PIPs in neurological diseases

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1851, Issue 8, 2015, Pages 1066-1082

  Waugh, Mark G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Brain; Disease; Endosome; Lipid; Membrane; Phosphatidylinositol

Indexed keywords

MITOCHONDRIAL PROTEIN; PHOSPHATIDYLINOSITIDE; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 4 PHOSPHATE; PHOSPHOINOSITIDE DEPENDENT PROTEIN KINASE 1; PROTEIN KINASE B; SYNAPTOJANIN; UBIQUITIN PROTEIN LIGASE E3; PHOSPHATIDYLINOSITOL; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PHOSPHOTRANSFERASE;

ALEXANDER DISEASE; ALZHEIMER DISEASE; AUTISM; BLOOD BRAIN BARRIER; BRAIN CANCER; BRAIN ISCHEMIA; CEREBROVASCULAR ACCIDENT; EPILEPSY; GENE MUTATION; GERMLINE MUTATION; GLIOMA; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; JOUBERT SYNDROME; LOSS OF FUNCTION MUTATION; NEUROLOGIC DISEASE; NEURONAL CHANNELOPATHY; PARKINSON DISEASE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; REVIEW; SYNAPTIC TRANSMISSION; TUMOR GROWTH; UBIQUITINATION; BRAIN; GENE EXPRESSION; GENETICS; LOWE SYNDROME; METABOLISM; MUTATION; PATHOLOGY; SIGNAL TRANSDUCTION;

ALZHEIMER DISEASE; BRAIN; CHARCOT-MARIE-TOOTH DISEASE; EPILEPSY; GENE EXPRESSION; HUMANS; MUTATION; OCULOCEREBRORENAL SYNDROME; PARKINSON DISEASE; PHOSPHATIDYLINOSITOLS; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PTEN PHOSPHOHYDROLASE; SIGNAL TRANSDUCTION; STROKE;

EID: 84930045875     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2015.02.002     Document Type: Review

References (378)

1. G.R. Hammond, M.P. Machner, and T. Balla A novel probe for phosphatidylinositol 4-phosphate reveals multiple pools beyond the Golgi J. Cell Biol. 205 2014 113 126 10.1083/jcb.201312072
2. T. Balla Phosphoinositides: tiny lipids with giant impact on cell regulation Physiol. Rev. 93 2013 1019 1137 10.1152/physrev.00028.2012
3. Y. Ueda The role of phosphoinositides in synapse function Mol. Neurobiol. 50 2014 821 838 10.1007/s12035-014-8768-8
4. A. Caccamo, S. Oddo, L.M. Billings, K.N. Green, H. Martinez-Coria, A. Fisher, and F.M. LaFerla M1 receptors play a central role in modulating AD-like pathology in transgenic mice Neuron 49 2006 671 682 10.1016/j.neuron.2006.01.020
5. B.J. Davie, A. Christopoulos, and P.J. Scammells Development of M1 mAChR allosteric and bitopic ligands: prospective therapeutics for the treatment of cognitive deficits ACS Chem. Neurosci. 4 2013 1026 1048 10.1021/cn400086m
6. C. Hock, A. Maddalena, I. Heuser, D. Naber, W. Oertel, H. von der Kammer, M. Wienrich, A. Raschig, M. Deng, J.H. Growdon, and R.M. Nitsch Treatment with the selective muscarinic agonist talsaclidine decreases cerebrospinal fluid levels of total amyloid beta-peptide in patients with Alzheimer's disease Ann. N. Y. Acad. Sci. 920 2000 285 291
7. C. Hock, A. Maddalena, A. Raschig, F. Muller-Spahn, G. Eschweiler, K. Hager, I. Heuser, H. Hampel, T. Muller-Thomsen, W. Oertel, M. Wienrich, A. Signorell, C. Gonzalez-Agosti, and R.M. Nitsch Treatment with the selective muscarinic m1 agonist talsaclidine decreases cerebrospinal fluid levels of A beta 42 in patients with Alzheimer's disease Amyloid 10 2003 1 6
8. P. Chu Sin Chung, and B.L. Kieffer Delta opioid receptors in brain function and diseases Pharmacol. Ther. 140 2013 112 120 10.1016/j.pharmthera.2013.06.003
9. C. Gaveriaux-Ruff, and B.L. Kieffer Delta opioid receptor analgesia: recent contributions from pharmacology and molecular approaches Behav. Pharmacol. 22 2011 405 414 10.1097/FBP.0b013e32834a1f2c
10. T.J. Shi, S.X. Liu, H. Hammarberg, M. Watanabe, Z.Q. Xu, and T. Hokfelt Phospholipase C{beta}3 in mouse and human dorsal root ganglia and spinal cord is a possible target for treatment of neuropathic pain Proc. Natl. Acad. Sci. U. S. A. 105 2008 20004 20008 10.1073/pnas.0810899105
11. B.D. Wright, L. Loo, S.E. Street, A. Ma, B. Taylor-Blake, M.A. Stashko, J. Jin, W.P. Janzen, S.V. Frye, and M.J. Zylka The lipid kinase PIP5K1C regulates pain signaling and sensitization Neuron 82 2014 836 847 10.1016/j.neuron.2014.04.006
12. E.L. Clayton, S. Minogue, and M.G. Waugh Phosphatidylinositol 4-kinases and PI4P metabolism in the nervous system: roles in psychiatric and neurological diseases Mol. Neurobiol. 47 2013 361 372 10.1007/s12035-012-8358-6
13. E.L. Clayton, S. Minogue, and M.G. Waugh Mammalian phosphatidylinositol 4-kinases as modulators of membrane trafficking and lipid signaling networks Prog. Lipid Res. 52 2013 294 304 10.1016/j.plipres.2013.04.002 (S0163-7827(13)00023-4 [pii])
14. Z. Szentpetery, P. Varnai, and T. Balla Acute manipulation of Golgi phosphoinositides to assess their importance in cellular trafficking and signaling Proc. Natl. Acad. Sci. U. S. A. 107 2010 8225 8230 10.1073/pnas.1000157107 (1000157107 [pii])
15. E.J. Dickson, J.B. Jensen, and B. Hille Golgi and plasma membrane pools of PI(4)P contribute to plasma membrane PI(4,5)P2 and maintenance of KCNQ2/3 ion channel current Proc. Natl. Acad. Sci. U. S. A. 111 2014 E2281 E2290 10.1073/pnas.1407133111
16. Q. Zhou, J. Li, H. Yu, Y. Zhai, Z. Gao, Y. Liu, X. Pang, L. Zhang, K. Schulten, F. Sun, and C. Chen Molecular insights into the membrane-associated phosphatidylinositol 4-kinase IIalpha Nat. Commun. 5 2014 3552 10.1038/ncomms4552
17. A. Baumlova, D. Chalupska, B. Rozycki, M. Jovic, E. Wisniewski, M. Klima, A. Dubankova, D.P. Kloer, R. Nencka, T. Balla, and E. Boura The crystal structure of the phosphatidylinositol 4-kinase IIalpha EMBO Rep. 15 2014 1085 1092 10.15252/embr.201438841
18. J.P. Simons, R. Al-Shawi, S. Minogue, M.G. Waugh, C. Wiedemann, S. Evangelou, A. Loesch, T.S. Sihra, R. King, T.T. Warner, and J.J. Hsuan Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons Proc. Natl. Acad. Sci. U. S. A. 106 2009 11535 11539 10.1073/pnas.0903011106 (0903011106 [pii])
19. B. Craige, G. Salazar, and V. Faundez Phosphatidylinositol-4-kinase type II alpha contains an AP-3 sorting motif and a kinase domain that are both required for endosome traffic Mol. Biol. Cell 2008 10.1091/mbc.E07-12-1239 (E07-12-1239 [pii])
20. J. Larimore, K. Tornieri, P.V. Ryder, A. Gokhale, S.A. Zlatic, B. Craige, J.D. Lee, K. Talbot, J.F. Pare, Y. Smith, and V. Faundez The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse Mol. Biol. Cell 22 2011 4854 4867 10.1091/mbc.E11-07-0592 (mbc.E11-07-0592 [pii])
21. N. Muthusamy, V. Faundez, and C. Bergson Calcyon, a mammalian specific NEEP21 family member, interacts with adaptor protein complex 3 (AP-3) and regulates targeting of AP-3 cargoes J. Neurochem. 123 2012 60 72 10.1111/j.1471-4159.2012.07814.x
22. G. Salazar, B. Craige, B.H. Wainer, J. Guo, P. De Camilli, and V. Faundez Phosphatidylinositol-4-kinase type II alpha is a component of adaptor protein-3-derived vesicles Mol. Biol. Cell 16 2005 3692 3704 10.1091/mbc.E05-01-0020 (E05-01-0020 [pii])
23. G. Salazar, S. Zlatic, B. Craige, A.A. Peden, J. Pohl, and V. Faundez Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells J. Biol. Chem. 284 2009 1790 1802 10.1074/jbc.M805991200 (M805991200 [pii])
24. M. Jovic, M.J. Kean, A. Dubankova, E. Boura, A.C. Gingras, J.A. Brill, and T. Balla Endosomal sorting of VAMP3 is regulated by PI4K2A J. Cell Sci. 127 2014 3745 3756 10.1242/jcs.148809
25. N. Bojjireddy, J. Botyanszki, G. Hammond, D. Creech, R. Peterson, D.C. Kemp, M. Snead, R. Brown, A. Morrison, S. Wilson, S. Harrison, C. Moore, and T. Balla Pharmacological and genetic targeting of the PI4KA enzyme reveals its important role in maintaining plasma membrane phosphatidylinositol 4-phosphate and phosphatidylinositol 4,5-bisphosphate levels J. Biol. Chem. 289 2014 6120 6132 10.1074/jbc.M113.531426
26. G.B. Willars, S.R. Nahorski, and R.A. Challiss Differential regulation of muscarinic acetylcholine receptor-sensitive polyphosphoinositide pools and consequences for signaling in human neuroblastoma cells J. Biol. Chem. 273 1998 5037 5046
27. S. Minogue, K.M. Chu, E.J. Westover, D.F. Covey, J.J. Hsuan, and M.G. Waugh Relationship between phosphatidylinositol 4-phosphate synthesis, membrane organization, and lateral diffusion of PI4KIIalpha at the trans-Golgi network J. Lipid Res. 51 2010 2314 2324 10.1194/jlr.M005751 (jlr.M005751 [pii])
28. M.G. Waugh Raft-like membranes from the trans-Golgi network and endosomal compartments Nat. Protoc. 8 2013 2429 2439 10.1038/nprot.2013.148 (nprot.2013.148 [pii])
29. M.G. Waugh, S. Minogue, J.S. Anderson, A. Balinger, D. Blumenkrantz, D.P. Calnan, R. Cramer, and J.J. Hsuan Localization of a highly active pool of type II phosphatidylinositol 4-kinase in a p97/valosin-containing-protein-rich fraction of the endoplasmic reticulum Biochem. J. 373 2003 57 63 10.1042/BJ20030089 (BJ20030089 [pii])
30. A. Balla, G. Tuymetova, M. Barshishat, M. Geiszt, and T. Balla Characterization of type II phosphatidylinositol 4-kinase isoforms reveals association of the enzymes with endosomal vesicular compartments J. Biol. Chem. 277 2002 20041 20050 10.1074/jbc.M111807200
31. J. Guo, M.R. Wenk, L. Pellegrini, F. Onofri, F. Benfenati, and P. De Camilli Phosphatidylinositol 4-kinase type IIalpha is responsible for the phosphatidylinositol 4-kinase activity associated with synaptic vesicles Proc. Natl. Acad. Sci. U. S. A. 100 2003 3995 4000 10.1073/pnas.0230488100 (0230488100 [pii])
32. J. Burgess, L.M. Del Bel, C.I. Ma, B. Barylko, G. Polevoy, J. Rollins, J.P. Albanesi, H. Kramer, and J.A. Brill Type II phosphatidylinositol 4-kinase regulates trafficking of secretory granule proteins in Drosophila Development 139 2012 3040 3050 10.1242/dev.077644
33. J. Mossinger, M. Wieffer, E. Krause, C. Freund, F. Gerth, M. Krauss, and V. Haucke Phosphatidylinositol 4-kinase IIalpha function at endosomes is regulated by the ubiquitin ligase Itch EMBO Rep. 2012 10.1038/embor.2012.164 (embor2012164 [pii])
34. P.V. Ryder, R. Vistein, A. Gokhale, M.N. Seaman, M.A. Puthenveedu, and V. Faundez The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIalpha Mol. Biol. Cell 24 2013 2269 2284 10.1091/mbc.E13-02-0088
35. J. Larimore, S.A. Zlatic, A. Gokhale, K. Tornieri, K.S. Singleton, A.P. Mullin, J. Tang, K. Talbot, and V. Faundez Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes J. Biol. Chem. 289 2014 14291 14300 10.1074/jbc.M114.553750
36. A.P. Mullin, A. Gokhale, J. Larimore, and V. Faundez Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene Mol. Neurobiol. 44 2011 53 64 10.1007/s12035-011-8183-3
37. S.A. Zlatic, E.J. Grossniklaus, P.V. Ryder, G. Salazar, A.L. Mattheyses, A.A. Peden, and V. Faundez Chemical-genetic disruption of clathrin function spares adaptor complex 3-dependent endosome vesicle biogenesis Mol. Biol. Cell 24 2013 2378 2388 10.1091/mbc.E12-12-0860
38. A.P. Mullin, A. Gokhale, A. Moreno-De-Luca, S. Sanyal, J.L. Waddington, and V. Faundez Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes Transl. Psychiatry 3 2013 e329 10.1038/tp.2013.108
39. A.R. Alfonso Pecchio, A.M. Cardozo Gizzi, M.L. Renner, M. Molina-Calavita, and B.L. Caputto c-Fos activates and physically interacts with specific enzymes of the pathway of synthesis of polyphosphoinositides Mol. Biol. Cell 22 2011 4716 4725 10.1091/mbc.E11-03-0259 (mbc.E11-03-0259 [pii])
40. B.L. Caputto, A.M. Cardozo Gizzi, and G.A. Gil c-Fos: an AP-1 transcription factor with an additional cytoplasmic, non-genomic lipid synthesis activation capacity Biochim. Biophys. Acta 1841 2014 1241 1246 10.1016/j.bbalip.2014.05.007
41. J.W. Robinson, I. Leshchyns'ka, H. Farghaian, W.E. Hughes, V. Sytnyk, G.G. Neely, and A.R. Cole PI4KIIalpha phosphorylation by GSK3 directs vesicular trafficking to lysosomes Biochem. J. 2014 10.1042/BJ20140497
42. B. Barylko, S.H. Gerber, D.D. Binns, N. Grichine, M. Khvotchev, T.C. Sudhof, and J.P. Albanesi A novel family of phosphatidylinositol 4-kinases conserved from yeast to humans J. Biol. Chem. 276 2001 7705 7708 10.1074/jbc.C000861200 (C000861200 [pii])
43. B. Barylko, Y.S. Mao, P. Wlodarski, G. Jung, D.D. Binns, H.Q. Sun, H.L. Yin, and J.P. Albanesi Palmitoylation controls the catalytic activity and subcellular distribution of phosphatidylinositol 4-kinase II{alpha} J. Biol. Chem. 284 2009 9994 10003 10.1074/jbc.M900724200 (M900724200 [pii])
