SNCA c.152G>A ;(p.G51D)

Variant ID: 4-90749305-C-T

NM_000345.3(SNCA):c.152G>A;(p.G51D)

This variant was identified in 338 publications

View GRCh38 version.




Publications:


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: G51D
PubMed Link: 37214999
Variant Present in the following documents:
  • nihpp-2023.05.06.539715v1.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: G51D
PubMed Link: 37194005
Variant Present in the following documents:
  • Main text
  • 40824_2023_Article_381.pdf
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Synucleinopathies Take Their Toll: Are TLRs a Way to Go?

Cells
Mazzotta, Gabriella M GM; Ceccato, Nadia N; Conte, Carmela C
Publication Date: 2023-04-24

Variant appearance in text: SNCA: G51D
PubMed Link: 37174631
Variant Present in the following documents:
  • cells-12-01231.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: G51D
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: G51D
PubMed Link: 37087484
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5807.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: G51D
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: G51D
PubMed Link: 36976861
Variant Present in the following documents:
  • Main text
  • js2c00339.pdf
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Protein kinase R dependent phosphorylation of α-synuclein regulates its membrane binding and aggregation.

Pnas Nexus
Reimer, Lasse L; Gram, Hjalte H; Jensen, Nanna Møller NM; Betzer, Cristine C; Yang, Li L; Jin, Lorrain L; Shi, Min M; Boudeffa, Driss D; Fusco, Giuliana G; De Simone, Alfonso A; Kirik, Deniz D; Lashuel, Hilal A HA; Zhang, Jing J; Jensen, Poul Henning PH
Publication Date: 2022-11

Variant appearance in text: SNCA: G51D
PubMed Link: 36712380
Variant Present in the following documents:
  • pgac259.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: G51D
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: G51D
PubMed Link: 36644543
Variant Present in the following documents:
  • bi-12-487.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: Gly51Asp
PubMed Link: 36555748
Variant Present in the following documents:
  • ijms-23-16096.pdf
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Prominent astrocytic alpha-synuclein pathology with unique post-translational modification signatures unveiled across Lewy body disorders.

Acta Neuropathologica Communications
Altay, Melek Firat MF; Liu, Alan King Lun AKL; Holton, Janice L JL; Parkkinen, Laura L; Lashuel, Hilal A HA
Publication Date: 2022-11-12

Variant appearance in text: SNCA: G51D
PubMed Link: 36371251
Variant Present in the following documents:
  • Main text
  • 40478_2022_1468_MOESM2_ESM.pdf
  • 40478_2022_Article_1468.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: G51D
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.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: G51D
PubMed Link: 36289910
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02649.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: G51D
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: G51D
PubMed Link: 36111783
Variant Present in the following documents:
  • Main text
  • BST-50-1303.pdf
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Structures of α-synuclein filaments from human brains with Lewy pathology.

Nature
Yang, Yang Y; Shi, Yang Y; Schweighauser, Manuel M; Zhang, Xianjun X; Kotecha, Abhay A; Murzin, Alexey G AG; Garringer, Holly J HJ; Cullinane, Patrick W PW; Saito, Yuko Y; Foroud, Tatiana T; Warner, Thomas T TT; Hasegawa, Kazuko K; Vidal, Ruben R; Murayama, Shigeo S; Revesz, Tamas T; Ghetti, Bernardino B; Hasegawa, Masato M; Lashley, Tammaryn T; Scheres, Sjors H W SHW; Goedert, Michel M
Publication Date: 2022-10

Variant appearance in text: SNCA: G51D
PubMed Link: 36108674
Variant Present in the following documents:
  • EMS154603.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: NACP: G51D
PubMed Link: 36042314
Variant Present in the following documents:
  • 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: G51D
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: G51D
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: G51D
PubMed Link: 35894540
Variant Present in the following documents:
  • Main text
  • MDS-37-2075-s001.pdf
  • MDS-37-2075.pdf
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Nuclear alpha-synuclein is present in the human brain and is modified in dementia with Lewy bodies.

Acta Neuropathologica Communications
Koss, David J DJ; Erskine, Daniel D; Porter, Andrew A; Palmoski, Pawel P; Menon, Hariharan H; Todd, Olivia G J OGJ; Leite, Marta M; Attems, Johannes J; Outeiro, Tiago F TF
Publication Date: 2022-07-06

Variant appearance in text: SNCA: G51D
PubMed Link: 35794636
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1403.pdf
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Ca2+ Dyshomeostasis Links Risk Factors to Neurodegeneration in Parkinson's Disease.

