TAUOPATHIES: A DISTINCT CLASS OF NEURODEGENERATIVE DISEASES
Ozansoy M, Ba*ak AN
*Corresponding Author: A.Nazl* Ba*ak, Bo*aziçi University, Department of Molecular Biology and Genetics, 34342, Bebek, Istanbul; Tel.: +212-359-66-79; Fax: +212-359-72-98; E-mail:basak@boun.edu.tr
page: 3

REFERENCES

 

1. Buée L, Bussiére T, Buée-Scherrer V, Delacourte A , Hof PR. Tau protein isoforms, phosphorylation and role in neurodegenerative disorders. Brain Res Rev, 2000; 33(1): 95-130.

2. Iqbal K, Alonso AC, Chen S, Chohan MO, El-Akkad E, Gong CX, Khatoon S, Li B, Liu F, Rahman A, Tanimukai H, Grundke-Iqbal I. Tau pathology in Alzheimer disease and other tauopathies. Biochim Biophys Acta 2005; 1739(2-3): 198-210.

3. Hardy JA, Higgins GA. Alzheimer’s disease: the amyloid cascade hypothesis. Science 1992; 256(5054): 184-185.

4. Buée-Scherrer V, Buée L, Leveugle D, Perl P, Ver mesch P, Hof PR, Delacourte A. Pathological tau proteins in postencephalitic parkinsonism: comparison with Alzheimer’s disease and other neurodegenerative disorders. Ann Neurol 1997; 42(3): 356-359.

5. Tolnay M, Probst A. The neuropathological spectrum of neurodegenerative tauopathies. Int UnionBiochem Mol Biol Life 2003; 55(6): 299-305.

6. Albers DS, Augood SJ. New insights into progressive supranuclear palsy. Trends Neurosci 2001; 24(6): 347-352.

7. Molinuevo JL, Valldeoriola F, Alegret M, Oliva R, Tolosa E. Progressive supranuclear palsy: earlier age of onset in patients with the ô protein A0/A0 genotype. J Neurol 2000; 247(3): 206-208.

8. Stanford PM, Halliday GM, Brooks WS, Kwok JBJ, Storey CE, Creasey H, Morris JGL, Fulham MJ, Schofield PR. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene. Brain 2000; 123(5): 880-893.

9. Rojo A, Pernaute RS, Fontan A, Ruiz PG, Honnorat J, Lynch T, Chin S, Gonzalo I, Rabano A, Martinez A, Daniel S, Pramsteller P, Morris H, Wood N, Lees A, Tabernero C, Nyggard T, Jackson AC, Hanson A, de Yébenes JG. Clinical genetics of familial progressive supranuclear palsy. Brain 1999; 122(7):1233-1245.

10. Higgins JJ, Rima L, Adler BA, Loveless JM. Mutational analysis of the tau gene in progressive supranuclear palsy. Neurology 1999; 2(7): 1421-1424.

11. Bergeron C, Davis A, Lang AE. Corticobasal ganglionic degeneration and progressive supranuclear palsy presenting with cognitive decline. Brain Pathol 1998; 8(2): 355-365.

12. Spillantini MG, Bird TD, Ghetti B. Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of taupathies. Brain Pathol 1998; 8(2): 387-402.

13. Buée L, Delacourte A. Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick’s disease.Brain Pathol 1999; 9(4): 681-693.

14. Virginia M, Lee Y, Trojanowski JQ. Neurodegen erative tauopathies: human disease and transgenic mouse models. Neuron 1999; 24(3):507-510

15. Heutink P. Untangling tau-related dementia. Hum Mol Genet 2000; 9(6): 979-986.

16. Jaspert A, Fahsold R, Grehl H, Claus D. Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol 1995; 242(2): 99-104.

17. Hof PR, Bouras C, Perl DP, Sparks DL, Mehta N, Morrison JH. Age-related distribution of neuropathologic changes in the cerebral cortex of patients with Down’s syndrome. Arch Neurol 1995; 52(4):379-391.

18. Loftus SK, Morris JA, Carstea ED, Gu JZ, Cum mings C, Brown A, Ellison J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG, Pavan WJ. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 1997; 277(5323):232-235.

19. Love S, Bridges LR, Case CP. Neurofibrillary tangles in Niemann-Pick disease type C. Brain 1995; 118(1): 119-129.

20. Auer IA, Schmidt ML, Lee VMY, Curry B,Suzuki K, Shin RW, Pentchev PG, Carstea ED, Trojanowski JQ. Paired helical filament tau (PHF-tau) in Niemann-Pick tytpe C disease is similar to PHF-tau in Alzheimer’s disease. Acta Neuropathol 1995; 90(6):547-551.