44. B. Barylko, P. Wlodarski, D.D. Binns, S.H. Gerber, S. Earnest, T.C. Sudhof, N. Grichine, and J.P. Albanesi Analysis of the catalytic domain of phosphatidylinositol 4-kinase type II J. Biol. Chem. 277 2002 44366 44375 10.1074/jbc.M203241200 (M203241200 [pii])
45. D. Lu, H.Q. Sun, H. Wang, B. Barylko, Y. Fukata, M. Fukata, J.P. Albanesi, and H.L. Yin Phosphatidylinositol 4-kinase IIalpha is palmitoylated by Golgi-localized palmitoyltransferases in cholesterol-dependent manner J. Biol. Chem. 287 2012 21856 21865 10.1074/jbc.M112.348094 (M112.348094 [pii])
46. M.G. Waugh, D. Lawson, S.K. Tan, and J.J. Hsuan Phosphatidylinositol 4-phosphate synthesis in immunoisolated caveolae-like vesicles and low buoyant density non-caveolar membranes J. Biol. Chem. 273 1998 17115 17121
47. M.G. Waugh, S. Minogue, D. Blumenkrantz, J.S. Anderson, and J.J. Hsuan Identification and characterization of differentially active pools of type IIalpha phosphatidylinositol 4-kinase activity in unstimulated A431 cells Biochem. J. 376 2003 497 503 10.1042/BJ20031212 (BJ20031212 [pii])
48. M.G. Waugh, S. Minogue, D. Chotai, F. Berditchevski, and J.J. Hsuan Lipid and peptide control of phosphatidylinositol 4-kinase IIalpha activity on Golgi-endosomal rafts J. Biol. Chem. 281 2006 3757 3763 10.1074/jbc.M506527200 (M506527200 [pii])
49. S. Banerji, M. Ngo, C.F. Lane, C.A. Robinson, S. Minogue, and N.D. Ridgway Oxysterol binding protein-dependent activation of sphingomyelin synthesis in the golgi apparatus requires phosphatidylinositol 4-kinase IIalpha Mol. Biol. Cell 21 2010 4141 4150 10.1091/mbc.E10-05-0424 (E10-05-0424 [pii])
50. T. Liu, and S.Y. Lee Phosphatidylinositol 4-phosphate 5-kinase alpha negatively regulates nerve growth factor-induced neurite outgrowth in PC12 cells Exp. Mol. Med. 45 2013 e16 10.1038/emm.2013.18
51. M. Yamazaki, Y. Yamauchi, Y. Goshima, and Y. Kanaho Phosphatidylinositol 4-phosphate 5-kinase beta regulates growth cone morphology and semaphorin 3A-triggered growth cone collapse in mouse dorsal root ganglion neurons Neurosci. Lett. 547 2013 59 64 10.1016/j.neulet.2013.04.062
52. L.A. Volpicelli-Daley, L. Lucast, L.W. Gong, L. Liu, J. Sasaki, T. Sasaki, C.S. Abrams, Y. Kanaho, and P. De Camilli Phosphatidylinositol-4-phosphate 5-kinases and phosphatidylinositol 4,5-bisphosphate synthesis in the brain J. Biol. Chem. 285 2010 28708 28714 10.1074/jbc.M110.132191 (M110.132191 [pii])
53. M.R. Wenk, L. Pellegrini, V.A. Klenchin, G. Di Paolo, S. Chang, L. Daniell, M. Arioka, T.F. Martin, and P. De Camilli PIP kinase Igamma is the major PI(4,5)P(2) synthesizing enzyme at the synapse Neuron 32 2001 79 88 (S0896-6273(01)00456-1 [pii])
54. S.J. Bulley, J.H. Clarke, A. Droubi, M.L. Giudici, and R.F. Irvine Exploring phosphatidylinositol 5-phosphate 4-kinase function Adv. Biol. Regul. 2014 10.1016/j.jbior.2014.09.007
55. A. Shisheva PIKfyve and its Lipid products in health and in sickness Curr. Top. Microbiol. Immunol. 362 2012 127 162 10.1007/978-94-007-5025-8-7
56. D. Sbrissa, O.C. Ikonomov, and A. Shisheva PIKfyve, a mammalian ortholog of yeast Fab1p lipid kinase, synthesizes 5-phosphoinositides. Effect of insulin J. Biol. Chem. 274 1999 21589 21597
57. D. Sbrissa, O.C. Ikonomov, C. Filios, K. Delvecchio, and A. Shisheva Functional dissociation between PIKfyve-synthesized PtdIns5P and PtdIns(3,5)P2 by means of the PIKfyve inhibitor YM201636 Am. J. Physiol. Cell Physiol. 303 2012 C436 C446 10.1152/ajpcell.00105.2012
58. S.N. Zolov, D. Bridges, Y. Zhang, W.W. Lee, E. Riehle, R. Verma, G.M. Lenk, K. Converso-Baran, T. Weide, R.L. Albin, A.R. Saltiel, M.H. Meisler, M.W. Russell, and L.S. Weisman In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P Proc. Natl. Acad. Sci. U. S. A. 109 2012 17472 17477 10.1073/pnas.1203106109
59. G. Narkis, R. Ofir, D. Landau, E. Manor, M. Volokita, R. Hershkowitz, K. Elbedour, and O.S. Birk Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway Am. J. Hum. Genet. 81 2007 530 539 10.1086/520771 (S0002-9297(07)61349-4 [pii])
60. A. Bayot, S. Reichman, S. Lebon, Z. Csaba, L. Aubry, G. Sterkers, I. Husson, M. Rak, and P. Rustin Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies Hum. Mol. Genet. 22 2013 2894 2904 10.1093/hmg/ddt144
61. A. Bayot, and P. Rustin Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas Oxidative Med. Cell. Longev. 2013 2013 725635 10.1155/2013/725635
62. J.J. Carvajal, M.A. Pook, M. dos Santos, K. Doudney, R. Hillermann, S. Minogue, R. Williamson, J.J. Hsuan, and S. Chamberlain The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase Nat. Genet. 14 1996 157 162 10.1038/ng1096-157
63. B. Liu, and F. Qin Functional control of cold- and menthol-sensitive TRPM8 ion channels by phosphatidylinositol 4,5-bisphosphate J. Neurosci. 25 2005 1674 1681 10.1523/JNEUROSCI. 3632-04.2005
64. C.L. Huang, S. Feng, and D.W. Hilgemann Direct activation of inward rectifier potassium channels by PIP2 and its stabilization by Gbetagamma Nature 391 1998 803 806 10.1038/35882
65. Y. Karashima, J. Prenen, V. Meseguer, G. Owsianik, T. Voets, and B. Nilius Modulation of the transient receptor potential channel TRPA1 by phosphatidylinositol 4,5-biphosphate manipulators Pflugers Arch. 457 2008 77 89 10.1007/s00424-008-0493-6
66. B. Liu, C. Zhang, and F. Qin Functional recovery from desensitization of vanilloid receptor TRPV1 requires resynthesis of phosphatidylinositol 4,5-bisphosphate J. Neurosci. 25 2005 4835 4843 10.1523/JNEUROSCI. 1296-05.2005
67. B. Liu, H. Liang, L. Liu, and H. Zhang Phosphatidylinositol 4,5-bisphosphate hydrolysis mediates histamine-induced KCNQ/M current inhibition Am. J. Physiol. Cell Physiol. 295 2008 C81 C91 10.1152/ajpcell.00028.2008
68. M. Mandal, and Z. Yan Phosphatidylinositol (4,5)-bisphosphate regulation of N-methyl-d-aspartate receptor channels in cortical neurons Mol. Pharmacol. 76 2009 1349 1359 10.1124/mol.109.058701
69. T. Rohacs, C.M. Lopes, I. Michailidis, and D.E. Logothetis PI(4,5)P2 regulates the activation and desensitization of TRPM8 channels through the TRP domain Nat. Neurosci. 8 2005 626 634 10.1038/nn1451
70. B.C. Suh, and B. Hille Recovery from muscarinic modulation of M current channels requires phosphatidylinositol 4,5-bisphosphate synthesis Neuron 35 2002 507 520 (S0896627302007900 [pii])
71. B.C. Suh, and B. Hille PIP2 is a necessary cofactor for ion channel function: how and why? Annu. Rev. Biophys. 37 2008 175 195 10.1146/annurev.biophys.37.032807.125859
72. V. Telezhkin, D.A. Brown, and A.J. Gibb Distinct subunit contributions to the activation of M-type potassium channels by PI(4,5)P2 J. Gen. Physiol. 140 2012 41 53 10.1085/jgp.201210796
73. M.R. Whorton, and R. MacKinnon Crystal structure of the mammalian GIRK2 K+ channel and gating regulation by G proteins, PIP2, and sodium Cell 147 2011 199 208 10.1016/j.cell.2011.07.046
74. M. Zhang, X.Y. Meng, M. Cui, J.M. Pascal, D.E. Logothetis, and J.F. Zhang Selective phosphorylation modulates the PIP2 sensitivity of the CaM-SK channel complex Nat. Chem. Biol. 10 2014 753 759 10.1038/nchembio.1592
75. X. Zhang, X. Chen, C. Jia, X. Geng, X. Du, and H. Zhang Depolarization increases phosphatidylinositol (PI) 4,5-bisphosphate level and KCNQ currents through PI 4-kinase mechanisms J. Biol. Chem. 285 2010 9402 9409 10.1074/jbc.M109.068205 (M109.068205 [pii])
76. P. Zhou, H. Yu, M. Gu, F.J. Nan, Z. Gao, and M. Li Phosphatidylinositol 4,5-bisphosphate alters pharmacological selectivity for epilepsy-causing KCNQ potassium channels Proc. Natl. Acad. Sci. U. S. A. 110 2013 8726 8731 10.1073/pnas.1302167110
77. H. Zhang, C. He, X. Yan, T. Mirshahi, and D.E. Logothetis Activation of inwardly rectifying K+ channels by distinct PtdIns(4,5)P2 interactions Nat. Cell Biol. 1 1999 183 188 10.1038/11103
78. E. Kobrinsky, T. Mirshahi, H. Zhang, T. Jin, and D.E. Logothetis Receptor-mediated hydrolysis of plasma membrane messenger PIP2 leads to K+-current desensitization Nat. Cell Biol. 2 2000 507 514 10.1038/35019544
79. T. Rohacs, J. Chen, G.D. Prestwich, and D.E. Logothetis Distinct specificities of inwardly rectifying K+ channels for phosphoinositides J. Biol. Chem. 274 1999 36065 36072
80. N. Takahashi, S. Hamada-Nakahara, Y. Itoh, K. Takemura, A. Shimada, Y. Ueda, M. Kitamata, R. Matsuoka, K. Hanawa-Suetsugu, Y. Senju, M.X. Mori, S. Kiyonaka, D. Kohda, A. Kitao, Y. Mori, and S. Suetsugu TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P2 Nat. Commun. 5 2014 4994 10.1038/ncomms5994
81. G.R. Hammond, M.J. Fischer, K.E. Anderson, J. Holdich, A. Koteci, T. Balla, and R.F. Irvine PI4P and PI(4,5)P2 are essential but independent lipid determinants of membrane identity Science 337 2012 727 730 10.1126/science.1222483
82. W. Wang, M.R. Whorton, and R. MacKinnon Quantitative analysis of mammalian GIRK2 channel regulation by G proteins, the signaling lipid PIP2 and Na+ in a reconstituted system Elife 3 2014 e03671 10.7554/eLife.03671
83. M.R. Whorton, and R. MacKinnon X-ray structure of the mammalian GIRK2-betagamma G-protein complex Nature 498 2013 190 197 10.1038/nature12241
84. L.Y. Ballester, C.G. Vanoye, and A.L. George Jr. Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome Channels (Austin) 1 2007 209 217
85. N.P. Davies, P. Imbrici, D. Fialho, C. Herd, L.G. Bilsland, A. Weber, R. Mueller, D. Hilton-Jones, J. Ealing, B.R. Boothman, P. Giunti, L.M. Parsons, M. Thomas, A.Y. Manzur, K. Jurkat-Rott, F. Lehmann-Horn, P.F. Chinnery, M. Rose, D.M. Kullmann, and M.G. Hanna Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation Neurology 65 2005 1083 1089 10.1212/01.wnl.0000178888.03767.74
86. M.R. Donaldson, J.L. Jensen, M. Tristani-Firouzi, R. Tawil, S. Bendahhou, W.A. Suarez, A.M. Cobo, J.J. Poza, E. Behr, J. Wagstaff, P. Szepetowski, S. Pereira, T. Mozaffar, D.M. Escolar, Y.H. Fu, and L.J. Ptacek PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome Neurology 60 2003 1811 1816
87. D. Ma, X.D. Tang, T.B. Rogers, and P.A. Welling An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway J. Biol. Chem. 282 2007 5781 5789 10.1074/jbc.M608776200
88. N. D'Avanzo, S.J. Lee, W.W. Cheng, and C.G. Nichols Energetics and location of phosphoinositide binding in human Kir2.1 channels J. Biol. Chem. 288 2013 16726 16737 10.1074/jbc.M113.452540
89. S.B. Hansen, X. Tao, and R. MacKinnon Structural basis of PIP2 activation of the classical inward rectifier K+ channel Kir2.2 Nature 477 2011 495 498 10.1038/nature10370
90. H.X. Deng, C.J. Klein, J. Yan, Y. Shi, Y. Wu, F. Fecto, H.J. Yau, Y. Yang, H. Zhai, N. Siddique, E.T. Hedley-Whyte, R. Delong, M. Martina, P.J. Dyck, and T. Siddique Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 Nat. Genet. 42 2010 165 169 10.1038/ng.509
91. W. Everaerts, B. Nilius, and G. Owsianik The vanilloid transient receptor potential channel TRPV4: from structure to disease Prog. Biophys. Mol. Biol. 103 2010 2 17 10.1016/j.pbiomolbio.2009.10.002
92. A. Garcia-Elias, S. Mrkonjic, C. Pardo-Pastor, H. Inada, U.A. Hellmich, F. Rubio-Moscardo, C. Plata, R. Gaudet, R. Vicente, and M.A. Valverde Phosphatidylinositol-4,5-biphosphate-dependent rearrangement of TRPV4 cytosolic tails enables channel activation by physiological stimuli Proc. Natl. Acad. Sci. U. S. A. 110 2013 9553 9558 10.1073/pnas.1220231110
93. G. Landoure, A.A. Zdebik, T.L. Martinez, B.G. Burnett, H.C. Stanescu, H. Inada, Y. Shi, A.A. Taye, L. Kong, C.H. Munns, S.S. Choo, C.B. Phelps, R. Paudel, H. Houlden, C.L. Ludlow, M.J. Caterina, R. Gaudet, R. Kleta, K.H. Fischbeck, and C.J. Sumner Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Nat. Genet. 42 2010 170 174 10.1038/ng.512
94. V. Lukacs, Y. Yudin, G.R. Hammond, E. Sharma, K. Fukami, and T. Rohacs Distinctive changes in plasma membrane phosphoinositides underlie differential regulation of TRPV1 in nociceptive neurons J. Neurosci. 33 2013 11451 11463 10.1523/JNEUROSCI. 5637-12.2013
