Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy

Drug Discovery Today: Technologies

Volumn 10, Issue 1, 2013, Pages

  Chartier, Aymeric ^a   Simonelig, Martine ^a  

^a INSTITUTE OF HUMAN GENETICS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRIC ACID; CONGO RED; CYSTAMINE; DIMETHYL SULFOXIDE; DOXYCYCLINE; GUANABENZ; IBUPROFEN; LACTACYSTIN; RESVERATROL; RIBOSOME RNA; SIRTINOL; TREHALOSE; ZINC SULFATE;

ANIMAL MODEL; CAENORHABDITIS ELEGANS; DROSOPHILA; DRUG SCREENING; NONHUMAN; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; REVIEW; WNT SIGNALING PATHWAY;

ANIMALS; DISEASE MODELS, ANIMAL; DRUG DISCOVERY; HUMANS; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL;

EID: 84875691110     PISSN: None     EISSN: 17406749     Source Type: Journal    
DOI: 10.1016/j.ddtec.2012.07.002     Document Type: Review

References (44)

1. T.E. Lloyd, and J.P. Taylor Flightless flies: Drosophila models of neuromuscular disease Ann. N.Y. Acad. Sci. 1184 2010 e1 e20
2. U.B. Pandey, and C.D. Nichols Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery Pharmacol. Rev. 63 2011 411 436
3. A. Abu-Baker, and G.A. Rouleau Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies Biochim. Biophys. Acta 1772 2007 173 185
4. J.E. Davies Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder Int. J. Biochem. Cell Biol. 38 2006 1457 1462
5. S. Perie Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy: therapeutic perspectives of autologous myoblast transplantation Neuromuscular Disorders: NMD 16 2006 770 781
6. B. Brais Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy Nat. Genet. 18 1998 164 167
7. F.M. Tome, and M. Fardeau Nuclear inclusions in oculopharyngeal dystrophy Acta Neuropathol. (Berl.) 49 1980 85 87
8. A. Abu-Baker Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy Hum. Mol. Genet. 12 2003 2609 2623
9. Y.P. Bao Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy J. Med. Genet. 41 2004 47 51
10. A. Calado Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein II aggregates which sequester poly(A) RNA Hum. Mol. Genet. 9 2000 2321 2328
11. J.P. Tavanez Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1 PLoS One 4 2009 e6418
12. L.P. Corbeil-Girard PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions Neurobiol. Dis. 18 2005 551 567
13. X. Fan HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy Can. J. Neurol. Sci. 30 2003 244 251
14. S.Y. Anvar Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients Skeletal Muscle 1 2011 15
15. B. Benoit An essential cytoplasmic function for the nuclear poly(A) binding protein, PABP2, in poly(A) tail length control and early development in Drosophila Dev. Cell 9 2005 511 522
16. B. Benoit The Drosophila poly(A)-binding protein II is ubiquitous throughout Drosophila development and has the same function in mRNA polyadenylation as its bovine homolog in vitro Nucleic Acids Res. 27 1999 3771 3778
17. Y. Kerwitz Stimulation of poly(A) polymerase through a direct interaction with the nuclear poly(A) binding protein allosterically regulated by RNA EMBO J. 22 2003 3705 3714
18. U. Kuhn Poly(A) tail length is controlled by the nuclear poly(A)-binding protein regulating the interaction between poly(A) polymerase and the cleavage and polyadenylation specificity factor J. Biol. Chem. 284 2009 22803 22814
19. M. Jenal The poly(a)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites Cell 149 2012 538 553
20. M. Simonelig PABPN1 shuts down alternative poly(A) sites Cell Res. 2012 10.1038/cr.2012.86
21. L.H. Apponi Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis Hum. Mol. Genet. 19 2010 1058 1065
22. A. Chartier A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1 EMBO J. 25 2006 2253 2262
23. J.E. Davies, and D.C. Rubinsztein Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy Hum. Mol. Genet. 20 2011 1154 1163
24. J.E. Davies Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation Hum. Mol. Genet. 17 2008 1097 1108
25. Y.P. Bao Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy J. Biol. Chem. 277 2002 12263 12269
26. Q. Wang Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells Hum. Mol. Genet. 14 2005 3673 3684
27. J.E. Davies Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy Hum. Mol. Genet. 15 2006 23 31
28. J.E. Davies Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice Nat. Med. 11 2005 672 677
29. N. Barbezier Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy EMBO Mol. Med. 3 2011 35 49
30. S. Bach Isolation of drugs active against mammalian prions using a yeast-based screening assay Nat. Biotechnol. 21 2003 1075 1081
31. D. Tribouillard-Tanvier Protein folding activity of ribosomal RNA is a selective target of two unrelated antiprion drugs PLoS One 3 2008 e2174
32. D. Tribouillard-Tanvier Antihypertensive drug guanabenz is active in vivo against both yeast and mammalian prions PLoS One 3 2008 e1981
33. P. Verheesen Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody Hum. Mol. Genet. 15 2006 105 111
34. A. Chartier Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo Hum. Mol. Genet. 18 2009 1849 1859
35. H. Catoire Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1 Hum. Mol. Genet. 17 2008 2108 2117
36. Y.J. Kim The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein II, interacts with SKIP and stimulates muscle-specific gene expression Hum. Mol. Genet. 10 2001 1129 1139
37. M.Y. Pasco Characterization of sirtuin inhibitors in nematodes expressing a muscular dystrophy protein reveals muscle cell and behavioral protection by specific sirtinol analogues J. Med. Chem. 53 2010 1407 1411
38. M.Y. Pasco Cross-talk between canonical Wnt signaling and the sirtuin-FoxO longevity pathway to protect against muscular pathology induced by mutant PABPN1 expression in C. elegans Neurobiol. Dis. 38 2010 425 433
39. H. Hino Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy Hum. Mol. Genet. 13 2004 181 190
40. A. Mankodi Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy Neurobiol. Dis. 45 2012 539 546
41. P. Dion Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice Neurobiol. Dis. 18 2005 528 536
42. C. Trollet Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres Hum. Mol. Genet. 19 2010 2191 2207
43. J.E. Davies Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy Sci. Trans. Med. 2 2010 34ra40
44. J. Giacomotto Caenorhabditis elegans as a chemical screening tool for the study o f neuromuscular disorders. Manual and semi-automated methods Methods 56 2012 103 113