Roles and mechanisms of ankyrin-G in neuropsychiatric disorders

참고문헌 (125)

1. Mosavi, L. K., "The ankyrin repeat as molecular architecture for protein recognition", Protein Sci, 13, pp.1435~1448 (2004)
2. Yoon, S., "Usp9X controls ankyrin-repeat domain protein homeostasis during dendritic spine development", Neuron, 105, pp.506~521.e507 (2020)
3. Fromer, M., "De novo mutations in schizophrenia implicate synaptic networks", Nature, 506, pp.179~184 (2014)
4. Iossifov, I., "The contribution of de novo coding mutations to autism spectrum disorder", Nature, 515, pp.216~221 (2014)
5. Purcell, S. M., "A polygenic burden of rare disruptive mutations in schizophrenia", Nature, 506, pp.185~190 (2014)
6. Hou, L., "Genome-wide association study of 40, 000 individuals identifies two novel loci associated with bipolar disorder", Hum. Mol. Genet, 25, pp.3383~3394 (2016)
7. Mullins, N., "Genome-wide association study of more than 40, 000 bipolar disorder cases provides new insights into the underlying biology", Nat. Genet, 53, pp.817~829 (2021)
8. Ferreira, M. A., "Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder", Nat. Genet, 40, pp.1056~1058 (2008)
9. Schulze, T. G., "Two variants in Ankyrin 3(ANK3)are independent genetic risk factors for bipolar disorder", Mol. Psychiatry, 14, pp.487~491 (2009)
10. Sanders, S. J., "De novo mutations revealed by whole-exome sequencing are strongly associated with autism", Nature, 485, pp.237~241 (2012)
11. Kloth, K., "First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features", Eur. J. Med. Genet, 60, pp.494~498 (2017)
12. Baum, A. E., "Meta-analysis of two genome-wide association studies of bipolar disorder reveals important points of agreement", Mol. Psychiatry, 13, pp.466~467 (2008)
13. Ruberto, G., "The cognitive impact of the ANK3 risk variant for bipolar disorder: initial evidence of selectivity to signal detection during sustained attention", PLoS ONE, 6, pp.e16671~ (2011)
14. Hatzimanolis, A., "Bipolar disorder ANK3 risk variant effect on sustained attention is replicated in a large healthy population", Psychiatr. Genet, 22, pp.210~213 (2012)
15. Linke, J., "Genome-wide supported risk variant for bipolar disorder alters anatomical connectivity in the human brain", Neuroimage, 59, pp.3288~3296 (2012)
16. Delvecchio, G., "The effect of ANK3 bipolar-risk polymorphisms on the working memory circuitry differs between loci and according to risk-status for bipolar disorder", Am. J. Med. Genet. B Neuropsychiatr. Genet, 168B, pp.188~196 (2015)
17. Hori, H., "Cognitive effects of the ANK3 risk variants in patients with bipolar disorder and healthy individuals", J. Affect. Disord, 158, pp.90~96 (2014)
18. Dima, D., "Independent modulation of engagement and connectivity of the facial network during affect processing by CACNA1C and ANK3 risk genes for bipolar disorder", JAMA Psychiatry, 70, pp.1303~1311 (2013)
19. Ota, M., "Effects of ankyrin 3 gene risk variants on brain structures in patients with bipolar disorder and healthy subjects", Psychiat Clin. Neurosci, 70, pp.498~506 (2016)
20. Lippard, E. T. C., "Effects of ANK3 variation on gray and white matter in bipolar disorder", Mol. Psychiatry, 22, pp.1345~1351 (2017)
21. Wirgenes, K. V., "ANK3 gene expression in bipolar disorder and schizophrenia", Br. J. Psychiatry, 205, pp.244~245 (2014)
22. Rueckert, E. H., "Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder", Mol. Psychiatry, 18, pp.922~929 (2013)
23. Tang, L. L., "ANK3 gene polymorphism Rs10994336 influences executive functions by modulating methylation in patients with bipolar disorder", Front. Neurosci, 15, pp.682873~ (2021)
24. Hughes, T., "Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder", Transl. Psychiatry, 8, pp.210~ (2018)
25. Hughes, T., "A loss-of-function variant in a minor isoform of ANK3 protects against bipolar disorder and schizophrenia", Biol. Psychiatry, 80, pp.323~330 (2016)