95. M. Lindner, M.G. Leitner, C.R. Halaszovich, G.R. Hammond, and D. Oliver Probing the regulation of TASK potassium channels by PI4,5P(2) with switchable phosphoinositide phosphatases J. Physiol. 589 2011 3149 3162 10.1113/jphysiol.2011.208983 (jphysiol.2011.208983 [pii])
96. P.J. Hamilton, A.N. Belovich, G. Khelashvili, C. Saunders, K. Erreger, J.A. Javitch, H.H. Sitte, H. Weinstein, H.J. Matthies, and A. Galli PIP2 regulates psychostimulant behaviors through its interaction with a membrane protein Nat. Chem. Biol. 10 2014 582 589 10.1038/nchembio.1545
97. P. Choudhury, S. Srivastava, Z. Li, K. Ko, M. Albaqumi, K. Narayan, W.A. Coetzee, M.A. Lemmon, and E.Y. Skolnik Specificity of the myotubularin family of phosphatidylinositol-3-phosphatase is determined by the PH/GRAM domain J. Biol. Chem. 281 2006 31762 31769 10.1074/jbc.M606344200
98. C.L. Chen, C.F. Lin, S.W. Wan, L.S. Wei, M.C. Chen, T.M. Yeh, H.S. Liu, R. Anderson, and Y.S. Lin Anti-dengue virus nonstructural protein 1 antibodies cause NO-mediated endothelial cell apoptosis via ceramide-regulated glycogen synthase kinase-3beta and NF-kappaB activation J. Immunol. 191 2013 1744 1752 10.4049/jimmunol.1201976
99. X.P. Dong, X. Cheng, E. Mills, M. Delling, F. Wang, T. Kurz, and H. Xu The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel Nature 455 2008 992 996 10.1038/nature07311
100. X.P. Dong, D. Shen, X. Wang, T. Dawson, X. Li, Q. Zhang, X. Cheng, Y. Zhang, L.S. Weisman, M. Delling, and H. Xu PI(3,5)P(2) controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome Nat. Commun. 1 2010 38 10.1038/ncomms1037
101. C.C. Chen, M. Keller, M. Hess, R. Schiffmann, N. Urban, A. Wolfgardt, M. Schaefer, F. Bracher, M. Biel, C. Wahl-Schott, and C. Grimm A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV Nat. Commun. 5 2014 4681 10.1038/ncomms5681
102. S. Jungmichel, K.B. Sylvestersen, C. Choudhary, S. Nguyen, M. Mann, and M.L. Nielsen Specificity and commonality of the phosphoinositide-binding proteome analyzed by quantitative mass spectrometry Cell Rep. 6 2014 578 591 10.1016/j.celrep.2013.12.038
103. R.V. Stahelin, J.L. Scott, and C.T. Frick Cellular and molecular interactions of phosphoinositides and peripheral proteins Chem. Phys. Lipids 182 2014 3 18 10.1016/j.chemphyslip.2014.02.002
104. B. Mesmin, J. Bigay, J. Moser von Filseck, S. Lacas-Gervais, G. Drin, and B. Antonny A four-step cycle driven by PI(4)P hydrolysis directs sterol/PI(4)P exchange by the ER-Golgi tether OSBP Cell 155 2013 830 843 10.1016/j.cell.2013.09.056
105. T. Shachar, C. Lo Bianco, A. Recchia, C. Wiessner, A. Raas-Rothschild, and A.H. Futerman Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond Mov. Disord. 26 2011 1593 1604 10.1002/mds.23774
106. S. Zuchner, M. Noureddine, M. Kennerson, K. Verhoeven, K. Claeys, P. De Jonghe, J. Merory, S.A. Oliveira, M.C. Speer, J.E. Stenger, G. Walizada, D. Zhu, M.A. Pericak-Vance, G. Nicholson, V. Timmerman, and J.M. Vance Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease Nat. Genet. 37 2005 289 294 10.1038/ng1514
107. A.M. Rossor, J.M. Polke, H. Houlden, and M.M. Reilly Clinical implications of genetic advances in Charcot-Marie-Tooth disease Nat. Rev. Neurol. 9 2013 562 571 10.1038/nrneurol.2013.179
108. M. Bitoun, A.C. Durieux, B. Prudhon, J.A. Bevilacqua, A. Herledan, V. Sakanyan, A. Urtizberea, L. Cartier, N.B. Romero, and P. Guicheney Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis Hum. Mutat. 30 2009 1419 1427 10.1002/humu.21086
109. M. Bitoun, T. Stojkovic, B. Prudhon, C.A. Maurage, P. Latour, P. Vermersch, and P. Guicheney A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings Neuromuscul. Disord. 18 2008 334 338 10.1016/j.nmd.2008.01.005
110. G.M. Fabrizi, M. Ferrarini, T. Cavallaro, I. Cabrini, R. Cerini, L. Bertolasi, and N. Rizzuto Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease Neurology 69 2007 291 295 10.1212/01.wnl.0000265820.51075.61
111. A.M. Gonzalez-Jamett, F. Momboisse, V. Haro-Acuna, J.A. Bevilacqua, P. Caviedes, and A.M. Cardenas Dynamin-2 function and dysfunction along the secretory pathway Front. Endocrinol. (Lausanne) 4 2013 126 10.3389/fendo.2013.00126
112. N.G. James, M.A. Digman, J.A. Ross, B. Barylko, L. Wang, J. Li, Y. Chen, J.D. Mueller, E. Gratton, J.P. Albanesi, and D.M. Jameson A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells Biochim. Biophys. Acta 1840 2014 315 321 10.1016/j.bbagen.2013.09.001
113. H. Jungbluth, T. Cullup, S. Lillis, H. Zhou, S. Abbs, C. Sewry, and F. Muntoni Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation Neuromuscul. Disord. 20 2010 49 52 10.1016/j.nmd.2009.10.005
114. J.A. Kenniston, and M.A. Lemmon Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients EMBO J. 29 2010 3054 3067 10.1038/emboj.2010.187
115. B. Kierdaszuk, M. Berdynski, J. Karolczak, M.J. Redowicz, C. Zekanowski, and A.M. Kaminska A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy Neuromuscul. Disord. 23 2013 219 228 10.1016/j.nmd.2012.12.007
116. A. Melberg, C. Kretz, H. Kalimo, C. Wallgren-Pettersson, A. Toussaint, J. Bohm, E. Stalberg, and J. Laporte Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset Neuromuscul. Disord. 20 2010 53 56 10.1016/j.nmd.2009.10.006
117. H. Azzedine, P. Zavadakova, V. Plante-Bordeneuve, M. Vaz Pato, N. Pinto, L. Bartesaghi, J. Zenker, O. Poirot, N. Bernard-Marissal, E. Arnaud Gouttenoire, R. Cartoni, A. Title, G. Venturini, J.J. Medard, E. Makowski, L. Schols, K.G. Claeys, C. Stendel, A. Roos, J. Weis, O. Dubourg, J. Leal Loureiro, G. Stevanin, G. Said, A. Amato, J. Baraban, E. LeGuern, J. Senderek, C. Rivolta, and R. Chrast PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease Hum. Mol. Genet. 22 2013 4224 4232 10.1093/hmg/ddt274
118. H.J. Kim, Y.B. Hong, J.M. Park, Y.R. Choi, Y.J. Kim, B.R. Yoon, H. Koo, J.H. Yoo, S.B. Kim, M. Park, K.W. Chung, and B.O. Choi Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease Orphanet J. Rare Dis. 8 2013 104 10.1186/1750-1172-8-104
119. I. Maystadt, R. Rezsohazy, M. Barkats, S. Duque, P. Vannuffel, S. Remacle, B. Lambert, M. Najimi, E. Sokal, A. Munnich, L. Viollet, and C. Verellen-Dumoulin The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset Am. J. Hum. Genet. 81 2007 67 76 10.1086/518900
120. P.G. Billcliff, and M. Lowe Inositol lipid phosphatases in membrane trafficking and human disease Biochem. J. 461 2014 159 175 10.1042/BJ20140361
121. M. Pirruccello, and P. De Camilli Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL Trends Biochem. Sci. 37 2012 134 143 10.1016/j.tibs.2012.01.002
122. S. Hakim, M.C. Bertucci, S.E. Conduit, D.L. Vuong, and C.A. Mitchell Inositol polyphosphate phosphatases in human disease Curr. Top. Microbiol. Immunol. 362 2012 247 314 10.1007/978-94-007-5025-8-12
123. Y. Liu, and V.A. Bankaitis Phosphoinositide phosphatases in cell biology and disease Prog. Lipid Res. 49 2010 201 217 10.1016/j.plipres.2009.12.001
124. H.K. Kim, J.H. Kim, Y.M. Kim, G.H. Kim, B.H. Lee, J.H. Choi, and H.W. Yoo Lowe syndrome: a single center's experience in Korea Korean J. Pediatr. 57 2014 140 148 10.3345/kjp.2014.57.3.140
125. O. Attree, I.M. Olivos, I. Okabe, L.C. Bailey, D.L. Nelson, R.A. Lewis, R.R. McInnes, and R.L. Nussbaum The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase Nature 358 1992 239 242 10.1038/358239a0
126. T. Liu, Z. Yue, H. Wang, H. Tong, and L. Sun Novel mutation of OCRL1 in Lowe syndrome Indian J. Pediatr. 2014 10.1007/s12098-014-1581-6
127. S.M. Pasternack, D. Bockenhauer, M. Refke, V. Tasic, M. Draaken, C. Conrad, M. Born, R.C. Betz, H. Reutter, and M. Ludwig A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL Klin. Padiatr. 225 2013 29 33 10.1055/s-0032-1321900
128. R. Peces, C. Peces, E. de Sousa, C. Vega, R. Selgas, and J. Nevado A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome Int. Urol. Nephrol. 45 2013 1767 1771 10.1007/s11255-012-0246-5
129. A. Kanik, B. Kasap-Demir, R. Atesli, K. Eliacik, O. Yavascan, and M. Helvaci A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome Turk. J. Pediatr. 55 2013 82 85
130. K. Sugimoto, H. Nishi, T. Miyazawa, S. Fujita, M. Okada, and T. Takemura A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome Tohoku J. Exp. Med. 232 2014 163 166
131. L. Tresaugues, C. Silvander, S. Flodin, M. Welin, T. Nyman, S. Graslund, M. Hammarstrom, H. Berglund, and P. Nordlund Structural basis for phosphoinositide substrate recognition, catalysis, and membrane interactions in human inositol polyphosphate 5-phosphatases Structure 22 2014 744 755 10.1016/j.str.2014.01.013
132. M. Bohdanowicz, D.M. Balkin, P. De Camilli, and S. Grinstein Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling Mol. Biol. Cell 23 2012 176 187 10.1091/mbc.E11-06-0489 (mbc.E11-06-0489 [pii])
133. Z.B. Mehta, G. Pietka, and M. Lowe The cellular and physiological functions of the Lowe syndrome protein OCRL1 Traffic 15 2014 471 487 10.1111/tra.12160
134. D. Dambournet, M. Machicoane, L. Chesneau, M. Sachse, M. Rocancourt, A. El Marjou, E. Formstecher, R. Salomon, B. Goud, and A. Echard Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis Nat. Cell Biol. 13 2011 981 988 10.1038/ncb2279 (ncb2279 [pii])
135. M. Vicinanza, A. Di Campli, E. Polishchuk, M. Santoro, G. Di Tullio, A. Godi, E. Levtchenko, M.G. De Leo, R. Polishchuk, L. Sandoval, M.P. Marzolo, and M.A. De Matteis OCRL controls trafficking through early endosomes via PtdIns4,5P(2)-dependent regulation of endosomal actin EMBO J. 30 2011 4970 4985 10.1038/emboj.2011.354 (emboj2011354 [pii])
136. R. Montjean, R. Aoidi, P. Desbois, J. Rucci, M. Trichet, R. Salomon, J. Rendu, J. Faure, J. Lunardi, G. Gacon, P. Billuart, and O. Dorseuil OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells Hum. Mol. Genet. 2014 10.1093/hmg/ddu514
137. R. Nandez, D.M. Balkin, M. Messa, L. Liang, S. Paradise, H. Czapla, M.Y. Hein, J.S. Duncan, M. Mann, and P. De Camilli A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells Elife 3 2014 e02975 10.7554/eLife.02975
138. C.J. Noakes, G. Lee, and M. Lowe The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway Mol. Biol. Cell 22 2011 606 623 10.1091/mbc.E10-08-0730
139. B.G. Coon, D. Mukherjee, C.B. Hanna, D.J. Riese II, M. Lowe, and R.C. Aguilar Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase Hum. Mol. Genet. 18 2009 4478 4491 10.1093/hmg/ddp407
140. O. Devuyst, and R.V. Thakker Dent's disease Orphanet J. Rare Dis. 5 2010 28 10.1186/1750-1172-5-28
141. Y. Mao, D.M. Balkin, R. Zoncu, K.S. Erdmann, L. Tomasini, F. Hu, M.M. Jin, M.E. Hodsdon, and P. De Camilli A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism EMBO J. 28 2009 1831 1842 10.1038/emboj.2009.155 (emboj2009155 [pii])
142. R. Choudhury, C.J. Noakes, E. McKenzie, C. Kox, and M. Lowe Differential clathrin binding and subcellular localization of OCRL1 splice isoforms J. Biol. Chem. 284 2009 9965 9973 10.1074/jbc.M807442200 (M807442200 [pii])
143. H.J. McCrea, S. Paradise, L. Tomasini, M. Addis, M.A. Melis, M.A. De Matteis, and P. De Camilli All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding Biochem. Biophys. Res. Commun. 369 2008 493 499 10.1016/j.bbrc.2008.02.067 (S0006-291X(08)00302-1 [pii])
144. M. Pirruccello, L.E. Swan, E. Folta-Stogniew, and P. De Camilli Recognition of the F&H motif by the Lowe syndrome protein OCRL Nat. Struct. Mol. Biol. 18 2011 789 795 10.1038/nsmb.2071
145. K.L. Philpott, M.J. McCarthy, A. Klippel, and L.L. Rubin Activated phosphatidylinositol 3-kinase and Akt kinase promote survival of superior cervical neurons J. Cell Biol. 139 1997 809 815
146. T. Shien, H. Doihara, H. Hara, H. Takahashi, S. Yoshitomi, N. Taira, Y. Ishibe, J. Teramoto, M. Aoe, and N. Shimizu PLC and PI3K pathways are important in the inhibition of EGF-induced cell migration by gefitinib ('Iressa', ZD1839) Breast Cancer 11 2004 367 373
147. G.L. Weber, M.O. Parat, Z.A. Binder, G.L. Gallia, and G.J. Riggins Abrogation of PIK3CA or PIK3R1 reduces proliferation, migration, and invasion in glioblastoma multiforme cells Oncotarget 2 2011 833 849
