Publications:

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Synaptojanin1 modifies endolysosomal parameters in cultured ventral midbrain neurons.

Eneuro

Zhu, Xinyu X; Prakash, Sanjana Surya SS; McAuliffe, Geoffrey G; Pan, Ping-Yue PY

Publication Date: 2023-04-17

Variant appearance in text: SYNJ1: R459P

PubMed Link: 37072173

Variant Present in the following documents:

• Main text
• ENEURO.0426-22.2023.pdf

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Neuroinflammation in Parkinson's Disease: From Gene to Clinic: A Systematic Review.

International Journal Of Molecular Sciences

Castillo-Rangel, Carlos C; Marin, Gerardo G; Hernández-Contreras, Karla Aketzalli KA; Vichi-Ramírez, Micheel Merari MM; Zarate-Calderon, Cristofer C; Torres-Pineda, Osvaldo O; Diaz-Chiguer, Dylan L DL; De la Mora González, David D; Gómez Apo, Erick E; Teco-Cortes, Javier Alejandro JA; Santos-Paez, Flor de María FM; Coello-Torres, María de Los Ángeles MLÁ; Baldoncini, Matías M; Reyes Soto, Gervith G; Aranda-Abreu, Gonzalo Emiliano GE; García, Luis I LI

Publication Date: 2023-03-17

Variant appearance in text: PARK20: R459P

PubMed Link: 36982866

Variant Present in the following documents:

• ijms-24-05792.pdf

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Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson's disease-related fibril polymorphism.

Acta Neuropathologica

Choong, Chi-Jing CJ; Aguirre, César C; Kakuda, Keita K; Beck, Goichi G; Nakanishi, Hiroki H; Kimura, Yasuyoshi Y; Shimma, Shuichi S; Nabekura, Kei K; Hideshima, Makoto M; Doi, Junko J; Yamaguchi, Keiichi K; Nakajima, Kichitaro K; Wadayama, Tomoya T; Hayakawa, Hideki H; Baba, Kousuke K; Ogawa, Kotaro K; Takeuchi, Toshihide T; Badawy, Shaymaa Mohamed Mohamed SMM; Murayama, Shigeo S; Nagano, Seiichi S; Goto, Yuji Y; Miyanoiri, Yohei Y; Nagai, Yoshitaka Y; Mochizuki, Hideki H; Ikenaka, Kensuke K

Publication Date: 2023-03-20

Variant appearance in text: SYNJ1: R459P

PubMed Link: 36939875

Variant Present in the following documents:

• Main text
• 401_2023_Article_2555.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SYNJ1: 1376G>C; Arg459Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Cocaine-regulated trafficking of dopamine transporters in cultured neurons revealed by a pH sensitive reporter.

Iscience

Saenz, Jacqueline J; Yao, Oscar O; Khezerlou, Elnaz E; Aggarwal, Meha M; Zhou, Xiaofeng X; Barker, David J DJ; DiCicco-Bloom, Emanuel E; Pan, Ping-Yue PY

Publication Date: 2023-01-20

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 36594015

Variant Present in the following documents:

• main.pdf

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A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.

Molecular Genetics & Genomic Medicine

Maj, Mary M; Taylor, Christie L CL; Landau, Kevin K; Toriello, Helga V HV; Li, Dong D; Bhoj, Elizabeth J EJ; Hakonarson, Hakon H; Nelson, Beverly B; Gluschitz, Sarah S; Walker, Ruth H RH; Sobering, Andrew K AK

Publication Date: 2022-09-23

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 36148638

Variant Present in the following documents:

• MGG3-11-e2064-s001.xlsx, sheet 1

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Mini-review: Synaptojanin 1 and its implications in membrane trafficking.

Neuroscience Letters

Choudhry, Hassaam H; Aggarwal, Meha M; Pan, Ping-Yue PY

Publication Date: 2021-11-20

Variant appearance in text: SYNJ1: R459P

PubMed Link: 34637856

Variant Present in the following documents:

• Main text

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A Practical Approach to Early-Onset Parkinsonism.

Journal Of Parkinson'S Disease

Riboldi, Giulietta M GM; Frattini, Emanuele E; Monfrini, Edoardo E; Frucht, Steven J SJ; Di Fonzo, Alessio A

Publication Date: 2022

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 34569973

Variant Present in the following documents:

• jpd-12-jpd212815.pdf

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An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.

