The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy

Neuromuscular Disorders

Volumn 25, Issue 9, 2015, Pages 699-705

  Harris, Ashlee W ^a   Butchbach, Matthew E R ^a,b,c  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

2,4 Diaminoquinazoline; D156844; Follistatin; Motor neuron disease; Neonatal mouse; Preclinical drug trial; Spinal muscular atrophy

Indexed keywords

5 [1 (2 FLUOROBENZYL)PIPERIDINE 4 YLMETHOXY]QUINAZOLINE 2,4 DIAMINE DIHYDROCHLORIDE; FOLLISTATIN; NEUROPROTECTIVE AGENT; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG; DCPS PROTEIN, MOUSE; QUINAZOLINE DERIVATIVE; RECOMBINANT PROTEIN; RIBONUCLEASE; SMN1 PROTEIN, RAT;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIINFLAMMATORY ACTIVITY; ARTICLE; BODY MASS; COHORT ANALYSIS; COMBINATION CHEMOTHERAPY; CONTROLLED STUDY; DRUG EFFECT; DRUG EFFICACY; DRUG RESPONSE; FEMALE; GENE EXPRESSION; GROWTH RATE; LOCOMOTION; MALE; MONOTHERAPY; MOTONEURON; MOTOR PERFORMANCE; MOUSE; NEUROPROTECTION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RIGHTING REFLEX; SMN2 GENE; SPINAL MUSCULAR ATROPHY; SURVIVAL TIME; ANIMAL; ANTAGONISTS AND INHIBITORS; BODY WEIGHT; COMBINATION DRUG THERAPY; DISEASE COURSE; DISEASE MODEL; DRUG EFFECTS; GENETICS; KAPLAN MEIER METHOD; MOTOR ACTIVITY; MUSCULAR ATROPHY, SPINAL; PATHOPHYSIOLOGY; TRANSGENIC MOUSE;

ANIMALS; BODY WEIGHT; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; DRUG THERAPY, COMBINATION; ENDORIBONUCLEASES; FEMALE; FOLLISTATIN; KAPLAN-MEIER ESTIMATE; MALE; MICE; MICE, TRANSGENIC; MOTOR ACTIVITY; MUSCULAR ATROPHY, SPINAL; QUINAZOLINES; RECOMBINANT PROTEINS; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84939568930     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.05.008     Document Type: Article

References (37)

1. Crawford T.O., Pardo C.A. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996, 3:97-110.
2. Lefebvre S., Bürglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
3. Lorson C.L., Hahnen E., Androphy E.J., Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999, 96:6307-6311.
4. Monani U.R., Lorson C.L., Parsons D.W., et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999, 8:1177-1183.
5. Coovert D.D., Le T.T., McAndrew P.E., et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997, 6:1205-1214.
6. Lefebvre S., Burlet P., Liu Q., et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997, 16:265-269.
7. C gene copy number. Am J Hum Genet 1997, 60:1411-1422.
8. Monani U.R., Sendtner M., Coovert D.D., et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 2000, 9:333-339.
9. Hsieh-Li H.M., Chang J.G., Jong Y.J., et al. A mouse model for spinal muscular atrophy. Nat Genet 2000, 24:66-70.
10. Michaud M., Arnoux T., Bielli S., et al. Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis 2010, 38:125-135.
11. Cherry J.J., Kobayashi D.T., Lynes M.M., et al. Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Assay Drug Dev Technol 2014, 12:315-341.
12. Jarecki J., Chen X., Bernardino A., et al. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet 2005, 14:2003-2018.
13. Thurmond J., Butchbach M.E.R., Palomo M., et al. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem 2008, 51:449-469.
14. Butchbach M.E.R., Singh J., orsteindóttir M., et al. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet 2010, 19:454-467.
15. Butchbach M.E.R., Singh J., Gurney M.E., Burghes A.H.M. The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice. Exp Neurol 2014, 256:1-6.
16. Van Meerbeke J.P., Gibbs R.M., Plasterer H.L., et al. The DcpS inhibitor RG3039 improves motor function in SMA mice. Hum Mol Genet 2013, 22:4074-4083.
17. Gogliotti R.G., Cardona H., Singh J., et al. The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models. Hum Mol Genet 2013, 22:4084-4101.
18. Singh J., Salcius M., Liu S.W., et al. DcpS as a therapeutic target for spinal muscular atrophy. ACS Chem Biol 2008, 3:711-722.
19. Rose F.F., Mattis V.B., Rindt H., Lorson C.L. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet 2009, 18:997-1005.
20. Le T.T., Pham L.T., Butchbach M.E.R., et al. SMNδ7, the major product of the centromeric survival motor neuron gene (SMN2), extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 2005, 14:845-857.
21. Butchbach M.E.R., Rose F.F., Rhoades S., et al. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 2010, 391:835-840.
22. Butchbach M.E.R., Edwards J.D., Schussler K.R., Burghes A.H.M. A novel method for oral delivery of compounds to the neonatal SMNδ7 model of spinal muscular atrophy. J Neurosci Methods 2007, 161:285-290.
23. Butchbach M.E.R., Edwards J.D., Burghes A.H.M. Abnormal motor phenotype in the SMNδ7 mouse model of spinal muscular atrophy. Neurobiol Dis 2007, 27:207-219.
24. Sumner C.J., Wee C.D., Warsing L.C., et al. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet 2009, 18:3145-3152.
25. Lee S.J., McPherron A.C. Regulation of myostatin activity and muscle growth. Proc Natl Acad Sci U S A 2001, 98:9306-9311.
26. Rodino-Klapac L.R., Haidet A.M., Kota J., Handy C., Kaspar B.K., Mendell J.R. Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease. Muscle Nerve 2009, 39:283-296.
27. Rindt H., Buckley D.M., Vale S.M., et al. Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of spinal muscular atrophy. Neuromuscul Disord 2012, 22:277-285.
28. Lee S.J. Quadrupling muscle mass in mice by targeting TGF-β signaling pathways. PLoS ONE 2007, 8:e789.
29. Cherry J.J., Osman E.Y., Evans M.C., et al. Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. EMBO Mol Med 2013, 5:1103-1118.
30. Naryshkin N.A., Weetall M., Dakka A., et al. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science 2014, 345:688-693.
31. Heier C.R., DiDonato C.J. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function of SMA mice in vivo. Hum Mol Genet 2009, 18:1310-1322.
32. Mattis V.B., Ebert A.D., Fosso M.Y., Chang C.W., Lorson C.L. Delivery of a read-through inducing compound, TC007, lessens the severity of a SMA animal model. Hum Mol Genet 2009, 18:3906-3913.
33. Mattis V.B., Fosso M.Y., Chang C.W., Lorson C.L. Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA. BMC Neurosci 2009, 10:142.
34. Mattis V.B., Chang C.W.T., Lorson C.L. Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy. Neurosci Lett 2012, 525:72-75.
35. Butchbach M.E.R., Le T.T., Burghes A.H.M. Protective effects of butyrate analogues and prodrugs on a mouse model for spinal muscular atrophy 2004, Society for Neuroscience 2004 Abstract Viewer/Itinerary Planner, 226.17.
36. Butchbach M.E.R., Simard L.R., Burghes A.H.M. SMN-independent amelioration of mouse spinal muscular atrophy by butyrate prodrugs 2005, Society for Neuroscience 2005 Abstract Viewer/Itinerary Planner, 338.7.
37. Bowerman M., Beauvais A., Anderson C.L., Kothary R. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 2010, 19:1468-1478.