21. Sergeant N, Delacourte A, Buée L. Tau protein as a differential biomarker of tauopathies. Biochim Biophys Acta 2005; 1739(2-3): 179-197.

22. Andreadis A, Wagner BK, Broderick JA, Kosik KS. A tau promoter region without neuronal speci-ficity. J Neurochem 1996; 66(6): 2257-2263.

23. Heicklen-Klein A, Ginzburg I. Tau promoter confers neuronal specificity and binds Sp1 and AP-2. J Neuro chem 2000; 75(4): 1408-1418.

24. Andreadis A, Brown WM, Kosik KS. Structure and novel exons of the human tau gene. Biochemistry 1992; 31(43): 10626-10633.

25. Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat 2004; 24(4):277-295.

26. Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA. Multiple isoforms of human micro-tubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer’s disease. Neuron 1989; 3(4): 519-526.

27. Goedert M, Spillantini MG, Potier MC, Ulrich J, Crowther RA. 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 1989; 8(2): 393-399.

28. Brandt R, Leger J, Lee G. Interaction of tau with the neural plasma membrane mediated by tau’s amino-terminal projection domain. J Cell Biol 1995;131(5): 1327-1340.

29. Hirokawa N, Shiomura Y, Okabe S. Tau proteins: the molecular structure and mode of binding on microtu bules. J Cell Biol 1988; 107(4): 1449-1459.

30. Harada A, Oguchi K, Okabe S, Kuno J, Terada S, Ohshima T, Sato-Yoshitake R, Takei Y, Noda T, Hiro kawa N. Altered microtubule organization in small-calibre axons of mice lacking tau protein. Nature 1994; 369(6480): 488-491.

31. Dawson HN, Ferreira A, Eyster MV, Ghoshal N, Binder LI, Vitek MP. Inhibition of neuronal maturation in primary hippocampal neurons from tau defi-cient mice. J Cell Sci 2001; 114(6): 1179-1187.

32. Haltiwanger RS, Busby S, Grove K, Li S, Mason D, Medina L, Moloney D, Philipsberg G, Scartozzi R. O-glycosylation of nuclear and cytoplasmic proteins: regulation analogous to phosphorylation?. Biochem Biophys Res Commun 1997; 231(2): 237-242.

33. Kreppel LK, Blomberg MA, Hart GW. Dynamic glycosylation of nuclear and cytosolic proteins. J Biol Chem 1997; 272(14): 9308-9315.

34. Kamemura K, Hart GW. Dynamic interplay between O-glycosylation and O-phosphorylation of nucleo cytoplasmic proteins: a new paradigm for metabolic control of signal transduction and transcription. Prog Nucleic Acid Res Mol Biol 2003; 73: 107-136.

35. Dong DL, Xu ZS, Hart GW, Cleveland DW. Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H. J Biol Chem 1996; 271(34):20845-20852.

36. Lovestone S, Reynolds CH. The phosphorylation of tau: a critical stage in neurodevelopment and neuro degenerative processes. Neuroscience 1997;78(2): 309-324.

37. Seubert P, Mawal-Dewan M, Barbour R, Jakes R, Goedert M, Johnson GV, Litersky JM, Schenk D, Ozansoy M, BaÕak AN Lieber burg L, Trojanowski JQ. Detection of phosphorylated Ser262 in fetal tau, adult tau and paired helical filament tau. J Biol Chem 1995; 270(32):18917-18922.

38. Goedert M, Hasegawa M, Jakes R, Lawler S, Cuenda A, Cohen P. Phosphorylation of microtubuleassociated protein tau by stress-activated protein kinases. FEBS Lett 1997; 409(1): 57-62.

39. Hayashi S, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H. Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann Neurol 2002; 51(4): 525-530.

40. Hasegawa M, Smith MJ, Iijima M, Tabira T, Goedert M. FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett 1999; 443(2): 93-96.

41. Jiang Z, Cote J, Kwon JM, Goate AM, Wu JY. Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia fronto temporal dementia with parkinsonism linked to chromosome 17. Mol Cell Biol 2000; 20(11):4036-4048.

42. Janssen JC, Warrington EK, Morris HR, Lantos

P, Brown J, Revesz T, Wood N, Khan MN, Cipolotti L, Fox NC, Rossor MN. Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 2002; 58(8): 1161-1168.43. Hutton M. Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. Neurology 2001; 56(11 Suppl 4): S-1-S25.

44. Poorkaj P, Grossman M, Steinbart E, Payami H, Sdaovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 2001; 58(3): 383-387.

45. Grover A, Houlden H, Baker M, Adamson J, Lewis J, Prihar G, Pickering-Brown S, Duff K, Hutton M. 5’ Splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J Biol Chem 1999; 274(21): 15134-15143.