Journal Of Parkinson'S Disease

Schechter, Meir M; Sharon, Ronit R

Publication Date: 2021

Variant appearance in text: PARK20: Arg459Pro

PubMed Link: 34151859

Variant Present in the following documents:

• Main text

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Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Frontiers In Integrative Neuroscience

Zou, Li L; Tian, Ye Y; Zhang, Zhentao Z

Publication Date: 2021

Variant appearance in text: SYNJ1: R459P

PubMed Link: 34093144

Variant Present in the following documents:

• Main text
• fnint-15-619160.pdf

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Molecular Mechanisms Underlying Synaptic and Axon Degeneration in Parkinson's Disease.

Frontiers In Cellular Neuroscience

Gcwensa, Nolwazi Z NZ; Russell, Drèson L DL; Cowell, Rita M RM; Volpicelli-Daley, Laura A LA

Publication Date: 2021

Variant appearance in text: SYNJ1: R459P

PubMed Link: 33737866

Variant Present in the following documents:

• Main text
• fncel-15-626128.pdf

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α-Synuclein facilitates endocytosis by elevating the steady-state levels of phosphatidylinositol 4,5-bisphosphate.

The Journal Of Biological Chemistry

Schechter, Meir M; Atias, Merav M; Abd Elhadi, Suaad S; Davidi, Dana D; Gitler, Daniel D; Sharon, Ronit R

Publication Date: 2020-12-25

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 33087443

Variant Present in the following documents:

• main.pdf

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Genomewide Association Study of Platelet Reactivity and Cardiovascular Response in Patients Treated With Clopidogrel: A Study by the International Clopidogrel Pharmacogenomics Consortium.

Clinical Pharmacology And Therapeutics

Verma, Shefali Setia SS; Bergmeijer, Thomas O TO; Gong, Li L; Reny, Jean-Luc JL; Lewis, Joshua P JP; Mitchell, Braxton D BD; Alexopoulos, Dimitrios D; Aradi, Daniel D; Altman, Russ B RB; Bliden, Kevin K; Bradford, Yuki Y; Campo, Gianluca G; Chang, Kiyuk K; Cleator, John H JH; Déry, Jean-Pierre JP; Dridi, Nadia P NP; Fernandez-Cadenas, Israel I; Fontana, Pierre P; Gawaz, Meinrad M; Geisler, Tobias T; Gensini, Gian Franco GF; Giusti, Betti B; Gurbel, Paul A PA; Hochholzer, Willibald W; Holmvang, Lene L; Kim, Eun-Young EY; Kim, Ho-Sook HS; Marcucci, Rossella R; Montaner, Joan J; Backman, Joshua D JD; Pakyz, Ruth E RE; Roden, Dan M DM; Schaeffeler, Elke E; Schwab, Matthias M; Shin, Jae Gook JG; Siller-Matula, Jolanta M JM; Ten Berg, Jurriën M JM; Trenk, Dietmar D; Valgimigli, Marco M; Wallace, John J; Wen, Ming-Shien MS; Kubo, Michiaki M; Lee, Ming Ta Michael MTM; Whaley, Ryan R; Winter, Stefan S; Klein, Teri E TE; Shuldiner, Alan R AR; Ritchie, Marylyn D MD; ,

Publication Date: 2020-11

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 32472697

Variant Present in the following documents:

• CPT-108-1067.pdf

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Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Acta Neuropathologica Communications

Smolders, Stefanie S; Van Broeckhoven, Christine C

Publication Date: 2020-05-06

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 32375870

Variant Present in the following documents:

• Main text
• 40478_2020_Article_935.pdf

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Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.

Human Molecular Genetics

Pan, Ping-Yue PY; Sheehan, Patricia P; Wang, Qian Q; Zhu, Xinyu X; Zhang, Yuanxi Y; Choi, Insup I; Li, Xianting X; Saenz, Jacqueline J; Zhu, Justin J; Wang, Jing J; El Gaamouch, Farida F; Zhu, Li L; Cai, Dongming D; Yue, Zhenyu Z

Publication Date: 2020-08-11

Variant appearance in text: SYNJ1: R459P

PubMed Link: 32356558

Variant Present in the following documents:

• Main text

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Endosomal sorting pathways in the pathogenesis of Parkinson's disease.

Progress In Brain Research

Cunningham, Lindsey A LA; Moore, Darren J DJ

Publication Date: 2020

Variant appearance in text: SYNJ1: R459P

PubMed Link: 32247367

Variant Present in the following documents:

• Main text

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Vesicular Dysfunction and the Pathogenesis of Parkinson's Disease: Clues From Genetic Studies.

Frontiers In Neuroscience

Ebanks, Kirsten K; Lewis, Patrick A PA; Bandopadhyay, Rina R

Publication Date: 2019

Variant appearance in text: SYNJ1: R459P

PubMed Link: 31969802

Variant Present in the following documents:

• Main text
• fnins-13-01381.pdf

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PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts.