148. E. Piccolo, P.F. Innominato, M.A. Mariggio, T. Maffucci, S. Iacobelli, and M. Falasca The mechanism involved in the regulation of phospholipase Cgamma1 activity in cell migration Oncogene 21 2002 6520 6529 10.1038/sj.onc.1205821 (1205821 [pii])
149. Y. Posor, M. Eichhorn-Gruenig, D. Puchkov, J. Schoneberg, A. Ullrich, A. Lampe, R. Muller, S. Zarbakhsh, F. Gulluni, E. Hirsch, M. Krauss, C. Schultz, J. Schmoranzer, F. Noe, and V. Haucke Spatiotemporal control of endocytosis by phosphatidylinositol-3,4-bisphosphate Nature 499 2013 233 237 10.1038/nature12360
150. I. Franco, F. Gulluni, C.C. Campa, C. Costa, J.P. Margaria, E. Ciraolo, M. Martini, D. Monteyne, E. De Luca, G. Germena, Y. Posor, T. Maffucci, S. Marengo, V. Haucke, M. Falasca, D. Perez-Morga, A. Boletta, G.R. Merlo, and E. Hirsch PI3K class II alpha controls spatially restricted endosomal PtdIns3P and Rab11 activation to promote primary cilium function Dev. Cell 28 2014 647 658 10.1016/j.devcel.2014.01.022
151. R. Jin, Z. Song, S. Yu, A. Piazza, A. Nanda, J.M. Penninger, D.N. Granger, and G. Li Phosphatidylinositol-3-kinase gamma plays a central role in blood-brain barrier dysfunction in acute experimental stroke Stroke 42 2011 2033 2044 10.1161/STROKEAHA.110.601369
152. J.I. Kim, H.R. Lee, S.E. Sim, J. Baek, N.K. Yu, J.H. Choi, H.G. Ko, Y.S. Lee, S.W. Park, C. Kwak, S.J. Ahn, S.Y. Choi, H. Kim, K.H. Kim, P.H. Backx, C.A. Bradley, E. Kim, D.J. Jang, K. Lee, S.J. Kim, M. Zhuo, G.L. Collingridge, and B.K. Kaang PI3Kgamma is required for NMDA receptor-dependent long-term depression and behavioral flexibility Nat. Neurosci. 14 2011 1447 1454 10.1038/nn.2937
153. H. Li, D. Park, P.M. Abdul-Muneer, B. Xu, H. Wang, B. Xing, D. Wu, and S. Li PI3Kgamma inhibition alleviates symptoms and increases axon number in experimental autoimmune encephalomyelitis mice Neuroscience 253 2013 89 99 10.1016/j.neuroscience.2013.08.051
154. C. Gross, and G.J. Bassell Neuron-specific regulation of class I PI3K catalytic subunits and their dysfunction in brain disorders Front. Mol. Neurosci. 7 2014 12 10.3389/fnmol.2014.00012
155. C. Gross, and G.J. Bassell Excess protein synthesis in FXS patient lymphoblastoid cells can be rescued with a p110beta-selective inhibitor Mol. Med. 18 2012 336 345 10.2119/molmed.2011.00363
156. C. Gross, M. Nakamoto, X. Yao, C.B. Chan, S.Y. Yim, K. Ye, S.T. Warren, and G.J. Bassell Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome J. Neurosci. 30 2010 10624 10638 10.1523/JNEUROSCI. 0402-10.2010
157. L. Hou, and E. Klann Activation of the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin signaling pathway is required for metabotropic glutamate receptor-dependent long-term depression J. Neurosci. 24 2004 6352 6361 10.1523/JNEUROSCI. 0995-04.2004
158. Y. Wang, A. Cheng, and M.P. Mattson The PTEN phosphatase is essential for long-term depression of hippocampal synapses Neruomol. Med. 8 2006 329 336 10.1385/NMM:8:3:329
159. K. Yokoyama, T. Tezuka, M. Kotani, T. Nakazawa, N. Hoshina, Y. Shimoda, S. Kakuta, K. Sudo, K. Watanabe, Y. Iwakura, and T. Yamamoto NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons EMBO J. 30 2011 4739 4754 10.1038/emboj.2011.348
160. D.J. Hernandez-Deviez, J.E. Casanova, and J.M. Wilson Regulation of dendritic development by the ARF exchange factor ARNO Nat. Neurosci. 5 2002 623 624 10.1038/nn865
161. N. Snaidero, W. Mobius, T. Czopka, L.H. Hekking, C. Mathisen, D. Verkleij, S. Goebbels, J. Edgar, D. Merkler, D.A. Lyons, K.A. Nave, and M. Simons Myelin membrane wrapping of CNS axons by PI(3,4,5)P3-dependent polarized growth at the inner tongue Cell 156 2014 277 290 10.1016/j.cell.2013.11.044
162. R.E. Clark Jr., W.K. Miskimins, and R. Miskimins Phosphatidylinositol-3 kinase p85 enhances expression from the myelin basic protein promoter in oligodendrocytes J. Neurochem. 83 2002 565 573
163. M.L. De Paula, Q.L. Cui, S. Hossain, J. Antel, and G. Almazan The PTEN inhibitor bisperoxovanadium enhances myelination by amplifying IGF-1 signaling in rat and human oligodendrocyte progenitors Glia 62 2014 64 77 10.1002/glia.22584
164. M.M. Fraser, I.T. Bayazitov, S.S. Zakharenko, and S.J. Baker Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities Neuroscience 151 2008 476 488 10.1016/j.neuroscience.2007.10.048
165. P. Maurel, and J.L. Salzer Axonal regulation of Schwann cell proliferation and survival and the initial events of myelination requires PI 3-kinase activity J. Neurosci. 20 2000 4635 4645
166. C.B. Chan, X. Liu, L. Zhao, G. Liu, C.W. Lee, Y. Feng, and K. Ye PIKE is essential for oligodendroglia development and CNS myelination Proc. Natl. Acad. Sci. U. S. A. 111 2014 1993 1998 10.1073/pnas.1318185111
167. R. Fledrich, R.M. Stassart, A. Klink, L.M. Rasch, T. Prukop, L. Haag, D. Czesnik, T. Kungl, T.A. Abdelaal, N. Keric, C. Stadelmann, W. Bruck, K.A. Nave, and M.W. Sereda Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A Nat. Med. 20 2014 1055 1061 10.1038/nm.3664
168. S. Goebbels, J.H. Oltrogge, R. Kemper, I. Heilmann, I. Bormuth, S. Wolfer, S.P. Wichert, W. Mobius, X. Liu, C. Lappe-Siefke, M.J. Rossner, M. Groszer, U. Suter, J. Frahm, S. Boretius, and K.A. Nave Elevated phosphatidylinositol 3,4,5-trisphosphate in glia triggers cell-autonomous membrane wrapping and myelination J. Neurosci. 30 2010 8953 8964 10.1523/JNEUROSCI. 0219-10.2010
169. S. Goebbels, J.H. Oltrogge, S. Wolfer, G.L. Wieser, T. Nientiedt, A. Pieper, T. Ruhwedel, M. Groszer, M.W. Sereda, and K.A. Nave Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy EMBO Mol. Med. 4 2012 486 499 10.1002/emmm.201200227
170. F. Lebrun-Julien, L. Bachmann, C. Norrmen, M. Trotzmuller, H. Kofeler, M.A. Ruegg, M.N. Hall, and U. Suter Balanced mTORC1 activity in oligodendrocytes is required for accurate CNS myelination J. Neurosci. 34 2014 8432 8448 10.1523/JNEUROSCI. 1105-14.2014
171. S.P. Narayanan, A.I. Flores, F. Wang, and W.B. Macklin Akt signals through the mammalian target of rapamycin pathway to regulate CNS myelination J. Neurosci. 29 2009 6860 6870 10.1523/JNEUROSCI. 0232-09.2009
172. A.A. Ng, A.M. Logan, E.J. Schmidt, and F.L. Robinson The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression Hum. Mol. Genet. 22 2013 1493 1506 10.1093/hmg/dds562
173. C. Norrmen, G. Figlia, F. Lebrun-Julien, J.A. Pereira, M. Trotzmuller, H.C. Kofeler, V. Rantanen, C. Wessig, A.L. van Deijk, A.B. Smit, M.H. Verheijen, M.A. Ruegg, M.N. Hall, and U. Suter mTORC1 controls PNS myelination along the mTORC1-RXRgamma-SREBP-lipid biosynthesis axis in Schwann cells Cell Rep. 2014 10.1016/j.celrep.2014.09.001
174. C. Norrmen, and U. Suter Akt/mTOR signalling in myelination Biochem. Soc. Trans. 41 2013 944 950 10.1042/BST20130046
175. C.L. Walker, and X.M. Xu PTEN inhibitor bisperoxovanadium protects oligodendrocytes and myelin and prevents neuronal atrophy in adult rats following cervical hemicontusive spinal cord injury Neurosci. Lett. 573 2014 64 68 10.1016/j.neulet.2014.02.039
176. J.H. Lee, M. Huynh, J.L. Silhavy, S. Kim, T. Dixon-Salazar, A. Heiberg, E. Scott, V. Bafna, K.J. Hill, A. Collazo, V. Funari, C. Russ, S.B. Gabriel, G.W. Mathern, and J.G. Gleeson De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly Nat. Genet. 44 2012 941 945 10.1038/ng.2329
177. G. Mirzaa, R. Conway, J.M. Graham, and W.B. Dobyns PIK3CA-related segmental overgrowth R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens, GeneReviews(R) 1993 (Seattle (WA)) http://www.ncbi.nlm.nih.gov/books/NBK1116/
178. G.M. Mirzaa, J.B. Riviere, and W.B. Dobyns Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP Am. J. Med. Genet. C: Semin. Med. Genet. 163C 2013 122 130 10.1002/ajmg.c.31361
179. A. Poduri, G.D. Evrony, X. Cai, P.C. Elhosary, R. Beroukhim, M.K. Lehtinen, L.B. Hills, E.L. Heinzen, A. Hill, R.S. Hill, B.J. Barry, B.F. Bourgeois, J.J. Riviello, A.J. Barkovich, P.M. Black, K.L. Ligon, and C.A. Walsh Somatic activation of AKT3 causes hemispheric developmental brain malformations Neuron 74 2012 41 48 10.1016/j.neuron.2012.03.010
180. J.B. Riviere, G.M. Mirzaa, B.J. O'Roak, M. Beddaoui, D. Alcantara, R.L. Conway, J. St-Onge, J.A. Schwartzentruber, K.W. Gripp, S.M. Nikkel, T. Worthylake, C.T. Sullivan, T.R. Ward, H.E. Butler, N.A. Kramer, B. Albrecht, C.M. Armour, L. Armstrong, O. Caluseriu, C. Cytrynbaum, B.A. Drolet, A.M. Innes, J.L. Lauzon, A.E. Lin, G.M. Mancini, W.S. Meschino, J.D. Reggin, A.K. Saggar, T. Lerman-Sagie, G. Uyanik, R. Weksberg, B. Zirn, C.L. Beaulieu, Finding of Rare Disease Genes Canada C, J. Majewski, D.E. Bulman, M. O'Driscoll, J. Shendure, J.M. Graham Jr., K.M. Boycott, and W.B. Dobyns De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Nat. Genet. 44 2012 934 940 10.1038/ng.2331
181. S.T. Baek, E.M. Gibbs, J.G. Gleeson, and G.W. Mathern Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders Curr. Opin. Neurol. 26 2013 122 127 10.1097/WCO.0b013e32835ef373
182. D. Wang, S. Zeesman, M.A. Tarnopolsky, and M.J. Nowaczyk Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44 Am. J. Med. Genet. A 161A 2013 2016 2019 10.1002/ajmg.a.35999
183. Q.B. She, S. Chandarlapaty, Q. Ye, J. Lobo, K.M. Haskell, K.R. Leander, D. DeFeo-Jones, H.E. Huber, and N. Rosen Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling PLoS ONE 3 2008 e3065 10.1371/journal.pone.0003065
184. Y. Bozzi, S. Casarosa, and M. Caleo Epilepsy as a neurodevelopmental disorder Front. Psychiatry 3 2012 19 10.3389/fpsyt.2012.00019
185. J.D. Carpten, A.L. Faber, C. Horn, G.P. Donoho, S.L. Briggs, C.M. Robbins, G. Hostetter, S. Boguslawski, T.Y. Moses, S. Savage, M. Uhlik, A. Lin, J. Du, Y.W. Qian, D.J. Zeckner, G. Tucker-Kellogg, J. Touchman, K. Patel, S. Mousses, M. Bittner, R. Schevitz, M.H. Lai, K.L. Blanchard, and J.E. Thomas A transforming mutation in the pleckstrin homology domain of AKT1 in cancer Nature 448 2007 439 444 10.1038/nature05933 (nature05933 [pii])
186. G.M. Mirzaa, D.A. Parry, A.E. Fry, K.A. Giamanco, J. Schwartzentruber, M. Vanstone, C.V. Logan, N. Roberts, C.A. Johnson, S. Singh, S.S. Kholmanskikh, C. Adams, R.D. Hodge, R.F. Hevner, D.T. Bonthron, K.P. Braun, L. Faivre, J.B. Riviere, J. St-Onge, K.W. Gripp, G.M. Mancini, K. Pang, E. Sweeney, H. van Esch, N. Verbeek, D. Wieczorek, M. Steinraths, J. Majewski, F.C. Consortium, K.M. Boycott, D.T. Pilz, M.E. Ross, W.B. Dobyns, and E.G. Sheridan De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Nat. Genet. 46 2014 510 515 10.1038/ng.2948
187. R.M. Easton, H. Cho, K. Roovers, D.W. Shineman, M. Mizrahi, M.S. Forman, V.M. Lee, M. Szabolcs, R. de Jong, T. Oltersdorf, T. Ludwig, A. Efstratiadis, and M.J. Birnbaum Role for Akt3/protein kinase Bgamma in attainment of normal brain size Mol. Cell. Biol. 25 2005 1869 1878 10.1128/MCB. 25.5.1869-1878.2005
188. O. Tschopp, Z.Z. Yang, D. Brodbeck, B.A. Dummler, M. Hemmings-Mieszczak, T. Watanabe, T. Michaelis, J. Frahm, and B.A. Hemmings Essential role of protein kinase B gamma (PKB gamma/Akt3) in postnatal brain development but not in glucose homeostasis Development 132 2005 2943 2954 10.1242/dev.01864
189. E. Boland, J. Clayton-Smith, V.G. Woo, S. McKee, F.D. Manson, L. Medne, E. Zackai, E.A. Swanson, D. Fitzpatrick, K.J. Millen, E.H. Sherr, W.B. Dobyns, and G.C. Black Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum Am. J. Hum. Genet. 81 2007 292 303 10.1086/519999
190. M.G. Butler, M.J. Dasouki, X.P. Zhou, Z. Talebizadeh, M. Brown, T.N. Takahashi, J.H. Miles, C.H. Wang, R. Stratton, R. Pilarski, and C. Eng Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations J. Med. Genet. 42 2005 318 321 10.1136/jmg.2004.024646
191. A. Nystuen, M.E. Legare, L.D. Shultz, and W.N. Frankel A null mutation in inositol polyphosphate 4-phosphatase type I causes selective neuronal loss in weeble mutant mice Neuron 32 2001 203 212
192. J. Sasaki, S. Kofuji, R. Itoh, T. Momiyama, K. Takayama, H. Murakami, S. Chida, Y. Tsuya, S. Takasuga, S. Eguchi, K. Asanuma, Y. Horie, K. Miura, E.M. Davies, C. Mitchell, M. Yamazaki, H. Hirai, T. Takenawa, A. Suzuki, and T. Sasaki The PtdIns(3,4)P(2) phosphatase INPP4A is a suppressor of excitotoxic neuronal death Nature 465 2010 497 501 10.1038/nature09023
