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Select item 77816011.

A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations

Jone Paesmans, Ella Martin, Babette Deckers, Marjolijn Berghmans, Ritika Sethi, Yannick Loeys, Els Pardon, Jan Steyaert, Patrik Verstreken, Christian Galicia, Wim Versées

eLife. 2020; 9: e64922. Published online 2020 Dec 22. doi: 10.7554/eLife.64922

PMCID:: PMC7781601

Abstract Article PDF–5.2M

Select item 72686312.

The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer’s disease

Kunie Ando, Marième Ndjim, Sabrina Turbant, Gaëlle Fontaine, Gustavo Pregoni, Luce Dauphinot, Zehra Yilmaz, Valérie Suain, Salwa Mansour, Michèle Authelet, Robert De Dekker, Karelle Leroy, Benoît Delatour, Brain Bank NeuroCEB Neuropathology Network, Charles Duyckaerts, Marie-Claude Potier, Jean-Pierre Brion

Acta Neuropathol Commun. 2020; 8: 79. Published online 2020 Jun 3. doi: 10.1186/s40478-020-00954-1

PMCID:: PMC7268631

Abstract Article PDF–8.0M

Select item 58412783.

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

Dominga Fasano, Silvia Parisi, Giovanna Maria Pierantoni, Anna De Rosa, Marina Picillo, Giuseppina Amodio, Maria Teresa Pellecchia, Paolo Barone, Ornella Moltedo, Vincenzo Bonifati, Giuseppe De Michele, Lucio Nitsch, Paolo Remondelli, Chiara Criscuolo, Simona Paladino

Cell Death Dis. 2018 Mar; 9(3): 385. Published online 2018 Mar 7. doi: 10.1038/s41419-018-0410-7

PMCID:: PMC5841278

Abstract Article PDF–4.5M

Select item 49953624.

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Katia Hardies, Yiying Cai, Claude Jardel, Anna C. Jansen, Mian Cao, Patrick May, Tania Djémié, Caroline Hachon Le Camus, Kathelijn Keymolen, Tine Deconinck, Vikas Bhambhani, Catherine Long, Samin A. Sajan, Katherine L. Helbig, AR working group of the EuroEPINOMICS RES Consortium, Arvid Suls, Rudi Balling, Ingo Helbig, Peter De Jonghe, Christel Depienne, Pietro De Camilli, Sarah Weckhuysen

Brain. 2016 Sep; 139(9): 2420–2430. Published online 2016 Jul 19. doi: 10.1093/brain/aww180

PMCID:: PMC4995362

Abstract Article PDF–558K

Select item 37904615.

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures

Catharine E. Krebs, Siamak Karkheiran, James C. Powell, Mian Cao, Vladimir Makarov, Hossein Darvish, Gilbert Di Paolo, Ruth H. Walker, Gholam Ali Shahidi, Joseph D. Buxbaum, Pietro De Camilli, Zhenyu Yue, Coro Paisán-Ruiz

Hum Mutat. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Hum Mutat. 2013 Sep; 34(9): 1200–1207. Published online 2013 Jul 19. doi: 10.1002/humu.22372

PMCID:: PMC3790461

Abstract Article PDF–785K

Select item 16938686.

Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages

Rushika M. Perera, Roberto Zoncu, Louise Lucast, Pietro De Camilli, Derek Toomre

Proc Natl Acad Sci U S A. 2006 Dec 19; 103(51): 19332–19337. Published online 2006 Dec 8. doi: 10.1073/pnas.0609795104

PMCID:: PMC1693868

Abstract Article PDF–1.5M

Select item 60408107.

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

Andre M. Miranda, Mathieu Herman, Rong Cheng, Eden Nahmani, Geoffrey Barrett, Elizabeta Micevska, Gaelle Fontaine, Marie-Claude Potier, Elizabeth Head, Frederick A. Schmitt, Ira T. Lott, Ivonne Z. Jiménez-Velázquez, Stylianos E. Antonarakis, Gilbert Di Paolo, Joseph H. Lee, S. Abid Hussaini, Catherine Marquer

Cell Rep. Author manuscript; available in PMC 2018 Jul 11.

Published in final edited form as: Cell Rep. 2018 Jun 5; 23(10): 2967–2975. doi: 10.1016/j.celrep.2018.05.011

PMCID:: PMC6040810

Abstract Article PDF–1011K

Select item 53404208.

Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons

Mian Cao, Yumei Wu, Ghazaleh Ashrafi, Amber J. McCartney, Heather Wheeler, Eric A. Bushong, Daniela Boassa, Mark H. Ellisman, Timothy A. Ryan, Pietro De Camilli

Neuron. Author manuscript; available in PMC 2018 Feb 22.