26. Bavamian, S., "Dysregulation of miR-34a links neuronal development to genetic risk factors for bipolar disorder", Mol. Psychiatry, 20, pp.573~584 (2015)
27. Bame, M., "MicroRNA alterations in induced pluripotent stem cell-derived neurons from bipolar disorder patients: pathways involved in neuronal differentiation, axon guidance, and plasticity", Stem Cells Dev, 29, pp.1145~1159 (2020)
28. Fiorentino, A., "Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data", Bipolar Disord, 16, pp.583~591 (2014)
29. Forstner, A. J., "Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families", Transl. Psychiatry, 10, pp.57~ (2020)
30. Nelson, A. D., "Ankyrin-G regulates forebrain connectivity and network synchronization via interaction with GABARAP", Mol. Psychiatry, 25, pp.2800~2817 (2020)
31. Gella, A., "Is Ankyrin a genetic risk factor for psychiatric phenotypes?", BMC Psychiatry, 11, pp.103~ (2011)
32. Athanasiu, L., "Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort", J. Psychiatr. Res, 44, pp.748~753 (2010)
33. Moskvina, V., "Gene-wide analyses of genome-wide association data sets:evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk", Mol. Psychiatry, 14, pp.252~260 (2009)
34. Yuan, A. H., "ANK3 as a risk gene for schizophrenia: new data in Han Chinese and meta analysis", Am. J. Med. Genet. B, 159b, pp.997~1005 (2012)
35. Lim, C. H., "Genetic association of LMAN2L gene in schizophrenia and bipolar disorder and its interaction with ANK3 gene polymorphism", Prog. Neuropsychopharmacol. Biol. Psychiatry, 54, pp.157~162 (2014)
36. Nie, F., "Genetic analysis of SNPs in CACNA1C and ANK3 gene with schizophrenia : a comprehensive meta-analysis", Am. J. Med. Genet. B Neuropsychiatr. Genet, 168, pp.637~648 (2015)
37. Guo, X. J., "Association analysis of ANK3 gene variants with schizophrenia in a northern Chinese Han population", Oncotarget, 7, pp.85888~85894 (2016)
38. Roussos, P., "Molecular and genetic evidence for abnormalities in the nodes of Ranvier in schizophrenia", Arch. Gen. Psychiat, 69, pp.7~15 (2012)
39. Zhong, X., "Case control study of association between the ANK3 rs10761482 polymorphism and schizophrenia in persons of Uyghur nationality living in Xinjiang China", Shanghai Arch. Psychiatry, 26, pp.288~293 (2014)
40. Roussos, P., "The CACNA1C and ANK3 risk alleles impact on affective personality traits and startle reactivity but not on cognition or gating in healthy males", Bipolar Disord, 13, pp.250~259 (2011)
41. Cassidy, C., "Association of a risk allele of ANK3 with cognitive performance and cortical thickness in patients with first-episode psychosis", J. Psychiatr. Neurosci, 39, pp.31~39 (2014)
42. Lam, M., "Comparative genetic architectures of schizophrenia in East Asian and European populations", Nat. Genet, 51, pp.1670~1678 (2019)
43. Legge, S. E., "Association of genetic liability to psychotic experiences with neuropsychotic disorders and traits", JAMA Psychiatry, 76, pp.1256~1265 (2019)
44. Bi, C., "Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility", Hum. Mutat, 33, pp.1635~1638 (2012)
45. Codina-Sola, M., "Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders", Mol. Autism, 6, pp.21~ (2015)
46. Bonnet-Brilhault, F., "GABA", Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability, 2016, pp.21, 411~418
47. Chen, S., "Latent and abnormal functional connectivity circuits in autism spectrum disorder", Front. Neurosci, 11, pp.125~ (2017)
48. Lim, E. T., "Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder", Nat. Neurosci, 20, pp.1217~1224 (2017)
49. McKenna, B., "Wholegenome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk", Cold Spring Harb. Mol. Case Stud, 4, pp.a003285~ (2018)
50. Feliciano, P., "Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes", NPJ Genom. Med, 4, pp.19~ (2019)
51. Kloth, K., "ANK3 related neurodevelopmental disorders : expanding the spectrum of heterozygous loss-of-function variants", Neurogenetics, 22, pp.263~269 (2021)