193. R. Sheffer, O. Bennett-Back, B. Yaacov, S. Edvardson, M. Gomori, M. Werner, D. Fahham, I. Anteby, A. Frumkin, V. Meiner, and O. Elpeleg Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene Neurogenetics 2014 10.1007/s10048-014-0428-7
194. L. Wang, J. Luo, M. Fang, G. Jiang, X. Zhang, W. Yu, and X. Wang A new trick of INPP4A: decreased expression of INPP4A in patients with temporal lobe epilepsy and pilocarpine-induced rat model Synapse 66 2012 533 541 10.1002/syn.21540
195. A.S. Galanopoulou, J.A. Gorter, and C. Cepeda Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target Epilepsia 53 2012 1119 1130 10.1111/j.1528-1167.2012.03506.x
196. X. Huang, H. Zhang, J. Yang, J. Wu, J. McMahon, Y. Lin, Z. Cao, M. Gruenthal, and Y. Huang Pharmacological inhibition of the mammalian target of rapamycin pathway suppresses acquired epilepsy Neurobiol. Dis. 40 2010 193 199 10.1016/j.nbd.2010.05.024
197. R.Y. Pun, I.J. Rolle, C.L. Lasarge, B.E. Hosford, J.M. Rosen, J.D. Uhl, S.N. Schmeltzer, C. Faulkner, S.L. Bronson, B.L. Murphy, D.A. Richards, K.D. Holland, and S.C. Danzer Excessive activation of mTOR in postnatally generated granule cells is sufficient to cause epilepsy Neuron 75 2012 1022 1034 10.1016/j.neuron.2012.08.002
198. V. Schick, M. Majores, G. Engels, S. Spitoni, A. Koch, C.E. Elger, M. Simon, C. Knobbe, I. Blumcke, and A.J. Becker Activation of Akt independent of PTEN and CTMP tumor-suppressor gene mutations in epilepsy-associated Taylor-type focal cortical dysplasias Acta Neuropathol. 112 2006 715 725 10.1007/s00401-006-0128-y
199. M.C. Weston, H. Chen, and J.W. Swann Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures Front. Mol. Neurosci. 7 2014 1 10.3389/fnmol.2014.00001
200. J.D. Buxbaum, G. Cai, P. Chaste, G. Nygren, J. Goldsmith, J. Reichert, H. Anckarsater, M. Rastam, C.J. Smith, J.M. Silverman, E. Hollander, M. Leboyer, C. Gillberg, A. Verloes, and C. Betancur Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B 2007 484 491 10.1002/ajmg.b.30493
201. K.L. McBride, E.A. Varga, M.T. Pastore, T.W. Prior, K. Manickam, J.F. Atkin, and G.E. Herman Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly Autism Res. 3 2010 137 141 10.1002/aur.132
202. A. Orrico, L. Galli, S. Buoni, A. Orsi, G. Vonella, and V. Sorrentino Novel PTEN mutations in neurodevelopmental disorders and macrocephaly Clin. Genet. 75 2009 195 198 10.1111/j.1399-0004.2008.01074.x
203. E.A. Varga, M. Pastore, T. Prior, G.E. Herman, and K.L. McBride The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly Genet. Med. 11 2009 111 117 10.1097/GIM.0b013e31818fd762
204. P. Chang, M.C. Walker, and R.S. Williams Seizure-induced reduction in PIP3 levels contributes to seizure-activity and is rescued by valproic acid Neurobiol. Dis. 62 2014 296 306 10.1016/j.nbd.2013.10.017
205. A. Granados, C. Eng, and A. Diaz Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy J. Pediatr. Endocrinol. Metab. 26 2013 137 141 10.1515/jpem-2012-0227
206. R. Pilarski, R. Burt, W. Kohlman, L. Pho, K.M. Shannon, and E. Swisher Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria J. Natl. Cancer Inst. 105 2013 1607 1616 10.1093/jnci/djt277
207. M.S. Orloff, X. He, C. Peterson, F. Chen, J.L. Chen, J.L. Mester, and C. Eng Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes Am. J. Hum. Genet. 92 2013 76 80 10.1016/j.ajhg.2012.10.021
208. K.L. Lachlan Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes J. Natl. Cancer Inst. 105 2013 1595 1597 10.1093/jnci/djt290
209. J.V. Schaffer, H. Kamino, A. Witkiewicz, J.M. McNiff, and S.J. Orlow Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome Arch. Dermatol. 142 2006 625 632 10.1001/archderm.142.5.625
210. F.E. Bleeker, S. Lamba, C. Zanon, R.J. Molenaar, T.J. Hulsebos, D. Troost, A.A. van Tilborg, W.P. Vandertop, S. Leenstra, C.J. van Noorden, and A. Bardelli Mutational profiling of kinases in glioblastoma BMC Cancer 14 2014 718 10.1186/1471-2407-14-718
211. S.A. Backman, V. Stambolic, A. Suzuki, J. Haight, A. Elia, J. Pretorius, M.S. Tsao, P. Shannon, B. Bolon, G.O. Ivy, and T.W. Mak Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease Nat. Genet. 29 2001 396 403 10.1038/ng782
212. K.A. McDowell, G.J. Riggins, and G.L. Gallia Targeting the AKT pathway in glioblastoma Curr. Pharm. Des. 17 2011 2411 2420
213. J.R. Molina, N.K. Agarwal, F.C. Morales, Y. Hayashi, K.D. Aldape, G. Cote, and M.M. Georgescu PTEN, NHERF1 and PHLPP form a tumor suppressor network that is disabled in glioblastoma Oncogene 31 2012 1264 1274 10.1038/onc.2011.324
214. G. Roversi, R. Pfundt, R.F. Moroni, I. Magnani, S. van Reijmersdal, B. Pollo, H. Straatman, L. Larizza, and E.F. Schoenmakers Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines Oncogene 25 2006 1571 1583 10.1038/sj.onc.1209177
215. P.A. Steck, M.A. Pershouse, S.A. Jasser, W.K. Yung, H. Lin, A.H. Ligon, L.A. Langford, M.L. Baumgard, T. Hattier, T. Davis, C. Frye, R. Hu, B. Swedlund, D.H. Teng, and S.V. Tavtigian Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers Nat. Genet. 15 1997 356 362 10.1038/ng0497-356
216. W.Z. Xiao, D.H. Han, F. Wang, Y.Q. Wang, Y.H. Zhu, Y.F. Wu, N.T. Liu, and J.Y. Sun Relationships between PTEN gene mutations and prognosis in glioma: a meta-analysis Tumour Biol. 35 2014 6687 6693 10.1007/s13277-014-1885-1
217. X. Guan, J. Vengoechea, S. Zheng, A.E. Sloan, Y. Chen, D.J. Brat, B.P. O'Neill, J. de Groot, S. Yust-Katz, W.K. Yung, M.L. Cohen, K.D. Aldape, S. Rosenfeld, R.G. Verhaak, and J.S. Barnholtz-Sloan Molecular subtypes of glioblastoma are relevant to lower grade glioma PLoS ONE 9 2014 e91216 10.1371/journal.pone.0091216
218. K. Ichimura, E.E. Schmidt, A. Miyakawa, H.M. Goike, and V.P. Collins Distinct patterns of deletion on 10p and 10q suggest involvement of multiple tumor suppressor genes in the development of astrocytic gliomas of different malignancy grades Genes Chromosomes Cancer 22 1998 9 15
219. A. Sottoriva, I. Spiteri, S.G. Piccirillo, A. Touloumis, V.P. Collins, J.C. Marioni, C. Curtis, C. Watts, and S. Tavare Intratumor heterogeneity in human glioblastoma reflects cancer evolutionary dynamics Proc. Natl. Acad. Sci. U. S. A. 110 2013 4009 4014 10.1073/pnas.1219747110
220. S.I. Wang, J. Puc, J. Li, J.N. Bruce, P. Cairns, D. Sidransky, and R. Parsons Somatic mutations of PTEN in glioblastoma multiforme Cancer Res. 57 1997 4183 4186
221. J. Adachi, K. Ohbayashi, T. Suzuki, and T. Sasaki Cell cycle arrest and astrocytic differentiation resulting from PTEN expression in glioma cells J. Neurosurg. 91 1999 822 830 10.3171/jns.1999.91.5.0822
222. M.M. Fraser, X. Zhu, C.H. Kwon, E.J. Uhlmann, D.H. Gutmann, and S.J. Baker Pten loss causes hypertrophy and increased proliferation of astrocytes in vivo Cancer Res. 64 2004 7773 7779 10.1158/0008-5472.CAN-04-2487
223. M. Groszer, R. Erickson, D.D. Scripture-Adams, R. Lesche, A. Trumpp, J.A. Zack, H.I. Kornblum, X. Liu, and H. Wu Negative regulation of neural stem/progenitor cell proliferation by the Pten tumor suppressor gene in vivo Science 294 2001 2186 2189 10.1126/science.1065518
224. C. Gregorian, J. Nakashima, J. Le Belle, J. Ohab, R. Kim, A. Liu, K.B. Smith, M. Groszer, A.D. Garcia, M.V. Sofroniew, S.T. Carmichael, H.I. Kornblum, X. Liu, and H. Wu Pten deletion in adult neural stem/progenitor cells enhances constitutive neurogenesis J. Neurosci. 29 2009 1874 1886 10.1523/JNEUROSCI. 3095-08.2009
225. L. Li, F. Liu, and A.H. Ross PTEN regulation of neural development and CNS stem cells J. Cell. Biochem. 88 2003 24 28 10.1002/jcb.10312
226. S. Marino, P. Krimpenfort, C. Leung, H.A. van der Korput, J. Trapman, I. Camenisch, A. Berns, and S. Brandner PTEN is essential for cell migration but not for fate determination and tumourigenesis in the cerebellum Development 129 2002 3513 3522
227. A. Sakakibara, and A.F. Horwitz Mechanism of polarized protrusion formation on neuronal precursors migrating in the developing chicken cerebellum J. Cell Sci. 119 2006 3583 3592 10.1242/jcs.03080
228. Q. Yue, M. Groszer, J.S. Gil, A.J. Berk, A. Messing, H. Wu, and X. Liu PTEN deletion in Bergmann glia leads to premature differentiation and affects laminar organization Development 132 2005 3281 3291 10.1242/dev.01891
229. J.R. Molina, Y. Hayashi, C. Stephens, and M.M. Georgescu Invasive glioblastoma cells acquire stemness and increased Akt activation Neoplasia 12 2010 453 463
230. M. Sperow, R.B. Berry, I.T. Bayazitov, G. Zhu, S.J. Baker, and S.S. Zakharenko Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration J. Physiol. 590 2012 777 792 10.1113/jphysiol.2011.220236
231. C.L. Appin, and D.J. Brat Molecular genetics of gliomas Cancer J. 20 2014 66 72 10.1097/PPO.0000000000000020
232. C. Brennan, H. Momota, D. Hambardzumyan, T. Ozawa, A. Tandon, A. Pedraza, and E. Holland Glioblastoma subclasses can be defined by activity among signal transduction pathways and associated genomic alterations PLoS ONE 4 2009 e7752 10.1371/journal.pone.0007752
233. V. Frattini, V. Trifonov, J.M. Chan, A. Castano, M. Lia, F. Abate, S.T. Keir, A.X. Ji, P. Zoppoli, F. Niola, C. Danussi, I. Dolgalev, P. Porrati, S. Pellegatta, A. Heguy, G. Gupta, D.J. Pisapia, P. Canoll, J.N. Bruce, R.E. McLendon, H. Yan, K. Aldape, G. Finocchiaro, T. Mikkelsen, G.G. Prive, D.D. Bigner, A. Lasorella, R. Rabadan, and A. Iavarone The integrated landscape of driver genomic alterations in glioblastoma Nat. Genet. 45 2013 1141 1149 10.1038/ng.2734
234. D. Jesionek-Kupnicka, M. Szybka, P. Potemski, D. Kulczycka-Wojdala, D. Jaskolski, M. Bienkowski, W. Skowronski, W. Papierz, R. Kordek, and I. Zawlik Association of loss of heterozygosity with shorter survival in primary glioblastoma patients Pol. J. Pathol. 64 2013 268 275
235. B. Kalman, E. Szep, F. Garzuly, and D.E. Post Epidermal growth factor receptor as a therapeutic target in glioblastoma Neruomol. Med. 15 2013 420 434 10.1007/s12017-013-8229-y
236. D. Lotsch, E. Steiner, K. Holzmann, S. Spiegl-Kreinecker, C. Pirker, J. Hlavaty, H. Petznek, B. Hegedus, T. Garay, T. Mohr, W. Sommergruber, M. Grusch, and W. Berger Major vault protein supports glioblastoma survival and migration by upregulating the EGFR/PI3K signalling axis Oncotarget 4 2013 1904 1918
237. N. Sintupisut, P.L. Liu, and C.H. Yeang An integrative characterization of recurrent molecular aberrations in glioblastoma genomes Nucleic Acids Res. 41 2013 8803 8821 10.1093/nar/gkt656
238. J. Zhang, M.A. Antonyak, G. Singh, and R.A. Cerione A mechanism for the upregulation of EGF receptor levels in glioblastomas Cell Rep. 3 2013 2008 2020 10.1016/j.celrep.2013.05.021
239. A. Panner, C.A. Crane, C. Weng, A. Feletti, A.T. Parsa, and R.O. Pieper A novel PTEN-dependent link to ubiquitination controls FLIPS stability and TRAIL sensitivity in glioblastoma multiforme Cancer Res. 69 2009 7911 7916 10.1158/0008-5472.CAN-09-1287
240. J.M. Nigro, A. Misra, L. Zhang, I. Smirnov, H. Colman, C. Griffin, N. Ozburn, M. Chen, E. Pan, D. Koul, W.K. Yung, B.G. Feuerstein, and K.D. Aldape Integrated array-comparative genomic hybridization and expression array profiles identify clinically relevant molecular subtypes of glioblastoma Cancer Res. 65 2005 1678 1686 10.1158/0008-5472.CAN-04-2921
241. A. Olar, and K.D. Aldape Using the molecular classification of glioblastoma to inform personalized treatment J. Pathol. 232 2014 165 177 10.1002/path.4282
242. E. Carrasco-Garcia, M. Saceda, and I. Martinez-Lacaci Role of receptor tyrosine kinases and their ligands in glioblastoma Cells 3 2014 199 235 10.3390/cells3020199
243. J.M. Francis, C.Z. Zhang, C.L. Maire, J. Jung, V.E. Manzo, V.A. Adalsteinsson, H. Homer, S. Haidar, B. Blumenstiel, C.S. Pedamallu, A.H. Ligon, J.C. Love, M. Meyerson, and K.L. Ligon EGFR variant heterogeneity in glioblastoma resolved through single-nucleus sequencing Cancer Discov. 2014 10.1158/2159-8290.CD-13-0879