Published in final edited form as: Neuron. 2017 Feb 22; 93(4): 882–896.e5. doi: 10.1016/j.neuron.2017.01.019

PMCID:: PMC5340420

Abstract Article PDF–3.4M

Select item 43928179.

Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer disease

Sarah B. Martin, Amy L.S. Dowling, Joann Lianekhammy, Ira T. Lott, Eric Doran, M. Paul Murphy, Tina L. Beckett, Frederick A. Schmitt, Elizabeth Head

J Alzheimers Dis. Author manuscript; available in PMC 2015 Apr 10.

Published in final edited form as: J Alzheimers Dis. 2014; 42(3): 767–775. doi: 10.3233/JAD-140795

PMCID:: PMC4392817

Abstract Article PDF–531K

Select item 371172010.

Reduction of Synaptojanin 1 Ameliorates Synaptic and Behavioral Impairments in a Mouse Model of Alzheimer's Disease

Laura Beth J. McIntire, Diego E. Berman, Jennifer Myaeng, Agnieszka Staniszewski, Ottavio Arancio, Gilbert Di Paolo, Tae-Wan Kim

J Neurosci. 2012 Oct 31; 32(44): 15271–15276. doi: 10.1523/JNEUROSCI.2034-12.2012

PMCID:: PMC3711720

Abstract Article PDF–894K

Select item 718379011.

TGFβ receptor endocytosis and Smad signaling require synaptojanin1, PI3K–C2α-, and INPP4B-mediated phosphoinositide conversions

Sho Aki, Kazuaki Yoshioka, Noriko Takuwa, Yoh Takuwa

Mol Biol Cell. 2020 Mar 1; 31(5): 360–372. doi: 10.1091/mbc.E19-11-0662

PMCID:: PMC7183790

Abstract Article PDF–3.6M

Select item 418177312.

Synaptojanin 1 Mutation in Parkinson's Disease Brings Further Insight into the Neuropathological Mechanisms

Valérie Drouet, Suzanne Lesage

Biomed Res Int. 2014; 2014: 289728. Published online 2014 Sep 16. doi: 10.1155/2014/289728

PMCID:: PMC4181773

Abstract Article PDF–807K

Select item 338438213.

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

Jack-Christophe Cossec, Jérémie Lavaur, Diego E. Berman, Isabelle Rivals, Alexander Hoischen, Samantha Stora, Clémentine Ripoll, Clotilde Mircher, Yann Grattau, Jean-Christophe OlivoMarin, Fabrice de Chaumont, Magalie Lecourtois, Stylianos E. Antonarakis, Joris A. Veltman, Jean M. Delabar, Charles Duyckaerts, Gilbert Di Paolo, Marie-Claude Potier

Hum Mol Genet. 2012 Jul 15; 21(14): 3156–3172. Published online 2012 Apr 17. doi: 10.1093/hmg/dds142

PMCID:: PMC3384382

Abstract Article PDF–584K

Select item 245374814.

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

Sergey V. Voronov, Samuel G. Frere, Silvia Giovedi, Elizabeth A. Pollina, Christelle Borel, Hong Zhang, Cecilia Schmidt, Ellen C. Akeson, Markus R. Wenk, Laurent Cimasoni, Ottavio Arancio, Muriel T. Davisson, Stylianos E. Antonarakis, Katheleen Gardiner, Pietro De Camilli, Gilbert Di Paolo

Proc Natl Acad Sci U S A. 2008 Jul 8; 105(27): 9415–9420. Published online 2008 Jun 30. doi: 10.1073/pnas.0803756105

PMCID:: PMC2453748

Abstract Article PDF–735K

Select item 227644015.

ROOT HAIR DEFECTIVE4 Encodes a Phosphatidylinositol-4-Phosphate Phosphatase Required for Proper Root Hair Development in Arabidopsis thaliana

Julie M. Thole, Joop E.M. Vermeer, Yanling Zhang, Theodorus W.J. Gadella, Jr., Erik Nielsen

Plant Cell. 2008 Feb; 20(2): 381–395. doi: 10.1105/tpc.107.054304

PMCID:: PMC2276440

Abstract Article PDF–1.8M

Select item 381479916.

Reduction of Synaptojanin 1 Accelerates Aβ Clearance and Attenuates Cognitive Deterioration in an Alzheimer Mouse Model

Li Zhu, Minghao Zhong, Jiaying Zhao, Hannah Rhee, Ina Caesar, Elysse M. Knight, Laura Volpicelli-Daley, Victor Bustos, William Netzer, Lijuan Liu, Louise Lucast, Michelle E. Ehrlich, Nikolaos K. Robakis, Samuel E. Gandy, Dongming Cai

J Biol Chem. 2013 Nov 1; 288(44): 32050–32063. Published online 2013 Sep 19. doi: 10.1074/jbc.M113.504365