Frontiers In Cellular Neuroscience
Xu, Jianjun J; Minobe, Etsuko E; Kameyama, Masaki M
Publication Date: 2022

Variant appearance in text: SNCA: G51D
PubMed Link: 35496903
Variant Present in the following documents:
  • Main text
  • fncel-16-867385.pdf
View BVdb publication page



A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity.

Science Advances
Kumar, Senthil T ST; Mahul-Mellier, Anne-Laure AL; Hegde, Ramanath Narayana RN; Rivière, Gwladys G; Moons, Rani R; Ibáñez de Opakua, Alain A; Magalhães, Pedro P; Rostami, Iman I; Donzelli, Sonia S; Sobott, Frank F; Zweckstetter, Markus M; Lashuel, Hilal A HA
Publication Date: 2022-04-29

Variant appearance in text: SNCA: G51D
PubMed Link: 35486726
Variant Present in the following documents:
  • Main text
  • sciadv.abn0044.pdf
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α-Synuclein at the Presynaptic Axon Terminal as a Double-Edged Sword.

Biomolecules
Tan, Li Yang LY; Tang, Kwan Hou KH; Lim, Lynette Yu You LYY; Ong, Jia Xin JX; Park, Hyokeun H; Jung, Sangyong S
Publication Date: 2022-03-27

Variant appearance in text: SNCA: G51D
PubMed Link: 35454096
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00507.pdf
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Proteomics Challenges for the Assessment of Synuclein Proteoforms as Clinical Biomarkers in Parkinson's Disease.

Frontiers In Aging Neuroscience
Pons, Marie-Laure ML; Loftus, Neil N; Vialaret, Jerome J; Moreau, Stephane S; Lehmann, Sylvain S; Hirtz, Christophe C
Publication Date: 2022

Variant appearance in text: SNCA: G51D
PubMed Link: 35431896
Variant Present in the following documents:
  • Main text
  • fnagi-14-818606.pdf
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Amyloid Cross-Seeding: Mechanism, Implication, and Inhibition.

Molecules (Basel, Switzerland)
Subedi, Sushma S; Sasidharan, Santanu S; Nag, Niharika N; Saudagar, Prakash P; Tripathi, Timir T
Publication Date: 2022-03-08

Variant appearance in text: SNCA: G51D
PubMed Link: 35335141
Variant Present in the following documents:
  • Main text
  • molecules-27-01776.pdf
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Ferritinophagy and α-Synuclein: Pharmacological Targeting of Autophagy to Restore Iron Regulation in Parkinson's Disease.

International Journal Of Molecular Sciences
Boag, Matthew K MK; Roberts, Angus A; Uversky, Vladimir N VN; Ma, Linlin L; Richardson, Des R DR; Pountney, Dean L DL
Publication Date: 2022-02-21

Variant appearance in text: PARK1: G51D
PubMed Link: 35216492
Variant Present in the following documents:
  • Main text
  • ijms-23-02378.pdf
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Constitutive nuclear accumulation of endogenous alpha-synuclein in mice causes motor impairment and cortical dysfunction, independent of protein aggregation.

Human Molecular Genetics
Geertsma, Haley M HM; Suk, Terry R TR; Ricke, Konrad M KM; Horsthuis, Kyra K; Parmasad, Jean-Louis A JA; Fisk, Zoe A ZA; Callaghan, Steve M SM; Rousseaux, Maxime W C MWC
Publication Date: 2022-10-28

Variant appearance in text: SNCA: G51D
PubMed Link: 35179202
Variant Present in the following documents:
  • ddac035.pdf
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Roles of α-Synuclein and Disease-Associated Factors in Drosophila Models of Parkinson's Disease.

International Journal Of Molecular Sciences
Suzuki, Mari M; Sango, Kazunori K; Nagai, Yoshitaka Y
Publication Date: 2022-01-28

Variant appearance in text: SNCA: G51D
PubMed Link: 35163450
Variant Present in the following documents:
  • Main text
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Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations.

Acta Neuropathologica
de Boni, Laura L; Watson, Aurelia Hays AH; Zaccagnini, Ludovica L; Wallis, Amber A; Zhelcheska, Kristina K; Kim, Nora N; Sanderson, John J; Jiang, Haiyang H; Martin, Elodie E; Cantlon, Adam A; Rovere, Matteo M; Liu, Lei L; Sylvester, Marc M; Lashley, Tammaryn T; Dettmer, Ulf U; Jaunmuktane, Zane Z; Bartels, Tim T
Publication Date: 2022-04

Variant appearance in text: SNCA: G51D
PubMed Link: 35141810
Variant Present in the following documents:
  • Main text
  • 401_2022_Article_2406.pdf
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Novel engineered nanobodies specific for N-terminal region of alpha-synuclein recognize Lewy-body pathology and inhibit in-vitro seeded aggregation and toxicity.