Frontiers In Neuroscience

Amodio, Giuseppina G; Moltedo, Ornella O; Fasano, Dominga D; Zerillo, Lucrezia L; Oliveti, Marco M; Di Pietro, Paola P; Faraonio, Raffaella R; Barone, Paolo P; Pellecchia, Maria Teresa MT; De Rosa, Anna A; De Michele, Giuseppe G; Polishchuk, Elena E; Polishchuk, Roman R; Bonifati, Vincenzo V; Nitsch, Lucio L; Pierantoni, Giovanna Maria GM; Renna, Maurizio M; Criscuolo, Chiara C; Paladino, Simona S; Remondelli, Paolo P

Publication Date: 2019

Variant appearance in text: PARK20: R459P

PubMed Link: 31316342

Variant Present in the following documents:

• Main text
• fnins-13-00673.pdf

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Synaptic, Mitochondrial, and Lysosomal Dysfunction in Parkinson's Disease.

Trends In Neurosciences

Nguyen, Maria M; Wong, Yvette C YC; Ysselstein, Daniel D; Severino, Alex A; Krainc, Dimitri D

Publication Date: 2019-02

Variant appearance in text: SYNJ1: R459P

PubMed Link: 30509690

Variant Present in the following documents:

• Main text

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Presynaptic Dysfunction by Familial Factors in Parkinson Disease.

International Neurourology Journal

Lee, Wongyoung W; Koh, Soulmee S; Hwang, Soondo S; Kim, Sung Hyun SH

Publication Date: 2018-10

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 30396260

Variant Present in the following documents:

• inj-1836216-108.pdf

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Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.

Cell Reports

Miranda, Andre M AM; Herman, Mathieu M; Cheng, Rong R; Nahmani, Eden E; Barrett, Geoffrey G; Micevska, Elizabeta E; Fontaine, Gaelle G; Potier, Marie-Claude MC; Head, Elizabeth E; Schmitt, Frederick A FA; Lott, Ira T IT; Jiménez-Velázquez, Ivonne Z IZ; Antonarakis, Stylianos E SE; Di Paolo, Gilbert G; Lee, Joseph H JH; Hussaini, S Abid SA; Marquer, Catherine C

Publication Date: 2018-06-05

Variant appearance in text: SYNJ1: Arg459Pro

PubMed Link: 29874583

Variant Present in the following documents:

• nihms-976402.pdf

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Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.

Cell Death & Disease

Fasano, Dominga D; Parisi, Silvia S; Pierantoni, Giovanna Maria GM; De Rosa, Anna A; Picillo, Marina M; Amodio, Giuseppina G; Pellecchia, Maria Teresa MT; Barone, Paolo P; Moltedo, Ornella O; Bonifati, Vincenzo V; De Michele, Giuseppe G; Nitsch, Lucio L; Remondelli, Paolo P; Criscuolo, Chiara C; Paladino, Simona S

Publication Date: 2018-03-07

Variant appearance in text: PARK20: R459P

PubMed Link: 29515184

Variant Present in the following documents:

• Main text
• 41419_2018_Article_410.pdf

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New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Current Neurology And Neuroscience Reports

Puschmann, Andreas A

Publication Date: 2017-09

Variant appearance in text: SYNJ1: R459P

PubMed Link: 28733970

Variant Present in the following documents:

• Main text

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Autophagy in the presynaptic compartment in health and disease.

The Journal Of Cell Biology

Vijayan, Vinoy V; Verstreken, Patrik P

Publication Date: 2017-07-03

Variant appearance in text: SYNJ1: R459P

PubMed Link: 28515275

Variant Present in the following documents:

• JCB_201611113.pdf

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The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.

The Embo Journal

Vanhauwaert, Roeland R; Kuenen, Sabine S; Masius, Roy R; Bademosi, Adekunle A; Manetsberger, Julia J; Schoovaerts, Nils N; Bounti, Laura L; Gontcharenko, Serguei S; Swerts, Jef J; Vilain, Sven S; Picillo, Marina M; Barone, Paolo P; Munshi, Shashini T ST; de Vrij, Femke Ms FM; Kushner, Steven A SA; Gounko, Natalia V NV; Mandemakers, Wim W; Bonifati, Vincenzo V; Meunier, Frederic A FA; Soukup, Sandra-Fausia SF; Verstreken, Patrik P

Publication Date: 2017-05-15

Variant appearance in text: SYNJ1: R459P

PubMed Link: 28331029

Variant Present in the following documents:

• Main text

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