Tau mis-splicing in the pathogenesis of neurodegenerative disorders

키워드

참고문헌 (99)

1. Dixit R, "Differential regulation of dynein and kinesin motor proteins by tau", Science, 319, pp.1086~1089 (2008)
2. Munoz DG, "Neuropathology of hereditary forms of frontotemporal dementia and parkinsonism", Handb Clin Neurol, 89, pp.393~414 (2008)
3. Togo T, "Argyrophilic grain disease is a sporadic 4-repeat tauopathy", J Neuropathol Exp Neurol, 61, pp.547~556 (2002)
4. Arai T, "Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick's disease, corticobasal degeneration and progressive supranuclear palsy", Acta Neuropathol, 101, pp.167~173 (2001)
5. Sergeant N, "Dysregulation of human brain microtubuleassociated tau mRNA maturation in myotonic dystrophy type 1", Hum Mol Genet, 10, pp.2143~2155 (2001)
6. Braak H, "Neuropathological stageing of Alzheimer-related changes", Acta Neuropathol, 82, pp.239~259 (1991)
7. Wang Y, "Tau in physiology and pathology", Nat Rev Neurosci, 17, pp.22~35 (2016)
8. Ballatore C, "Tau-mediated neurodegeneration in Alzheimer's disease and related disorders", Nat Rev Neurosci, 8, pp.663~672 (2007)
9. Sanders DW, "Distinct tau prion strains propagate in cells and mice and define different tauopathies", Neuron, 82, pp.1271~1288 (2014)
10. Brunden KR, "Advances in tau-focused drug discovery for Alzheimer's disease and related tauopathies", Nat Rev Drug Discov, 8, pp.783~793 (2009)
11. Goedert M, "Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease", Neuron, 3, pp.519~526 (1989)
12. Niblock M, "Tau alternative splicing in familial and sporadic tauopathies", Biochem Soc Trans, 40, pp.677~680 (2012)
13. Andreadis A, "Tau gene alternative splicing:expression patterns, regulation and modulation of function in normal brain and neurodegenerative diseases", Biochim Biophys Acta, 1739, pp.91~103 (2005)
14. Neve RL, "Identification of cDNA clones for the human microtubuleassociated protein tau and chromosomal localization of the genes for tau and microtubuleassociated protein 2", Brain Res, 387, pp.271~280 (1986)
15. Goedert M, "Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization", EMBO J, 9, pp.4225~4230 (1990)
16. Brandt R, "Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain", J Cell Biol, 131, pp.1327~1340 (1995)
17. Chen J, "Projection domains of MAP2 and tau determine spacings between microtubules in dendrites and axons", Nature, 360, pp.674~677 (1992)
18. Lee G, "The microtubule binding domain of tau protein", Neuron, 2, pp.1615~1624 (1989)
19. Feinstein SC, "Inability of tau to properly regulate neuronal microtubule dynamics: a loss-of-function mechanism by which tau might mediate neuronal cell death", Biochim Biophys Acta, 1739, pp.268~279 (2005)
20. Goode BL, "Structural and functional differences between 3-repeat and 4-repeat tau isoforms. Implications for normal tau function and the onset of neurodegenetative disease", J Biol Chem, 275, pp.38182~38189 (2000)
21. Adams SJ, "Three repeat isoforms of tau inhibit assembly of four repeat tau filaments", PLoS One, 5, pp.e10810~ (2010)
22. Panda D, "Differential regulation of microtubule dynamics by three- and four-repeat tau: implications for the onset of neurodegenerative disease", Proc Natl Acad Sci U S A, 100, pp.9548~9553 (2003)
23. Stoothoff W, "Differential effect of three-repeat and four-repeat tau on mitochondrial axonal transport", J Neurochem, 111, pp.417~427 (2009)
24. Goedert M, "Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain", EMBO J, 8, pp.393~399 (1989)
25. Hof PR, "Quantitative neuropathologic analysis of Pick's disease cases: cortical distribution of Pick bodies and coexistence with Alzheimer's disease", Acta Neuropathol, 87, pp.115~124 (1994)
26. Caillet-Boudin ML, "Regulation of human MAPT gene expression", Mol Neurodegener, 10, pp.28~ (2015)
27. Trabzuni D, "MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies", Hum Mol Genet, 21, pp.4094~4103 (2012)
28. Boutajangout A, "Expression of tau mRNA and soluble tau isoforms in affected and non-affected brain areas in Alzheimer's disease", FEBS Lett, 576, pp.183~189 (2004)
29. Derisbourg M, "Role of the Tau N-terminal region in microtubule stabilization revealed by new endogenous truncated forms", Sci Rep, 5, pp.9659~ (2015)
30. Zhong Q, "Tau isoform composition influences rate and extent of filament formation", J Biol Chem, 287, pp.20711~20719 (2012)
31. Liu C, "Co-immunoprecipitation with tau isoform-specific antibodies reveals distinct protein interactions, and highlights a putative role for 2N tau in disease", J Biol Chem, 291, pp.8173~8188 (2016)
