Publications:

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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
• main.pdf
• mmc10.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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