| 1 | EIEE53, SYNJ1
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| Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
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| Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S.
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| Brain 139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19.
2016
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| 2 | SYNJ1
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| Screening Assay for Small-Molecule Inhibitors of Synaptojanin 1, a Synaptic Phosphoinositide Phosphatase.
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| McIntire LB, Lee KI, Chang-Ileto B, Di Paolo G, Kim TW.
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| J Biomol Screen Biomol Screen. 2013 Nov 1. [Epub ahead of print]
2013
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| 3 | PARK20, SYNJ1
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| The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
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| Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C.
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| Hum Mutat 34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19.
2013
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| 4 | PARK20, SYNJ1
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| Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
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| Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatŕ S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; International Parkinsonism Genetics Network, Oostra BA, Barone P, Wang J, Bonifati V.
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| Hum Mutat 34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6.
2013
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| 5 | SYNJ1
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| Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease.
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| McIntire LB, Berman DE, Myaeng J, Staniszewski A, Arancio O, Di Paolo G, Kim TW.
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| J Neurosci 32(44):15271-6. doi: 10.1523/JNEUROSCI.2034-12.2012.
2012
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| 6 | PACSIN1, PAK7, SYNJ1
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| Identification of neuronal substrates implicates Pak5 in synaptic vesicle trafficking.
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| Strochlic TI, Concilio S, Viaud J, Eberwine RA, Wong LE, Minden A, Turk BE, Plomann M, Peterson JR.
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| Proc Natl Acad Sci U S A 109(11):4116-21. doi: 10.1073/pnas.1116560109. Epub 2012 Feb 27.
2012
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| 7 | SYNJ1, TRI21
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| Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
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| Cossec JC, Lavaur J, Berman DE, Rivals I, Hoischen A, Stora S, Ripoll C, Mircher C, Grattau Y, Olivomarin JC, de Chaumont F, Lecourtois M, Antonarakis SE, Veltman JA, Delabar JM, Duyckaerts C, Di Paolo G, Potier MC.
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| Hum Mol Genet 21(14):3156-72. doi: 10.1093/hmg/dds142. Epub 2012 Apr 17.
2012
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| 8 | DMN1, SH3GL1, SH3GL2, SH3GL3, SYNJ1
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| Role of dynamin, synaptojanin, and endophilin in podocyte foot processes
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| Soda K, Balkin DM, Ferguson SM, Paradise S, Milosevic I, Giovedi S, Volpicelli-Daley L, Tian X, Wu Y, Ma H, Son SH, Zheng R, Moeckel G, Cremona O, Holzman LB, De Camilli P, Ishibe S.
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| J Clin Invest. Dec;122(12):4401-11. doi: 10.1172/JCI65289. Epub 2012 Nov 26 2012
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| 9 | SYNJ1
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| Synaptojanin 1-mediated PI(4,5)P2 hydrolysis is modulated by membrane curvature and facilitates membrane fission.
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| Chang-Ileto B, Frere SG, Chan RB, Voronov SV, Roux A, Di Paolo G.
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| Dev Cell 20(2):206-18. doi: 10.1016/j.devcel.2010.12.008.
2011
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| 10 | SYNJ1
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| Synaptojanin1 is required for temporal fidelity of synaptic transmission in hair cells.
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| Trapani JG, Obholzer N, Mo W, Brockerhoff SE, Nicolson T.
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| PLoS Genet 5(5):e1000480. Epub 2009 May 8.
2009
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| 11 | SYNJ1
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| Synaptojanin-1 plays a key role in astrogliogenesis: possible relevance for Down's syndrome.
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| Herrera F, Chen Q, Fischer WH, Maher P, Schubert DR.
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| Cell Death Differ 16(6):910-20. Epub 2009 Mar 13.
2009
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| 12 | SYNJ1
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| Differential role for synaptojanin 1 in rod and cone photoreceptors.
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| Holzhausen LC, Lewis AA, Cheong KK, Brockerhoff SE.
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| J Comp Neurol 517(5):633-44. doi: 10.1002/cne.22176.
2009
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| 13 | SYNJ1
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| Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
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| Voronov SV, Frere SG, Giovedi S, Pollina EA, Borel C, Zhang H, Schmidt C, Akeson EC, Wenk MR, Cimasoni L, Arancio O, Davisson MT, Antonarakis SE, Gardiner K, De Camilli P, Di Paolo G.
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| Proc Natl Acad Sci U S A 105(27):9415-20. Epub 2008 Jun 30. 2008
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| 14 | SYNJ1
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| The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals.
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| Mani M, Lee SY, Lucast L, Cremona O, Di Paolo G, De Camilli P, Ryan TA.
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| Neuron 56(6):1004-18.
2007
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| 15 | DYRK1A, SYNJ1
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| MNB/DYRK1A phosphorylation regulates the interactions of synaptojanin 1 with endocytic accessory proteins.
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| Adayev T, Chen-Hwang MC, Murakami N, Wang R, Hwang YW.
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| Biochem Biophys Res Commun 351(4):1060-5. Epub 2006 Nov 7.
2006
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| 16 | SYNJ1
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| Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages.
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| Perera RM, Zoncu R, Lucast L, De Camilli P, Toomre D.
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| Proc Natl Acad Sci U S A 103(51):19332-7. Epub 2006 Dec 8.
2006
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| 17 | CDK5, SYNJ1
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| Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses.
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| Lee SY, Wenk MR, Kim Y, Nairn AC, De Camilli P.
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| Proc Natl Acad Sci U S A 101(2):546-51. Epub 2004 Jan 2. 2004
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| 18 | SYNJ1
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| Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: a replication study.
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| Stopkova P, Vevera J, Paclt I, Zukov I, Lachman HM.
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| Psychiatry Res 127(1-2):157-61. 2004
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| 19 | SYNJ1
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| Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder.
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| Saito T, Guan F, Papolos DF, Lau S, Klein M, Fann CS, Lachman HM.
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| Mol Psychiatry 6(4):387-95. 2001
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| 20 | SYNJ1, SYNJ2
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| Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization.
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| Cremona O, Nimmakayalu M, Haffner C, Bray-Ward P, Ward DC, De Camilli P.
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| Cytogenet Cell Genet 88(1-2):89-90. No abstract available. 2000
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| 21 | SYNJ1
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| Essential role of phosphoinositide metabolism in synaptic vesicle recycling.
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| Cremona O, Di Paolo G, Wenk MR, Luthi A, Kim WT, Takei K, Daniell L, Nemoto Y, Shears SB, Flavell RA, McCormick DA, De Camilli P.
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| Cell 99(2):179-88. 1999
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| 22 | SYNJ1
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| Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15.
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| Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P.
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| FEBS Lett 419(2-3):175-80. 1997
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