46. Spillantini MG, Murrell JR, Goedert M, FarlowMR, Klug A, Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998; 95(13):7737-7741.

47. Varani L, Hasegawa M, Spillantini MG, Smith MJ, Murrell JR, Ghetti B, Klug A, Goedert M, Varani G. Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc Natl Acad Sci USA 1999; 96(14):8229-8234.

48. Hasegawa M, Smith MJ, Goedert M. Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 1998; 437(3): 207-210.

49. Spillantini MG, van Swieten JC, Goedert M.,Tau gene mutations in frontotemporal dementia and parkin sonism linked to chromosome 17 (FTDP-17). Neuro genetics 2000; 2(4): 193-205.

50. Yen S, Easson C, Nacharaju P, Hutton M, Yen SH. FTDP-17 tau mutations decrease the susceptibility of tau to calpain 1 digestion. FEBS Lett 1999; 461(1-2): 91-95.

51. Chiti F, Stefani M, Taddei N, Ramponi G, Dobson CM. Rationalization of the effects of mutations on peptide and protein aggregation rates. Nature 2003; 424(6950): 805-808.

52. Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal LJ, Katzman R, Xia Y, Saitoh T. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997; 41(2): 277-281.

53. Oliva R, Tolosa E, Ezquerra M, Molinuevo JL, Valldeoriola F, Burguera J, Calopa M, Villa M, Ballesta F. Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. Arch Neurol 1998; 55(8):1122-1124.

54. Bennett P, Bonifati V, Bonuccelli U, Colosimo C, de Mari M, Fabbrini G, Marconi R, Meco, G, Nicholl DJ, Stocchi F, Vanacore N, Vieregge P, Williams AC. Direct genetic evidence for involvement of tau in progressive supranuclear palsy. Neurology 1998; 51(4): 982-985.

55. Morris HR, Janssen JC, Bandmann O, Daniel SR, Rossor, MN, Lees AJ, Wood NW. The tau gene A0 polymorphism in progressive supranuclear palsy andrelated neurodegenerative diseases. J Neurol NeurosurgPsychiatry 1999; 66(5): 665-667.56. Higgins JJ, Golbe LI, de Biase A, Jankovic J, Factor SA, Adler RL. An extended 5’-tau susceptibility haplo type in progressive supranuclear palsy. Neurology 2000; 55(9): 1364-1367.

57. Hoenicka J, Perez M, Perez-Tur J, BarabashA, Godoy M, Vidal L, Astarloa R, Avila J, Nygaard T, de Yebenes JG. The tau gene A0 allele and progressive supra nuclear palsy. Neurology 1999; 1(2):1219-1225.

58. Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 1999; 8(4): 711-715.

59. Morris HR, Khan MN, Janssen JC, Brown JM,Perez-Tur J, Baker M, Ozansoy M, Hardy J, Hutton M, Wood NW,Lees AJ, Revesz T, Lantos P, Rossor MN. The genetic and pathological classification of familial fronto temporal dementia. Arch Neurol 2001; 58(11):1813-1816.

60. Houlden H, Baker M, Adamson J, Grover A,Waring S, Dickson D, Lynch T, Boeve B, Petersen RC, Pickering-Brown S, Owen F, Neary D, Craufurd D, Snow den J, Mann D, Hutton M. Frequency of tau mutations in three series of non-Alzheimer’s degenerative dementia. Ann Neurol 1999; 46(2): 243-248.

61. Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, RossorMN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, George-Hyslop P, Munoz DG, Mann D, Lang AE, Ber geron C, Bigio EH, Litvan I, Bhatia KP, Dickson D, Wood NW, Hutton M. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 2001; 56(12): 1702-1706.

62. Conrad C, Vianna C, Freeman M, Davies P. Saito hin, a novel putative gene in the tau locus. Proc Natl Acad Sci USA 2002; 99(11): 7751-7756.

63. de Silva R, Hope A, Pittman A, Weale ME, Morris HR, Wood NW, Lees AJ. Strong association of the saito hin gene Q7 variant with progressive supranuclear palsy. Neurology 2003; 61(3): 407-409.

64. Russ C, Lovestone S, Baker M, Pickering-Brown SM, Andersen PM, Furlong R, Mann D, Powell JF. The extended haplotype of the microtubule associated protein tau gene is not associated with Pick’s disease. Neurosci Lett 2001; 299(1-2): 156-158.

65. Morris HR, Baker M, Yasojima K, Houlden H, Khan MN, Wood NW, Hardy J, Grossman M, Trojanowski J, Revesz T, Bigio EH, Bergeron C, Janssen JC, McGeer PL, Rossor MN, Lees AJ, Lantos PL, Hutton M. Analysis of tau haplotypes in Pick’s disease. Neurology 2002; 59(3): 443-445.





Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006