244. B.E. Johnson, T. Mazor, C. Hong, M. Barnes, K. Aihara, C.Y. McLean, S.D. Fouse, S. Yamamoto, H. Ueda, K. Tatsuno, S. Asthana, L.E. Jalbert, S.J. Nelson, A.W. Bollen, W.C. Gustafson, E. Charron, W.A. Weiss, I.V. Smirnov, J.S. Song, A.B. Olshen, S. Cha, Y. Zhao, R.A. Moore, A.J. Mungall, S.J. Jones, M. Hirst, M.A. Marra, N. Saito, H. Aburatani, A. Mukasa, M.S. Berger, S.M. Chang, B.S. Taylor, and J.F. Costello Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma Science 343 2014 189 193 10.1126/science.1239947
245. K.C. Lo, D. Bailey, T. Burkhardt, P. Gardina, Y. Turpaz, and J.K. Cowell Comprehensive analysis of loss of heterozygosity events in glioblastoma using the 100 K SNP mapping arrays and comparison with copy number abnormalities defined by BAC array comparative genomic hybridization Genes Chromosomes Cancer 47 2008 221 237 10.1002/gcc.20524
246. H.A. Luchman, O.D. Stechishin, S.A. Nguyen, X.Q. Lun, J.G. Cairncross, and S. Weiss Dual mTORC1/2 blockade inhibits glioblastoma brain tumor initiating cells in vitro and in vivo and synergizes with temozolomide to increase orthotopic xenograft survival Clin. Cancer Res. 2014 10.1158/1078-0432.CCR-13-3389
247. B. Wei, L. Wang, X. Zhao, Y. Jin, D. Kong, G. Hu, and Z. Sun Co-mutated pathways analysis highlights the coordination mechanism in glioblastoma multiforme Neoplasma 61 2014 424 432
248. E. Razis, P. Selviaridis, S. Labropoulos, J.L. Norris, M.J. Zhu, D.D. Song, T. Kalebic, M. Torrens, A. Kalogera-Fountzila, G. Karkavelas, S. Karanastasi, J.A. Fletcher, and G. Fountzilas Phase II study of neoadjuvant imatinib in glioblastoma: evaluation of clinical and molecular effects of the treatment Clin. Cancer Res. 15 2009 6258 6266 10.1158/1078-0432.CCR-08-1867
249. M. Vitucci, N.O. Karpinich, R.E. Bash, A.M. Werneke, R.S. Schmid, K.K. White, R.S. McNeill, B. Huff, S. Wang, T. Van Dyke, and C.R. Miller Cooperativity between MAPK and PI3K signaling activation is required for glioblastoma pathogenesis Neuro-Oncology 15 2013 1317 1329 10.1093/neuonc/not084
250. M. Fouladi, J.P. Perentesis, C.L. Phillips, S. Leary, J.M. Reid, R.M. McGovern, A.M. Ingle, C.H. Ahern, M.M. Ames, P. Houghton, L.A. Doyle, B. Weigel, and S.M. Blaney A phase I trial of MK-2206 in children with refractory malignancies: a Children's Oncology Group study Pediatr. Blood Cancer 61 2014 1246 1251 10.1002/pbc.25023
251. T.R. Fenton, D. Nathanson, C. Ponte de Albuquerque, D. Kuga, A. Iwanami, J. Dang, H. Yang, K. Tanaka, S.M. Oba-Shinjo, M. Uno, M.M. Inda, J. Wykosky, R.M. Bachoo, C.D. James, R.A. DePinho, S.R. Vandenberg, H. Zhou, S.K. Marie, P.S. Mischel, W.K. Cavenee, and F.B. Furnari Resistance to EGF receptor inhibitors in glioblastoma mediated by phosphorylation of the PTEN tumor suppressor at tyrosine 240 Proc. Natl. Acad. Sci. U. S. A. 109 2012 14164 14169 10.1073/pnas.1211962109
252. K. Holand, D. Boller, C. Hagel, S. Dolski, A. Treszl, O.E. Pardo, P. Cwiek, F. Salm, Z. Leni, P.R. Shepherd, B. Styp-Rekowska, V. Djonov, A.O. von Bueren, K. Frei, and A. Arcaro Targeting class IA PI3K isoforms selectively impairs cell growth, survival, and migration in glioblastoma PLoS ONE 9 2014 e94132 10.1371/journal.pone.0094132 (PONE-D-13-26083 [pii])
253. M.M. Lino, and A. Merlo PI3Kinase signaling in glioblastoma J. Neurooncol. 103 2011 417 427 10.1007/s11060-010-0442-z
254. A.S. Guerreiro, S. Fattet, D.W. Kulesza, A. Atamer, A.N. Elsing, T. Shalaby, S.P. Jackson, S.M. Schoenwaelder, M.A. Grotzer, O. Delattre, and A. Arcaro A sensitized RNA interference screen identifies a novel role for the PI3K p110gamma isoform in medulloblastoma cell proliferation and chemoresistance Mol. Cancer Res. 9 2011 925 935 10.1158/1541-7786.MCR-10-0200 (1541-7786.MCR-10-0200 [pii])
255. D.K. Broderick, C. Di, T.J. Parrett, Y.R. Samuels, J.M. Cummins, R.E. McLendon, D.W. Fults, V.E. Velculescu, D.D. Bigner, and H. Yan Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas Cancer Res. 64 2004 5048 5050 10.1158/0008-5472.CAN-04-1170
256. A.J. McCartney, Y. Zhang, and L.S. Weisman Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance Bioessays 36 2014 52 64 10.1002/bies.201300012
257. O.C. Ikonomov, D. Sbrissa, H. Fenner, and A. Shisheva PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis J. Biol. Chem. 284 2009 35794 35806 10.1074/jbc.M109.037515
258. O.C. Ikonomov, D. Sbrissa, J. Fligger, K. Delvecchio, and A. Shisheva ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4 J disorder J. Biol. Chem. 285 2010 26760 26764 10.1074/jbc.C110.154658
259. O.C. Ikonomov, D. Sbrissa, M. Foti, J.L. Carpentier, and A. Shisheva PIKfyve controls fluid phase endocytosis but not recycling/degradation of endocytosed receptors or sorting of procathepsin D by regulating multivesicular body morphogenesis Mol. Biol. Cell 14 2003 4581 4591 10.1091/mbc.E03-04-0222
260. O.C. Ikonomov, D. Sbrissa, K. Mlak, R. Deeb, J. Fligger, A. Soans, R.L. Finley Jr., and A. Shisheva Active PIKfyve associates with and promotes the membrane attachment of the late endosome-to-trans-Golgi network transport factor Rab9 effector p40 J. Biol. Chem. 278 2003 50863 50871 10.1074/jbc.M307260200
261. O.C. Ikonomov, D. Sbrissa, and A. Shisheva Localized PtdIns 3,5-P2 synthesis to regulate early endosome dynamics and fusion Am. J. Physiol. Cell Physiol. 291 2006 C393 C404 10.1152/ajpcell.00019.2006
262. D. Sbrissa, O.C. Ikonomov, H. Fenner, and A. Shisheva ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality J. Mol. Biol. 384 2008 766 779 10.1016/j.jmb.2008.10.009
263. D. Sbrissa, O.C. Ikonomov, Z. Fu, T. Ijuin, J. Gruenberg, T. Takenawa, and A. Shisheva Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex J. Biol. Chem. 282 2007 23878 23891 10.1074/jbc.M611678200
264. K. Tsujita, T. Itoh, T. Ijuin, A. Yamamoto, A. Shisheva, J. Laporte, and T. Takenawa Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction J. Biol. Chem. 279 2004 13817 13824 10.1074/jbc.M312294200
265. J. Laporte, C. Guiraud-Chaumeil, M.C. Vincent, J.L. Mandel, S.M. Tanner, S. Liechti-Gallati, C. Wallgren-Pettersson, N. Dahl, W. Kress, P.A. Bolhuis, M. Fardeau, F. Samson, and E. Bertini Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center Hum. Mol. Genet. 6 1997 1505 1511
266. E.M. Davies, D.A. Sheffield, P. Tibarewal, C.G. Fedele, C.A. Mitchell, and N.R. Leslie The PTEN and Myotubularin phosphoinositide 3-phosphatases: linking lipid signalling to human disease Subcell. Biochem. 58 2012 281 336 10.1007/978-94-007-3012-0-8
267. L. Amoasii, K. Hnia, and J. Laporte Myotubularin phosphoinositide phosphatases in human diseases Curr. Top. Microbiol. Immunol. 362 2012 209 233 10.1007/978-94-007-5025-8-10
268. J.J. Winters, C.J. Ferguson, G.M. Lenk, V.I. Giger-Mateeva, P. Shrager, M.H. Meisler, and R.J. Giger Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4 J. Neurosci. 31 2011 17736 17751 10.1523/JNEUROSCI. 1482-11.2011
269. G.M. Lenk, and M.H. Meisler Mouse models of PI(3,5)P2 deficiency with impaired lysosome function Methods Enzymol. 534 2014 245 260 10.1016/B978-0-12-397926-1.00014-7
270. C.J. Ferguson, G.M. Lenk, and M.H. Meisler Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2 Hum. Mol. Genet. 18 2009 4868 4878 10.1093/hmg/ddp460
271. I. Vaccari, G. Dina, H. Tronchere, E. Kaufman, G. Chicanne, F. Cerri, L. Wrabetz, B. Payrastre, A. Quattrini, L.S. Weisman, M.H. Meisler, and A. Bolino Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies PLoS Genet. 7 2011 e1002319 10.1371/journal.pgen.1002319
272. P. Berger, I. Berger, C. Schaffitzel, K. Tersar, B. Volkmer, and U. Suter Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2 Hum. Mol. Genet. 15 2006 569 579 10.1093/hmg/ddi473
273. P. Berger, S. Bonneick, S. Willi, M. Wymann, and U. Suter Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1 Hum. Mol. Genet. 11 2002 1569 1579
274. P. Berger, C. Schaffitzel, I. Berger, N. Ban, and U. Suter Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module Proc. Natl. Acad. Sci. U. S. A. 100 2003 12177 12182 10.1073/pnas.2132732100
275. P. Berger, K. Tersar, K. Ballmer-Hofer, and U. Suter The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling J. Cell. Mol. Med. 15 2011 307 315 10.1111/j.1582-4934.2009.00967.x
276. F.L. Robinson, I.R. Niesman, K.K. Beiswenger, and J.E. Dixon Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice Proc. Natl. Acad. Sci. U. S. A. 105 2008 4916 4921 10.1073/pnas.0800742105
277. F.L. Robinson, and J.E. Dixon The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease J. Biol. Chem. 280 2005 31699 31707 10.1074/jbc.M505159200
278. J. Schaletzky, S.K. Dove, B. Short, O. Lorenzo, M.J. Clague, and F.A. Barr Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases Curr. Biol. 13 2003 504 509
279. C.Y. Chow, Y. Zhang, J.J. Dowling, N. Jin, M. Adamska, K. Shiga, K. Szigeti, M.E. Shy, J. Li, X. Zhang, J.R. Lupski, L.S. Weisman, and M.H. Meisler Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J Nature 448 2007 68 72 10.1038/nature05876
280. C.Y. Chow, J.E. Landers, S.K. Bergren, P.C. Sapp, A.E. Grant, J.M. Jones, L. Everett, G.M. Lenk, D.M. McKenna-Yasek, L.S. Weisman, D. Figlewicz, R.H. Brown, and M.H. Meisler Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS Am. J. Hum. Genet. 84 2009 85 88 10.1016/j.ajhg.2008.12.010
281. T. Kon, F. Mori, K. Tanji, Y. Miki, Y. Toyoshima, M. Yoshida, H. Sasaki, A. Kakita, H. Takahashi, and K. Wakabayashi ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases Neuropathology 34 2014 19 26 10.1111/neup.12056
282. C. Martyn, and J. Li Fig4 deficiency: a newly emerged lysosomal storage disorder? Prog. Neurobiol. 101-102 2013 35 45 10.1016/j.pneurobio.2012.11.001
283. S.E. Conduit, J.M. Dyson, and C.A. Mitchell Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies FEBS Lett. 586 2012 2846 2857 10.1016/j.febslet.2012.07.037
284. M.C. Humbert, K. Weihbrecht, C.C. Searby, Y. Li, R.M. Pope, V.C. Sheffield, and S. Seo ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting Proc. Natl. Acad. Sci. U. S. A. 109 2012 19691 19696 10.1073/pnas.1210916109
285. H. Ishikawa, J. Thompson, J.R. Yates III, and W.F. Marshall Proteomic analysis of mammalian primary cilia Curr. Biol. 22 2012 414 419 10.1016/j.cub.2012.01.031
286. J.A. Green, and K. Mykytyn Neuronal primary cilia: an underappreciated signaling and sensory organelle in the brain Neuropsychopharmacology 39 2014 244 245 10.1038/npp.2013.203
287. L. Mandl, and R. Megele Primary cilia in normal human neocortical neurons Z. Mikrosk. Anat. Forsch. 103 1989 425 430
288. A. Guemez-Gamboa, N.G. Coufal, and J.G. Gleeson Primary cilia in the developing and mature brain Neuron 82 2014 511 521 10.1016/j.neuron.2014.04.024
289. A. Louvi, and E.A. Grove Cilia in the CNS: the quiet organelle claims center stage Neuron 69 2011 1046 1060 10.1016/j.neuron.2011.03.002
290. P.G. DeCaen, M. Delling, T.N. Vien, and D.E. Clapham Direct recording and molecular identification of the calcium channel of primary cilia Nature 504 2013 315 318 10.1038/nature12832
291. M. Delling, P.G. DeCaen, J.F. Doerner, S. Febvay, and D.E. Clapham Primary cilia are specialized calcium signalling organelles Nature 504 2013 311 314 10.1038/nature12833
292. K. Yoshimura, and S. Takeda Hedgehog signaling regulates myelination in the peripheral nervous system through primary cilia Differentiation 83 2012 S78 S85 10.1016/j.diff.2011.10.006
293. Y.G. Han, N. Spassky, M. Romaguera-Ros, J.M. Garcia-Verdugo, A. Aguilar, S. Schneider-Maunoury, and A. Alvarez-Buylla Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells Nat. Neurosci. 11 2008 277 284 10.1038/nn2059
294. H. Higginbotham, J. Guo, Y. Yokota, N.L. Umberger, C.Y. Su, J. Li, N. Verma, J. Hirt, V. Ghukasyan, T. Caspary, and E.S. Anton Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation Nat. Neurosci. 16 2013 1000 1007 10.1038/nn.3451
295. S.M. Guadiana, S. Semple-Rowland, D. Daroszewski, I. Madorsky, J.J. Breunig, K. Mykytyn, and M.R. Sarkisian Arborization of dendrites by developing neocortical neurons is dependent on primary cilia and type 3 adenylyl cyclase J. Neurosci. 33 2013 2626 2638 10.1523/JNEUROSCI. 2906-12.2013