32. Will CL, "Spliceosome structure and function", Cold Spring Harb Perspect Biol, 3, pp.a003707~ (2011)
33. Qian W, "Regulation of alternative splicing of tau exon 10", Neurosci Bull, 30, pp.367~377 (2014)
34. Kar A, "RBM4interacts with an intronic element and stimulates tau exon 10 inclusion", J Biol Chem, 281, pp.24479~24488 (2006)
35. Jiang Z, "Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta", J Biol Chem, 278, pp.18997~19007 (2003)
36. Kar A, "RNA helicase p68(DDX5)regulates tau exon 10 splicing by modulating a stem-loop structure at the 5' splice site", Mol Cell Biol, 31, pp.1812~1821 (2011)
37. Wang Y, "Heterogeneous nuclear ribonucleoprotein E3 modestly activates splicing of tau exon 10 via its proximal downstream intron, a hotspot for frontotemporal dementia mutations", Gene, 451, pp.23~31 (2010)
38. Broderick J, "Heterogeneous nuclear ribonucleoprotein E2 binds to tau exon 10 and moderately activates its splicing", Gene, 331, pp.107~114 (2004)
39. Dhaenens CM, "Mis-splicing of Tau exon 10 in myotonic dystrophy type 1is reproduced by overexpression of CELF2 but not by MBNL1 silencing", Biochim Biophys Acta, 1812, pp.732~742 (2011)
40. Chapple JP, "Expression, localization and tau exon 10splicing activity of the brain RNA-binding protein TNRC4", Hum Mol Genet, 16, pp.2760~2769 (2007)
41. Smith PY, "MicroRNA-132loss is associated with tau exon 10 inclusion in progressive supranuclear palsy", Hum Mol Genet, 20, pp.4016~4024 (2011)
42. Chen C, "Cyclic AMPdependent protein kinase enhances SC35-promoted Tau exon 10 inclusion", Mol Neurobiol, 49, pp.615~624 (2014)
43. Gu J, "Cyclic AMP-dependent protein kinase regulates 9G8-mediated alternative splicing of tau exon 10", FEBS Lett, 586, pp.2239~2244 (2012)
44. Jin N, "Truncation and Activation of Dual Specificity Tyrosine Phosphorylation-regulated Kinase 1A by Calpain I: A MOLECULAR MECHANISM LINKED TO TAU PATHOLOGY IN ALZHEIMER DISEASE", J Biol Chem, 290, pp.15219~15237 (2015)
45. Ding S, "Regulation of alternative splicing of tau exon 10 by 9G8 and Dyrk1A", Neurobiol Aging, 33, pp.1389~1399 (2012)
46. Qian W, "Regulation of the alternative splicing of tau exon 10 by SC35 and Dyrk1A", Nucleic Acids Res, 39, pp.6161~6171 (2011)
47. Shi J, "Increased dosage of Dyrk1A alters alternative splicing factor(ASF)-regulated alternative splicing of tau in Down syndrome", J Biol Chem, 283, pp.28660~28669 (2008)
48. Chen KL, "Amyloidbeta peptide alteration of tau exon-10 splicing via the GSK3beta-SC35 pathway", Neurobiol Dis, 40, pp.378~385 (2010)
49. Lev Maor G, "The alternative role of DNA methylation in splicing regulation", Trends Genet, 31, pp.274~280 (2015)
50. Caffrey TM, "Haplotype-specific expression of the N-terminal exons 2and 3 at the human MAPT locus", Neurobiol Aging, 29, pp.1923~1929 (2008)
51. Caffrey TM, "Functional MAPT haplotypes: bridging the gap between genotype and neuropathology", Neurobiol Dis, 27, pp.1~10 (2007)
52. Pittman AM, "Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration", J Med Genet, 42, pp.837~846 (2005)
53. McCarthy A, "Closing the tau loop: the missing tau mutation", Brain, 138, pp.3100~3109 (2015)
54. Malkani R, "A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia", Neurobiol Dis, 22, pp.401~403 (2006)
55. Kowalska A, "A novel mutation at position ＋11 in the intron following exon 10 of the tau gene in FTDP-17", J Appl Genet, 43, pp.535~543 (2002)
56. Yasuda M, "A novel mutation at position ＋12 in the intron following exon 10of the tau gene in familial frontotemporal dementia(FTD-Kumamoto)", Ann Neurol, 47, pp.422~429 (2000)
57. Hutton M, "Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17", Nature, 393, pp.702~705 (1998)
58. Spillantini MG, "Mutation in the tau gene in familial multiple system tauopathy with presenile dementia", Proc Natl Acad Sci U S A, 95, pp.7737~7741 (1998)
59. Anfossi M, "Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia", Neurobiol Aging, 32, pp.757.e1~757.e11 (2011)
60. Stanford PM, "Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia", Brain, 126, pp.814~826 (2003)
61. Stanford PM, "Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene:expansion of the disease phenotype caused by tau gene mutations", Brain, 123, pp.880~893 (2000)
62. Spillantini MG, "A novel tau mutation(N296N)in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies", Ann Neurol, 48, pp.939~943 (2000)
63. D'Souza I, "Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements", Proc Natl Acad Sci U S A, 96, pp.5598~5603 (1999)
