrizia P; Stella, Maria Cristina MC; Yearout, Dora D; Dorschner, Michael O MO; Tsuang, Debby W DW; Rossi, Giacomo G; Zabetian, Cyrus P CP
Publication Date: 2022-09-10

Variant appearance in text: SNCA: A30P
PubMed Link: 36086934
Variant Present in the following documents:
  • Main text
  • MDS-37-2345.pdf
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Lysosomal Pathogenesis of Parkinson's Disease: Insights From LRRK2 and GBA1 Rodent Models.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Volta, Mattia M
Publication Date: 2022-09-09

Variant appearance in text: SNCA: A30P
PubMed Link: 36085537
Variant Present in the following documents:
  • Main text
  • 13311_2022_Article_1290.pdf
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Alpha-synuclein Immunization Strategies for Synucleinopathies in Clinical Studies: A Biological Perspective.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Knecht, Luisa L; Folke, Jonas J; Dodel, Richard R; Ross, J Alexander JA; Albus, Alexandra A
Publication Date: 2022-09

Variant appearance in text: SNCA: A30P
PubMed Link: 36083395
Variant Present in the following documents:
  • Main text
  • 13311_2022_Article_1288.pdf
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