296. H. Higginbotham, T.Y. Eom, L.E. Mariani, A. Bachleda, J. Hirt, V. Gukassyan, C.L. Cusack, C. Lai, T. Caspary, and E.S. Anton Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex Dev. Cell 23 2012 925 938 10.1016/j.devcel.2012.09.019
297. E.M. Valente, R.O. Rosti, E. Gibbs, and J.G. Gleeson Primary cilia in neurodevelopmental disorders Nat. Rev. Neurol. 10 2014 27 36 10.1038/nrneurol.2013.247
298. G. Juric-Sekhar, J. Adkins, D. Doherty, and R.F. Hevner Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia Acta Neuropathol. 123 2012 695 709 10.1007/s00401-012-0951-2
299. S.L. Bielas, J.L. Silhavy, F. Brancati, M.V. Kisseleva, L. Al-Gazali, L. Sztriha, R.A. Bayoumi, M.S. Zaki, A. Abdel-Aleem, R.O. Rosti, H. Kayserili, D. Swistun, L.C. Scott, E. Bertini, E. Boltshauser, E. Fazzi, L. Travaglini, S.J. Field, S. Gayral, M. Jacoby, S. Schurmans, B. Dallapiccola, P.W. Majerus, E.M. Valente, and J.G. Gleeson Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies Nat. Genet. 41 2009 1032 1036 10.1038/ng.423
300. L. Travaglini, F. Brancati, J. Silhavy, M. Iannicelli, E. Nickerson, N. Elkhartoufi, E. Scott, E. Spencer, S. Gabriel, S. Thomas, B. Ben-Zeev, E. Bertini, E. Boltshauser, M. Chaouch, M.R. Cilio, M.M. de Jong, H. Kayserili, G. Ogur, A. Poretti, S. Signorini, G. Uziel, M.S. Zaki, J.S.G. International, C. Johnson, T. Attie-Bitach, J.G. Gleeson, and E.M. Valente Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders Eur. J. Hum. Genet. 21 2013 1074 1078 10.1038/ejhg.2012.305
301. S. Thomas, K.J. Wright, S. Le Corre, A. Micalizzi, M. Romani, A. Abhyankar, J. Saada, I. Perrault, J. Amiel, J. Litzler, E. Filhol, N. Elkhartoufi, M. Kwong, J.L. Casanova, N. Boddaert, W. Baehr, S. Lyonnet, A. Munnich, L. Burglen, N. Chassaing, F. Encha-Ravazi, M. Vekemans, J.G. Gleeson, E.M. Valente, P.K. Jackson, I.A. Drummond, S. Saunier, and T. Attie-Bitach A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium Hum. Mutat. 35 2014 137 146 10.1002/humu.22470
302. M. Jacoby, J.J. Cox, S. Gayral, D.J. Hampshire, M. Ayub, M. Blockmans, E. Pernot, M.V. Kisseleva, P. Compere, S.N. Schiffmann, F. Gergely, J.H. Riley, D. Perez-Morga, C.G. Woods, and S. Schurmans INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse Nat. Genet. 41 2009 1027 1031 10.1038/ng.427
303. M. Mapstone, A.K. Cheema, and M.S. Fiandaca Plasma phospholipids identify antecedent memory impairment in older adults 20 2014 415 418 10.1038/nm.3466
304. Y. Sonoda, H. Mukai, K. Matsuo, M. Takahashi, Y. Ono, K. Maeda, H. Akiyama, and T. Kawamata Accumulation of tumor-suppressor PTEN in Alzheimer neurofibrillary tangles Neurosci. Lett. 471 2010 20 24 10.1016/j.neulet.2009.12.078
305. T. Nishikawa, T. Takahashi, M. Nakamori, Y. Yamazaki, T. Kurashige, Y. Nagano, Y. Nishida, Y. Izumi, and M. Matsumoto Phosphatidylinositol-4,5-bisphosphate is enriched in granulovacuolar degeneration bodies and neurofibrillary tangles Neuropathol. Appl. Neurobiol. 40 2014 489 501 10.1111/nan.12056
306. J. Jolles, J. Bothmer, M. Markerink, and R. Ravid Phosphatidylinositol kinase is reduced in Alzheimer's disease J. Neurochem. 58 1992 2326 2329
307. J. Jolles, J. Bothmer, M. Markerink, and R. Ravid Reduced phosphatidylinositol kinase activity in Alzheimer's disease: effects of age and onset Dementia 4 1993 81 86
308. N. Landman, S.Y. Jeong, S.Y. Shin, S.V. Voronov, G. Serban, M.S. Kang, M.K. Park, G. Di Paolo, S. Chung, and T.W. Kim Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism Proc. Natl. Acad. Sci. U. S. A. 103 2006 19524 19529 10.1073/pnas.0604954103
309. J. Bothmer, M. Markerink, and J. Jolles Phosphoinositide kinase activities in synaptosomes prepared from brains of patients with Alzheimer's disease and controls Neurosci. Lett. 176 1994 169 172
310. A. Rickle, N. Bogdanovic, I. Volkmann, X. Zhou, J.J. Pei, B. Winblad, and R.F. Cowburn PTEN levels in Alzheimer's disease medial temporal cortex Neurochem. Int. 48 2006 114 123 10.1016/j.neuint.2005.08.014
311. X. Zhang, F. Li, A. Bulloj, Y.W. Zhang, G. Tong, Z. Zhang, F.F. Liao, and H. Xu Tumor-suppressor PTEN affects tau phosphorylation, aggregation, and binding to microtubules FASEB J. 20 2006 1272 1274 10.1096/fj.06-5721fje
312. G. Ferrari-DiLeo, and D.D. Flynn Diminished muscarinic receptor-stimulated [3H]-PIP2 hydrolysis in Alzheimer's disease Life Sci. 53 1993 PL439 PL444
313. C.E. Stokes, and J.N. Hawthorne Reduced phosphoinositide concentrations in anterior temporal cortex of Alzheimer-diseased brains J. Neurochem. 48 1987 1018 1021
314. G.S. Zubenko, J.S. Stiffler, H.B. Hughes, and A.J. Martinez Reductions in brain phosphatidylinositol kinase activities in Alzheimer's disease Biol. Psychiatry 45 1999 731 736 (S0006322398000730 [pii])
315. S.A. Bennett, N. Valenzuela, H. Xu, B. Franko, S. Fai, and D. Figeys Using neurolipidomics to identify phospholipid mediators of synaptic (dys)function in Alzheimer's disease Front. Physiol. 4 2013 168 10.3389/fphys.2013.00168
316. D.E. Berman, C. Dall'Armi, S.V. Voronov, L.B. McIntire, H. Zhang, A.Z. Moore, A. Staniszewski, O. Arancio, T.W. Kim, and G. Di Paolo Oligomeric amyloid-beta peptide disrupts phosphatidylinositol-4,5-bisphosphate metabolism Nat. Neurosci. 11 2008 547 554 10.1038/nn.2100 (nn.2100 [pii])
317. B. Wu, K. Kitagawa, B. Liu, N.Y. Zhang, Z.M. Xiong, and C. Inagaki Attenuation of amyloid beta (Abeta)-induced inhibition of phosphatidylinositol 4-kinase activity by Abeta fragments, Abeta20-29 and Abeta31-35 Neurosci. Lett. 396 2006 148 152 10.1016/j.neulet.2005.11.026 (S0304-3940(05)01310-8 [pii])
318. Z.M. Xiong, K. Kitagawa, Y. Nishiuchi, T. Kimura, and C. Inagaki Protective effects of Abeta-derived tripeptide, Abeta(32-34), on Abeta(1-42)-induced phosphatidylinositol 4-kinase inhibition and neurotoxicity Neurosci. Lett. 419 2007 247 252 10.1016/j.neulet.2007.04.022 (S0304-3940(07)00442-9 [pii])
319. O. Holmes, S. Paturi, W. Ye, M.S. Wolfe, and D.J. Selkoe Effects of membrane lipids on the activity and processivity of purified gamma-secretase Biochemistry 51 2012 3565 3575 10.1021/bi300303g
320. C.M. Karch, and A.M. Goate Alzheimer's disease risk genes and mechanisms of disease pathogenesis Biol. Psychiatry 2014 10.1016/j.biopsych.2014.05.006
321. D. Harold, R. Abraham, P. Hollingworth, R. Sims, A. Gerrish, M.L. Hamshere, J.S. Pahwa, V. Moskvina, K. Dowzell, A. Williams, N. Jones, C. Thomas, A. Stretton, A.R. Morgan, S. Lovestone, J. Powell, P. Proitsi, M.K. Lupton, C. Brayne, D.C. Rubinsztein, M. Gill, B. Lawlor, A. Lynch, K. Morgan, K.S. Brown, P.A. Passmore, D. Craig, B. McGuinness, S. Todd, C. Holmes, D. Mann, A.D. Smith, S. Love, P.G. Kehoe, J. Hardy, S. Mead, N. Fox, M. Rossor, J. Collinge, W. Maier, F. Jessen, B. Schurmann, H. van den Bussche, I. Heuser, J. Kornhuber, J. Wiltfang, M. Dichgans, L. Frolich, H. Hampel, M. Hull, D. Rujescu, A.M. Goate, J.S. Kauwe, C. Cruchaga, P. Nowotny, J.C. Morris, K. Mayo, K. Sleegers, K. Bettens, S. Engelborghs, P.P. De Deyn, C. Van Broeckhoven, G. Livingston, N.J. Bass, H. Gurling, A. McQuillin, R. Gwilliam, P. Deloukas, A. Al-Chalabi, C.E. Shaw, M. Tsolaki, A.B. Singleton, R. Guerreiro, T.W. Muhleisen, M.M. Nothen, S. Moebus, K.H. Jockel, N. Klopp, H.E. Wichmann, M.M. Carrasquillo, V.S. Pankratz, S.G. Younkin, P.A. Holmans, M. O'Donovan, M.J. Owen, and J. Williams Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nat. Genet. 41 2009 1088 1093 10.1038/ng.440 (ng.440 [pii])
322. B.M. Schjeide, C. Schnack, J.C. Lambert, C.M. Lill, J. Kirchheiner, H. Tumani, M. Otto, R.E. Tanzi, H. Lehrach, P. Amouyel, C.A. von Arnim, and L. Bertram The role of clusterin, complement receptor 1, and phosphatidylinositol binding clathrin assembly protein in Alzheimer disease risk and cerebrospinal fluid biomarker levels Arch. Gen. Psychiatry 68 2011 207 213 10.1001/archgenpsychiatry.2010.196 (68/2/207 [pii])
323. Q. Xiao, S.C. Gil, P. Yan, Y. Wang, S. Han, E. Gonzales, R. Perez, J.R. Cirrito, and J.M. Lee Role of phosphatidylinositol clathrin assembly lymphoid-myeloid leukemia (PICALM) in intracellular amyloid precursor protein (APP) processing and amyloid plaque pathogenesis J. Biol. Chem. 287 2012 21279 21289 10.1074/jbc.M111.338376 (M111.338376 [pii])
324. Y. Ru, L. Yin, H. Sun, S. Yin, Q. Pan, H. Wei, L. Wu, and S. Liu A micropreparation of mitochondria from cells using magnetic beads with immunoaffinity Anal. Biochem. 421 2012 219 226 10.1016/j.ab.2011.11.015 (S0003-2697(11)00747-0 [pii])
325. Y. Arai, T. Ijuin, T. Takenawa, L.E. Becker, and S. Takashima Excessive expression of synaptojanin in brains with Down syndrome Brain Dev. 24 2002 67 72 (S0387760401004053 [pii])
326. J.C. Cossec, J. Lavaur, D.E. Berman, I. Rivals, A. Hoischen, S. Stora, C. Ripoll, C. Mircher, Y. Grattau, J.C. Olivomarin, F. de Chaumont, M. Lecourtois, S.E. Antonarakis, J.A. Veltman, J.M. Delabar, C. Duyckaerts, G. Di Paolo, and M.C. Potier Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes Hum. Mol. Genet. 2012 10.1093/hmg/dds142 (dds142 [pii])
327. S.V. Voronov, S.G. Frere, S. Giovedi, E.A. Pollina, C. Borel, H. Zhang, C. Schmidt, E.C. Akeson, M.R. Wenk, L. Cimasoni, O. Arancio, M.T. Davisson, S.E. Antonarakis, K. Gardiner, P. De Camilli, and G. Di Paolo Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome Proc. Natl. Acad. Sci. U. S. A. 105 2008 9415 9420 10.1073/pnas.0803756105 (0803756105 [pii])
328. L. Zhu, M. Zhong, J. Zhao, H. Rhee, I. Caesar, E.M. Knight, L. Volpicelli-Daley, V. Bustos, W. Netzer, L. Liu, L. Lucast, M.E. Ehrlich, N.K. Robakis, S.E. Gandy, and D. Cai Reduction of synaptojanin 1 accelerates Abeta clearance and attenuates cognitive deterioration in an Alzheimer mouse model J. Biol. Chem. 288 2013 32050 32063 10.1074/jbc.M113.504365
329. A. Ruiz, S. Heilmann, T. Becker, I. Hernandez, H. Wagner, M. Thelen, A. Mauleon, M. Rosende-Roca, C. Bellenguez, J.C. Bis, D. Harold, A. Gerrish, R. Sims, O. Sotolongo-Grau, A. Espinosa, M. Alegret, J.L. Arrieta, A. Lacour, M. Leber, J. Becker, A. Lafuente, S. Ruiz, L. Vargas, O. Rodriguez, G. Ortega, M.A. Dominguez, Mayeux R. Igap, J.L. Haines, M.A. Pericak-Vance, L.A. Farrer, G.D. Schellenberg, V. Chouraki, L.J. Launer, C. van Duijn, S. Seshadri, C. Antunez, M.M. Breteler, M. Serrano-Rios, F. Jessen, L. Tarraga, M.M. Nothen, W. Maier, M. Boada, and A. Ramirez Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene Transl. Psychiatry 4 2014 e358 10.1038/tp.2014.2
330. K. Ando, J.P. Brion, V. Stygelbout, V. Suain, M. Authelet, R. Dedecker, A. Chanut, P. Lacor, J. Lavaur, V. Sazdovitch, E. Rogaeva, M.C. Potier, and C. Duyckaerts Clathrin adaptor CALM/PICALM is associated with neurofibrillary tangles and is cleaved in Alzheimer's brains Acta Neuropathol. 125 2013 861 878 10.1007/s00401-013-1111-z
331. K. Kanatsu, Y. Morohashi, M. Suzuki, H. Kuroda, T. Watanabe, T. Tomita, and T. Iwatsubo Decreased CALM expression reduces Abeta42 to total Abeta ratio through clathrin-mediated endocytosis of gamma-secretase Nat. Commun. 5 2014 3386 10.1038/ncomms4386
332. S.E. Miller, D.A. Sahlender, S.C. Graham, S. Honing, M.S. Robinson, A.A. Peden, and D.J. Owen The molecular basis for the endocytosis of small R-SNAREs by the clathrin adaptor CALM Cell 147 2011 1118 1131 10.1016/j.cell.2011.10.038
333. K. Moreau, A. Fleming, S. Imarisio, A. Lopez Ramirez, J.L. Mercer, M. Jimenez-Sanchez, C.F. Bento, C. Puri, E. Zavodszky, F. Siddiqi, C.P. Lavau, M. Betton, C.J. O'Kane, D.S. Wechsler, and D.C. Rubinsztein PICALM modulates autophagy activity and tau accumulation Nat. Commun. 5 2014 4998 10.1038/ncomms5998
334. S. Treusch, S. Hamamichi, J.L. Goodman, K.E. Matlack, C.Y. Chung, V. Baru, J.M. Shulman, A. Parrado, B.J. Bevis, J.S. Valastyan, H. Han, M. Lindhagen-Persson, E.M. Reiman, D.A. Evans, D.A. Bennett, A. Olofsson, P.L. DeJager, R.E. Tanzi, K.A. Caldwell, G.A. Caldwell, and S. Lindquist Functional links between Abeta toxicity, endocytic trafficking, and Alzheimer's disease risk factors in yeast Science 334 2011 1241 1245 10.1126/science.1213210 (science.1213210 [pii])