64. Umeda T, "Neurodegenerative disorder FTDP-17-related tau intron 10 ＋16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice", Am J Pathol, 183, pp.211~225 (2013)
65. Ghetti B, "Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging", Neuropathol Appl Neurobiol, 41, pp.24~46 (2015)
66. Hayashi S, "Late-onset frontotemporal dementia with a novel exon 1(Arg5His)tau gene mutation", Ann Neurol, 51, pp.525~530 (2002)
67. Poorkaj P, "An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype", Ann Neurol, 52, pp.511~516 (2002)
68. Grover A, "A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy", Exp Neurol, 184, pp.131~140 (2003)
69. Ros R, "A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy", Arch Neurol, 62, pp.1444~1450 (2005)
70. Tacik P, "A novel tau mutation, p. K317N, causes globular glial tauopathy", Acta Neuropathol, 130, pp.199~214 (2015)
71. Lippa CF, "Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation", Ann Neurol, 48, pp.850~858 (2000)
72. de Silva R, "An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R-and 4R-specific tau monoclonal antibodies", Acta Neuropathol, 111, pp.329~340 (2006)
73. Baker M, "Association of an extended haplotype in the tau gene with progressive supranuclear palsy", Hum Mol Genet, 8, pp.711~715 (1999)
74. Pittman AM, "Untangling the tau gene association with neurodegenerative disorders", Hum Mol Genet, 15(Spec No 2), pp.R188~R195 (2006)
75. Rademakers R, "High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy", Hum Mol Genet, 14, pp.3281~3292 (2005)
76. Houlden H, "Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype", Neurology, 56, pp.1702~1706 (2001)
77. Li Y, "An epigenetic signature in peripheral blood associated with the haplotype on 17q21. 31, a risk factor for neurodegenerative tauopathy", PLoS Genet, 10, pp.e1004211~ (2014)
78. Sobrido MJ, "Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia", Arch Neurol, 60, pp.698~702 (2003)
79. Bruch J, "Mitochondrial complex 1 inhibition increases 4-repeat isoform tau by SRSF2 upregulation", PLoS One, 9, pp.e113070~ (2014)
80. McMillan P, "Tau isoform regulation is region-and cell-specific in mouse brain", J Comp Neurol, 511, pp.788~803 (2008)
81. Majounie E, "Variation in tau isoform expression in different brain regions and disease states", Neurobiol Aging, 34, pp.1922.e7~1922.e12 (2013)
82. Fernandez-Nogales M, "Huntington's disease is a four-repeat tauopathy with tau nuclear rods", Nat Med, 20, pp.881~885 (2014)
83. Jiang H, "Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons", Hum Mol Genet, 13, pp.3079~3088 (2004)
84. Seznec H, "Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities", Hum Mol Genet, 10, pp.2717~2726 (2001)
85. Brook JD, "Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member", Cell, 68, pp.799~808 (1992)
86. The Huntington's Disease Collaborative Research Group, "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes", Cell, 72, pp.971~983 (1993)
87. Mykowska A, "CAG repeats mimic CUG repeats in the misregulation of alternative splicing", Nucleic Acids Res, 39, pp.8938~8951 (2011)
88. Deng HX, "FUSimmunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis", Ann Neurol, 67, pp.739~748 (2010)
89. Neumann M, "Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis", Science, 314, pp.130~133 (2006)
90. Gitcho MA, "TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy", Acta Neuropathol, 118, pp.633~645 (2009)
91. Kwiatowski TJ Jr, "Mutations in the FUS", TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis, 2009, pp.323, 1205~1208
92. Buratti E, "Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping", EMBO J, 20, pp.1774~1784 (2001)
93. Yang L, "TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins", Mol Cell Biol, 20, pp.3345~3354 (2000)
94. Orozco D, "Loss of fused in sarcoma(FUS)promotes pathological Tau splicing", EMBO Rep, 13, pp.759~764 (2012)
95. Tollervey JR, "Characterizing the RNA targets and position-dependent splicing regulation by TDP-43", Nat Neurosci, 14, pp.452~458 (2011)
96. Highley JR, "Loss of nuclear TDP-43 in amyotrophic lateral sclerosis(ALS)causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones", Neuropathol Appl Neurobiol, 40, pp.670~685 (2014)
97. Liu Y, "Templatedirected synthesis of a small molecule-antisense conjugate targeting an mRNA structure", Bioorg Chem, 54, pp.7~11 (2014)
98. Kalbfuss B, "Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17", J Biol Chem, 276, pp.42986~42993 (2001)
99. Rodriguez-Martin T, "Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing", Hum Mol Genet, 18, pp.3266~3273 (2009)

관련 논문AI추천