52. Zhou, D. X., "Ankyrin(G) is required for clustering of voltage-gated Na channels at axon initial segments and for normal action potential firing", J. Cell Biol, 143, pp.1295~1304 (1998)
53. Leussis, M. P., "The ANK3 bipolar disorder gene regulates psychiatric-related behaviors that are modulated by lithium and stress", Biol. Psychiatry, 73, pp.683~690 (2013)
54. Chang, K. J., "Glial ankyrins facilitate paranodal axoglial junction assembly", Nat. Neurosci, 17, pp.1673~1681 (2014)
55. Smith, K. R., "Psychiatric risk factor ANK3", ankyrin-G nanodomains regulate the structure and function of glutamatergic synapses, 2014, pp.84, 399~415
56. Ignatiuk, A., "The smaller isoforms of ankyrin 3 bind to the p85 subunit of phosphatidylinositol 3’-kinase and enhance platelet-derived growth factor receptor downregulation", J. Biol. Chem, 281, pp.5956~5964 (2006)
57. Yoon, S., "Homer1 promotes dendritic spine growth through ankyrin-G and its loss reshapes the synaptic proteome", Mol. Psychiatry, 26, pp.1775~1789 (2021)
58. Zhu, S., "Genetic disruption of ankyrin-G in adult mouse forebrain causes cortical synapse alteration and behavior reminiscent of bipolar disorder", Proc. Natl Acad. Sci. USA, 114, pp.10479~10484 (2017)
59. Yoon, S., "cAMP signaling-mediated phosphorylation of diacylglycerol lipase alpha regulates interaction with ankyrin-G and dendritic spine morphology", Biol. Psychiatry, 90, pp.263~274 (2021)
60. Cruz, D. A., "Postnatal development of synaptic structure proteins in pyramidal neuron axon initial segments in monkey prefrontal cortex", J. Comp. Neurol, 514, pp.353~367 (2009)
61. Yoshimura, T., "Developmental changes in expression of betaIV spectrin splice variants at axon initial segments and nodes of Ranvier", Front. Cell. Neurosci, 10, pp.304~ (2016)
62. Kizhatil, K., "Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia", Science, 323, pp.1614~1617 (2009)
63. Zhang, X., "Structural requirements for association of neurofascin with ankyrin", J. Biol. Chem, 273, pp.30785~30794 (1998)
64. Lopez, C., "The ammonium transporter RhBG: requirement of a tyrosinebased signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cells", J. Biol. Chem, 280, pp.8221~8228 (2005)
65. Sohet, F., "Phosphorylation and ankyrin-G binding of the C-terminal domain regulate targeting and function of the ammonium transporter RhBG", J. Biol. Chem, 283, pp.26557~26567 (2008)
66. Genetet, S., "Evidence of a structural and functional ammonium transporter RhBG.anion exchanger 1.ankyrin-G complex in kidney epithelial cells", J. Biol. Chem, 290, pp.6925~6936 (2015)
67. Garrido, J. J., "A targeting motif involved in sodium channel clustering at the axonal initial segment", Science, 300, pp.2091~2094 (2003)
68. Lemaillet, G., "Identification of a conserved ankyrinbinding motif in the family of sodium channel alpha subunits", J. Biol. Chem, 278, pp.27333~27339 (2003)
69. Pan, Z., "A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon", J. Neurosci, 26, pp.2599~2613 (2006)
70. Bennett, V., "An adaptable spectrin", ankyrin-based mechanism for long-range organization of plasma membranes in vertebrate tissues, 2016, pp.77, 143~184
71. Jenkins, S. M., "FIGQY phosphorylation defines discrete populations of L1cell adhesion molecules at sites of cell-cell contact and in migrating neurons", J. Cell Sci, 114, pp.3823~3835 (2001)
72. Kizhatil, K., "Ankyrin-G is a molecular partner of E-cadherin in epithelial cells and early embryos", J. Biol. Chem, 282, pp.26552~26561 (2007)
73. Kordeli, E., "Ankyrin(G) is associated with the postsynaptic membrane and the sarcoplasmic reticulum in the skeletal muscle fiber", J. Cell Sci, 111, pp.2197~2207 (1998)
74. Ayalon, G., "An ankyrin-basedmechanism for functional organization of dystrophin and dystroglycan", Cell, 135, pp.1189~1200 (2008)