335. M.G. Ford, B.M. Pearse, M.K. Higgins, Y. Vallis, D.J. Owen, A. Gibson, C.R. Hopkins, P.R. Evans, and H.T. McMahon Simultaneous binding of PtdIns(4,5)P2 and clathrin by AP180 in the nucleation of clathrin lattices on membranes Science 291 2001 1051 1055 10.1126/science.291.5506.1051
336. R.V. Stahelin, F. Long, B.J. Peter, D. Murray, P. De Camilli, H.T. McMahon, and W. Cho Contrasting membrane interaction mechanisms of AP180 N-terminal homology (ANTH) and epsin N-terminal homology (ENTH) domains J. Biol. Chem. 278 2003 28993 28999 10.1074/jbc.M302865200
337. O. Cremona, G. Di Paolo, M.R. Wenk, A. Luthi, W.T. Kim, K. Takei, L. Daniell, Y. Nemoto, S.B. Shears, R.A. Flavell, D.A. McCormick, and P. De Camilli Essential role of phosphoinositide metabolism in synaptic vesicle recycling Cell 99 1999 179 188 (S0092-8674(00)81649-9 [pii])
338. C.K. Chen, C. Bregere, J. Paluch, J.F. Lu, D.K. Dickman, and K.T. Chang Activity-dependent facilitation of Synaptojanin and synaptic vesicle recycling by the Minibrain kinase Nat. Commun. 5 2014 4246 10.1038/ncomms5246
339. J. Xie, C. Erneux, and I. Pirson How does SHIP1/2 balance PtdIns(3,4)P2 and does it signal independently of its phosphatase activity? Bioessays 35 2013 733 743 10.1002/bies.201200168
340. S.B. Martin, A.L. Dowling, J. Lianekhammy, I.T. Lott, E. Doran, M.P. Murphy, T.L. Beckett, F.A. Schmitt, and E. Head Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease J. Alzheimers Dis. 42 2014 767 775 10.3233/JAD-140795
341. M.S. Kang, S.H. Baek, Y.S. Chun, A.Z. Moore, N. Landman, D. Berman, H.O. Yang, M. Morishima-Kawashima, S. Osawa, S. Funamoto, Y. Ihara, G. Di Paolo, J.H. Park, S. Chung, and T.W. Kim Modulation of lipid kinase PI4KIIalpha activity and lipid raft association of presenilin 1 underlies gamma-secretase inhibition by ginsenoside (20S)-Rg3 J. Biol. Chem. 288 2013 20868 20882 10.1074/jbc.M112.445734
342. M. Pietri, C. Dakowski, S. Hannaoui, A. Alleaume-Butaux, J. Hernandez-Rapp, A. Ragagnin, S. Mouillet-Richard, S. Haik, Y. Bailly, J.M. Peyrin, J.M. Launay, O. Kellermann, and B. Schneider PDK1 decreases TACE-mediated alpha-secretase activity and promotes disease progression in prion and Alzheimer's diseases Nat. Med. 19 2013 1124 1131 10.1038/nm.3302
343. L. Manterola, M. Hernando-Rodriguez, A. Ruiz, A. Apraiz, O. Arrizabalaga, L. Vellon, E. Alberdi, F. Cavaliere, H.M. Lacerda, S. Jimenez, L.A. Parada, C. Matute, and J.L. Zugaza 1-42 beta-amyloid peptide requires PDK1/nPKC/Rac 1 pathway to induce neuronal death Transl. Psychiatry 3 2013 e219 10.1038/tp.2012.147
344. E. Morel, Z. Chamoun, Z.M. Lasiecka, R.B. Chan, R.L. Williamson, C. Vetanovetz, C. Dall'Armi, S. Simoes, K.S. Point Du Jour, B.D. McCabe, S.A. Small, and G. Di Paolo Phosphatidylinositol-3-phosphate regulates sorting and processing of amyloid precursor protein through the endosomal system Nat. Commun. 4 2013 2250 10.1038/ncomms3250
345. L. Wang, K. Budolfson, and F. Wang Pik3c3 deletion in pyramidal neurons results in loss of synapses, extensive gliosis and progressive neurodegeneration Neuroscience 172 2011 427 442 10.1016/j.neuroscience.2010.10.035
346. M. Quadri, M. Fang, M. Picillo, S. Olgiati, G.J. Breedveld, J. Graafland, B. Wu, F. Xu, R. Erro, M. Amboni, S. Pappata, M. Quarantelli, G. Annesi, A. Quattrone, H.F. Chien, E.R. Barbosa, N. International Parkinsonism Genetics, B.A. Oostra, P. Barone, J. Wang, and V. Bonifati Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism Hum. Mutat. 34 2013 1208 1215 10.1002/humu.22373
347. S. Olgiati, A. De Rosa, M. Quadri, C. Criscuolo, G.J. Breedveld, M. Picillo, S. Pappata, M. Quarantelli, P. Barone, G. De Michele, and V. Bonifati PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family Neurogenetics 15 2014 183 188 10.1007/s10048-014-0406-0
348. S. Winkler, E.J. Vollstedt, M. Kasten, D. Alvarez-Fischer, C. Klein, and K. Lohmann The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease J. Neurol. 261 2014 833 834 10.1007/s00415-014-7306-y
349. C.E. Krebs, S. Karkheiran, J.C. Powell, M. Cao, V. Makarov, H. Darvish, G. Di Paolo, R.H. Walker, G.A. Shahidi, J.D. Buxbaum, P. De Camilli, Z. Yue, and C. Paisan-Ruiz The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures Hum. Mutat. 34 2013 1200 1207 10.1002/humu.22372
350. D.A. Dyment, A.C. Smith, P. Humphreys, J. Schwartzentruber, C.L. Beaulieu, F.C. Consortium, D.E. Bulman, J. Majewski, J. Woulfe, J. Michaud, and K.M. Boycott Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology Neurobiol. Aging 2014 10.1016/j.neurobiolaging.2014.09.005
351. D.A. Dyment, M. Tetreault, C.L. Beaulieu, T. Hartley, P. Ferreira, J.W. Chardon, J. Marcadier, S.L. Sawyer, S.J. Mosca, A.M. Innes, J.S. Parboosingh, D.E. Bulman, J. Schwartzentruber, J. Majewski, M. Tarnopolsky, K.M. Boycott, F.C. Consortium, and Care4Rare C Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study Clin. Genet. 2014 10.1111/cge.12464
352. N. Fabelo, V. Martin, G. Santpere, R. Marin, L. Torrent, I. Ferrer, and M. Diaz Severe alterations in lipid composition of frontal cortex lipid rafts from Parkinson's disease and incidental Parkinson's disease Mol. Med. 17 2011 1107 1118 10.2119/molmed.2011.00119
353. V. Drouet, and S. Lesage Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms Biomed. Res. Int. 2014 2014 289728 10.1155/2014/289728
354. L.M. Lopez, S.E. Harris, M. Luciano, D. Liewald, G. Davies, A.J. Gow, A. Tenesa, A. Payton, X. Ke, L.J. Whalley, H. Fox, P. Haggerty, W. Ollier, A. Pickles, D.J. Porteous, M.A. Horan, N. Pendleton, J.M. Starr, and I.J. Deary Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts Eur. J. Hum. Genet. 20 2012 341 347 10.1038/ejhg.2011.201
355. M. Luciano, L.M. Lopez, M.H. de Moor, S.E. Harris, G. Davies, T. Nutile, R.F. Krueger, T. Esko, D. Schlessinger, T. Toshiko, J.L. Derringer, A. Realo, N.K. Hansell, M.L. Pergadia, A.K. Pesonen, S. Sanna, A. Terracciano, P.A. Madden, B. Penninx, P. Spinhoven, C.A. Hartman, B.A. Oostra, A.C. Janssens, J.G. Eriksson, J.M. Starr, A. Cannas, L. Ferrucci, A. Metspalu, M.J. Wright, A.C. Heath, C.M. van Duijn, L.J. Bierut, K. Raikkonen, N.G. Martin, M. Ciullo, D. Rujescu, D.I. Boomsma, and I.J. Deary Longevity candidate genes and their association with personality traits in the elderly Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B 2012 192 200 10.1002/ajmg.b.32013
356. S.S. Manji, L.H. Williams, K.A. Miller, L.M. Ooms, M. Bahlo, C.A. Mitchell, and H.H. Dahl A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart PLoS ONE 6 2011 e17607 10.1371/journal.pone.0017607
357. Y. Hatano, Y. Li, K. Sato, S. Asakawa, Y. Yamamura, H. Tomiyama, H. Yoshino, M. Asahina, S. Kobayashi, S. Hassin-Baer, C.S. Lu, A.R. Ng, R.L. Rosales, N. Shimizu, T. Toda, Y. Mizuno, and N. Hattori Novel PINK1 mutations in early-onset parkinsonism Ann. Neurol. 56 2004 424 427 10.1002/ana.20251
358. C.F. Rohe, P. Montagna, G. Breedveld, P. Cortelli, B.A. Oostra, and V. Bonifati Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism Ann. Neurol. 56 2004 427 431 10.1002/ana.20247
359. E.M. Valente, P.M. Abou-Sleiman, V. Caputo, M.M. Muqit, K. Harvey, S. Gispert, Z. Ali, D. Del Turco, A.R. Bentivoglio, D.G. Healy, A. Albanese, R. Nussbaum, R. Gonzalez-Maldonado, T. Deller, S. Salvi, P. Cortelli, W.P. Gilks, D.S. Latchman, R.J. Harvey, B. Dallapiccola, G. Auburger, and N.W. Wood Hereditary early-onset Parkinson's disease caused by mutations in PINK1 Science 304 2004 1158 1160 10.1126/science.1096284
360. E.M. Valente, S. Salvi, T. Ialongo, R. Marongiu, A.E. Elia, V. Caputo, L. Romito, A. Albanese, B. Dallapiccola, and A.R. Bentivoglio PINK1 mutations are associated with sporadic early-onset parkinsonism Ann. Neurol. 56 2004 336 341 10.1002/ana.20256
361. V.D. Nair, C.W. Olanow, and S.C. Sealfon Activation of phosphoinositide 3-kinase by D2 receptor prevents apoptosis in dopaminergic cell lines Biochem. J. 373 2003 25 32 10.1042/BJ20030017
362. G.E. Hardingham Coupling of the NMDA receptor to neuroprotective and neurodestructive events Biochem. Soc. Trans. 37 2009 1147 1160 10.1042/BST0371147
363. F.M. Yatsu, and S.A. Moss Brain lipid changes following hypoxia Stroke 2 1971 587 593
364. T.N. Lin, T.H. Liu, J. Xu, C.Y. Hsu, and G.Y. Sun Brain polyphosphoinositide metabolism during focal ischemia in rat cortex Stroke 22 1991 495 498
365. J. Bralet, P. Beley, R. Jemaa, A.M. Bralet, and A. Beley Lipid metabolism, cerebral metabolic rate, and some related enzyme activities after brain infarction in rats Stroke 18 1987 418 425
366. S. Koutouzov, P. Marche, A. Girard, and P. Meyer Altered turnover of polyphosphoinositides in the erythrocyte membrane of the spontaneously hypertensive rat Hypertension 5 1983 409 414
367. Y. Furuta, T. Uehara, and Y. Nomura Correlation between delayed neuronal cell death and selective decrease in phosphatidylinositol 4-kinase expression in the CA1 subfield of the hippocampus after transient forebrain ischemia J. Cereb. Blood Flow Metab. 23 2003 962 971 10.1097/01.WCB.0000073948.29308.F8
368. E. Abe, M. Fujiki, Y. Nagai, K. Shiqi, T. Kubo, K. Ishii, T. Abe, and H. Kobayashi The phosphatidylinositol-3 kinase/Akt pathway mediates geranylgeranylacetone-induced neuroprotection against cerebral infarction in rats Brain Res. 1330 2010 151 157 10.1016/j.brainres.2010.02.074
369. A.M. Brennan-Minnella, Y. Shen, J. El-Benna, and R.A. Swanson Phosphoinositide 3-kinase couples NMDA receptors to superoxide release in excitotoxic neuronal death Cell Death Dis. 4 2013 e580 10.1038/cddis.2013.111
370. C.B. Chan, X. Liu, S. Pradoldej, C. Hao, J. An, M. Yepes, H.R. Luo, and K. Ye Phosphoinositide 3-kinase enhancer regulates neuronal dendritogenesis and survival in neocortex J. Neurosci. 31 2011 8083 8092 10.1523/JNEUROSCI. 1129-11.2011
371. H. Endo, C. Nito, H. Kamada, F. Yu, and P.H. Chan Akt/GSK3beta survival signaling is involved in acute brain injury after subarachnoid hemorrhage in rats Stroke 37 2006 2140 2146 10.1161/01.STR.0000229888.55078.72
372. S.P. Jackson, S.M. Schoenwaelder, I. Goncalves, W.S. Nesbitt, C.L. Yap, C.E. Wright, V. Kenche, K.E. Anderson, S.M. Dopheide, Y. Yuan, S.A. Sturgeon, H. Prabaharan, P.E. Thompson, G.D. Smith, P.R. Shepherd, N. Daniele, S. Kulkarni, B. Abbott, D. Saylik, C. Jones, L. Lu, S. Giuliano, S.C. Hughan, J.A. Angus, A.D. Robertson, and H.H. Salem PI 3-kinase p110beta: a new target for antithrombotic therapy Nat. Med. 11 2005 507 514 10.1038/nm1232
373. R. Jin, S. Yu, Z. Song, J.W. Quillin, D.P. Deasis, J.M. Penninger, A. Nanda, D.N. Granger, and G. Li Phosphoinositide 3-kinase-gamma expression is upregulated in brain microglia and contributes to ischemia-induced microglial activation in acute experimental stroke Biochem. Biophys. Res. Commun. 399 2010 458 464 10.1016/j.bbrc.2010.07.116
374. M. Katakowski, Z.G. Zhang, J. Chen, R. Zhang, Y. Wang, H. Jiang, L. Zhang, A. Robin, Y. Li, and M. Chopp Phosphoinositide 3-kinase promotes adult subventricular neuroblast migration after stroke J. Neurosci. Res. 74 2003 494 501 10.1002/jnr.10775
375. E. Kilic, U. Kilic, Y. Wang, C.L. Bassetti, H.H. Marti, and D.M. Hermann The phosphatidylinositol-3 kinase/Akt pathway mediates VEGF's neuroprotective activity and induces blood brain barrier permeability after focal cerebral ischemia FASEB J. 20 2006 1185 1187 10.1096/fj.05-4829fje
376. S. Kim, K.Y. Lee, S.H. Koh, H.H. Park, H.J. Yu, and Y.J. Lee Role of the phosphatidylinositol 3-kinase and extracellular signal-regulated kinase pathways in the neuroprotective effects of cilnidipine against hypoxia in a primary culture of cortical neurons Neurochem. Int. 61 2012 1172 1182 10.1016/j.neuint.2012.08.010
377. W.J. Tu, X.Y. Liu, H. Dong, Y. Yu, Y. Wang, and H. Chen Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1: a meaningful and independent marker to predict stroke in the Chinese population J. Mol. Neurosci. 52 2014 507 514 10.1007/s12031-013-0206-2
378. V. Toschi, A. Motta, C. Castelli, M.L. Paracchini, D. Zerbi, and A. Gibelli High prevalence of antiphosphatidylinositol antibodies in young patients with cerebral ischemia of undetermined cause Stroke 29 1998 1759 1764