The Febs Journal
Hmila, Issam I; Vaikath, Nishant N NN; Majbour, Nour K NK; Erskine, Daniel D; Sudhakaran, Indulekha P IP; Gupta, Vijay V; Ghanem, Simona S SS; Islam, Zeyaul Z; Emara, Mohamed M MM; Abdesselem, Houari B HB; Kolatkar, Prasanna R PR; Achappa, Devaya K DK; Vinardell, Tatiana T; El-Agnaf, Omar M A OMA
Publication Date: 2022-08

Variant appearance in text: SNCA: G51D
PubMed Link: 35090199
Variant Present in the following documents:
  • FEBS-289-4657.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: G51D
PubMed Link: 35053188
Variant Present in the following documents:
  • 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: G51D
PubMed Link: 35053188
Variant Present in the following documents:
  • biomolecules-12-00040.pdf
View BVdb publication page



Cognitive Impairment in Genetic Parkinson's Disease.

Parkinson'S Disease
Planas-Ballvé, A A; Vilas, D D
Publication Date: 2021

Variant appearance in text: SNCA: G51D
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuropathology and molecular diagnosis of Synucleinopathies.

Molecular Neurodegeneration
Koga, Shunsuke S; Sekiya, Hiroaki H; Kondru, Naveen N; Ross, Owen A OA; Dickson, Dennis W DW
Publication Date: 2021-12-18

Variant appearance in text: SNCA: G51D
PubMed Link: 34922583
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuropathology and molecular diagnosis of Synucleinopathies.

Molecular Neurodegeneration
Koga, Shunsuke S; Sekiya, Hiroaki H; Kondru, Naveen N; Ross, Owen A OA; Dickson, Dennis W DW
Publication Date: 2021-12-18

Variant appearance in text: SNCA: G51D
PubMed Link: 34922583
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alpha-synuclein as a biomarker in Parkinson's disease: focus on neural derived extracelluar vesicles.

Neural Regeneration Research
Agliardi, Cristina C; Guerini, Franca R FR; Meloni, Mario M; Clerici, Mario M
Publication Date: 2022-07

Variant appearance in text: SNCA: G51D
PubMed Link: 34916434
Variant Present in the following documents:
  • Main text
  • NRR-17-1503.pdf
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Alpha-synuclein as a biomarker in Parkinson's disease: focus on neural derived extracelluar vesicles.

Neural Regeneration Research
Agliardi, Cristina C; Guerini, Franca R FR; Meloni, Mario M; Clerici, Mario M
Publication Date: 2022-07

Variant appearance in text: SNCA: G51D
PubMed Link: 34916434
Variant Present in the following documents:
  • Main text
  • NRR-17-1503.pdf
View BVdb publication page



Pharmacological Modulation of Nrf2/HO-1 Signaling Pathway as a Therapeutic Target of Parkinson's Disease.

Frontiers In Pharmacology
Wang, Yumin Y; Gao, Luyan L; Chen, Jichao J; Li, Qiang Q; Huo, Liang L; Wang, Yanchao Y; Wang, Hongquan H; Du, Jichen J
Publication Date: 2021

Variant appearance in text: SNCA: G51D
PubMed Link: 34887759
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alpha-Synuclein and Cognitive Decline in Parkinson Disease.

Life (Basel, Switzerland)
Fan, Tian-Sin TS; Liu, Sam Chi-Hao SC; Wu, Ruey-Meei RM
Publication Date: 2021-11-16

Variant appearance in text: SNCA: G51D
PubMed Link: 34833115
Variant Present in the following documents:
  • Main text
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Examining the Toxicity of α-Synuclein in Neurodegenerative Disorders.

Life (Basel, Switzerland)
Shan, Frank Y FY; Fung, Kar-Ming KM; Zieneldien, Tarek T; Kim, Janice J; Cao, Chuanhai C; Huang, Jason H JH
Publication Date: 2021-10-22

Variant appearance in text: SNCA: G51D
PubMed Link: 34833002
Variant Present in the following documents:
  • Main text
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Association between Sleep, Alzheimer's, and Parkinson's Disease.

Biology
Matsumoto, Sumire S; Tsunematsu, Tomomi T
Publication Date: 2021-11-03

Variant appearance in text: SNCA: G51D
PubMed Link: 34827122
Variant Present in the following documents:
  • Main text
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