75. Zhu, D., "The ankyrin-binding domain of CD44s is involved in regulating hyaluronic acid-mediated functions and prostate tumor cell transformation", Cell Motil. Cytoskeleton, 39, pp.209~222 (1998)
76. Zhu, D., "Interaction between CD44 and the repeat domain of ankyrin promotes hyaluronic acid-mediated ovarian tumor cell migration", J. Cell. Physiol, 183, pp.182~195 (2000)
77. Martin, P. M., "Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late component of nodes of Ranvier and axon initial segments", J. Neurosci, 28, pp.6111~6117 (2008)
78. Martin, P. M., "Schwannomin-interacting protein 1 isoform IQCJ-SCHIP1 is a multipartner ankyrin-and spectrin-binding protein involved in the organization of nodes of Ranvier", J. Biol. Chem, 292, pp.2441~2456 (2017)
79. Barry, J., "Ankyrin-G directly binds to kinesin-1 to transport voltage-gated Na + channels into axons", Dev. Cell, 28, pp.117~131 (2014)
80. Bourguignon, L. Y., "Ankyrin-Tiam1 interaction promotes Rac1 signaling and metastatic breast tumor cell invasion and migration", J. Cell Biol, 150, pp.177~191 (2000)
81. Homan, C. C., "Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth", Am. J. Hum. Genet, 94, pp.470~478 (2014)
82. Reijnders, M. R., "De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations", Am. J. Hum. Genet, 98, pp.373~381 (2016)
83. Johnson, B. V., "Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor beta signaling", Biol. Psychiatry, 87, pp.100~112 (2020)
84. Smith, D. R., "Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans", PLoS ONE, 12, pp.e0187926~ (2017)
85. Wang, C., "Structure of the ZU5-ZU5-UPA-DD tandem of ankyrin-B reveals interaction surfaces necessary for ankyrin function", Proc. Natl Acad. Sci. USA, 109, pp.4822~4827 (2012)
86. Kizhatil, K., "Ankyrin-G and beta2-spectrin collaborate in biogenesis of lateral membrane of human bronchial epithelial cells", J. Biol. Chem, 282, pp.2029~2037 (2007)
87. Jenkins, P. M., "Giant ankyrin-G: a critical innovation in vertebrate evolution of fast and integrated neuronal signaling", Proc. Natl Acad. Sci. USA, 112, pp.957~964 (2015)
88. Rasband, M. N., "The axon initial segment and the maintenance of neuronal polarity", Nat. Rev. Neurosci, 11, pp.552~562 (2010)
89. Tseng, W. C., "Giant ankyrin-G stabilizes somatodendritic GABAergic synapses through opposing endocytosis of GABAA receptors", Proc. Natl Acad. Sci. USA, 112, pp.1214~1219 (2015)
90. Li, J., "Potent and specific Atg8-targeting autophagy inhibitory peptides from giant ankyrins", Nat. Chem. Biol, 14, pp.778~787 (2018)
91. Leterrier, C., "End-binding proteins EB3 and EB1 link microtubules to ankyrin G in the axon initial segment", Proc. Natl Acad. Sci. USA, 108, pp.8826~8831 (2011)
92. Freal, A., "Cooperative interactions between 480 kDa ankyrin-G and EB proteins assemble the axon initial segment", J. Neurosci, 36, pp.4421~4433 (2016)
93. Kuijpers, M., "Dynein regulator NDEL1 controls polarized cargo transport at the axon initial segment", Neuron, 89, pp.461~471 (2016)
94. Del Rio, M., "The death domain of kidney ankyrin interacts with Fas and promotes Fas-mediated cell death in renal epithelia", J. Am. Soc. Nephrol, 15, pp.41~51 (2004)
95. Jung, K. M., "A key role for diacylglycerol lipase-alpha in metabotropic glutamate receptor-dependent endocannabinoid mobilization", Mol. Pharmacol, 72, pp.612~621 (2007)
96. Weimer, J. M., "Elevation of Hook1in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1", Biochem. Biophys. Res. Commun, 330, pp.1176~1181 (2005)
97. Sato, P. Y., "Interactions between ankyrin-G, Plakophilin-2, and Connexin43at the cardiac intercalated disc", Circ. Res, 109, pp.193~201 (2011)
98. Fukata, M., "Identification of PSD-95 palmitoylating enzymes", Neuron, 44, pp.987~996 (2004)
99. Lemonidis, K., "The zDHHC family of S-acyltransferases", Biochem. Soc. Trans, 43, pp.217~221 (2015)
100. Globa, A. K., "Protein palmitoylation in the development and plasticity of neuronal connections", Curr. Opin. Neurobiol, 45, pp.210~220 (2017)
101. Sanders, S. S., "Curation of the mammalian palmitoylome indicates a pivotal role for palmitoylation in diseases and disorders of the nervous system and cancers", PLoS Comput. Biol, 11, pp.e1004405~ (2015)
102. Smith, K. R., "Ankyrins: roles in synaptic biology and pathology", Mol. Cell. Neurosci, 91, pp.131~139 (2018)
103. He, M., "Cysteine 70 of ankyrin-G is S-palmitoylated and is required for function of ankyrin-G in membrane domain assembly", J. Biol. Chem, 287, pp.43995~44005 (2012)
104. Fujiwara, Y., "Structural basis for the membrane association of ankyrinG via palmitoylation", Sci. Rep, 6, pp.23981~ (2016)
105. "The 190 kDa Ankyrin-G isoform is required for the dendritic stability of neurons and its palmitoylation is altered by lithium" (2019)[URL]
106. He, M., "Ankyrin-G palmitoylation and betaII-spectrin binding to phosphoinositide lipids drive lateral membrane assembly", J. Cell Biol, 206, pp.273~288 (2014)
107. Shimell, J. J., "Regulation of hippocampal excitatory synapses by the Zdhhc5palmitoyl acyltransferase", J. Cell Sci, 134, pp.254276~ (2021)
108. Thomas, G. M., "Palmitoylation by DHHC5", 8 targets GRIP1 to dendritic endosomes to regulate AMPA-R trafficking, 2012, pp.73, 482~496
109. Zhao, Y., "Integrating genome-wide association study and expression quantitative trait locus study identifies multiple genes and gene sets associated with schizophrenia", Prog. Neuropsychopharmacol. Biol. Psychiatry, 81, pp.50~54 (2018)
110. Qin, X., "22q11.2 deletion syndrome and schizophrenia", Acta Biochim. Biophys. Sin, 52, pp.1181~1190 (2020)
111. Oishi, S., "Usp9x-deficiency disrupts the morphological development of the postnatal hippocampal dentate gyrus", Sci. Rep, 6, pp.25783~ (2016)
112. Garver, T. D., "Tyrosine phosphorylation at a site highly conserved in the L1 family of cell adhesion molecules abolishes ankyrin binding and increases lateral mobility of neurofascin", J. Cell Biol, 137, pp.703~714 (1997)
113. Tuvia, S., "The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation", Proc. Natl Acad. Sci. USA, 94, pp.12957~12962 (1997)
114. Dai, J., "EphB regulates L1 phosphorylation during retinocollicular mapping", Mol. Cell. Neurosci, 50, pp.201~210 (2012)
115. Brechet, A., "Protein kinase CK2 contributes to the organization of sodium channels in axonal membranes by regulating their interactions with ankyrin G", J. Cell Biol, 183, pp.1101~1114 (2008)
116. Lux, S. E., "Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins", Nature, 344, pp.36~42 (1990)
117. Papandreou, M. J., "CK2-regulated schwannomin-interacting protein IQCJSCHIP-1 association with AnkG contributes to the maintenance of the axon initial segment", J. Neurochem, 134, pp.527~537 (2015)
118. Dupont, S., "FAM", USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination, 2009, pp.136, 123~135
119. Stegeman, S., "Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFbeta-mediated axonogenesis", PLoS ONE, 8, pp.e68287~ (2013)
120. Akhurst, R. J., "Targeting the TGFbeta signalling pathway in disease", Nat. Rev. Drug Discov, 11, pp.790~811 (2012)
121. Yoon, S., "TGF-beta-induced phosphorylation of Usp9X stabilizes Ankyrin-G and regulates dendritic spine development and maintenance", Cell Rep, 31, pp.107685~ (2020)
122. Naik, E., "Usp9X is required for lymphocyte activation and homeostasis through its control of ZAP70 ubiquitination and PKCbeta kinase activity", J. Immunol, 196, pp.3438~3451 (2016)
123. Humphrey, S. J., "Dynamic adipocyte phosphoproteome reveals that Akt directly regulates mTORC2", Cell Metab, 17, pp.1009~1020 (2013)
124. Kane, E. I., "Structural insights into ankyrin repeat-containing proteins and their influence in ubiquitylation", Int. J. Mol. Sci, 22, pp.609~ (2021)
125. Li, Y., "Spatiotemporal control of TGF-beta signaling with light", ACS Synth. Biol, 7, pp.443~451 (2018)

관련 논문AI추천