Families of SMA Funded Research Articles in 2009.

Through December 8th 2009, FSMA is proud to have contributed funding to the research highlighted in the following 18 journal articles published so far this year.

1.    Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Gogliotti RG, Hammond SM, Lutz C, Didonato CJ.  Biochem Biophys Res Commun. (2009) Dec. 3. [Epub ahead of print] 
FSMA funding to Northwestern University. 

2.    Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs. Geib T and Heretel KJ. PLoS ONE (2009) 4: e8204.
FSMA funding to University of California, Irvine.

3.    Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Butchbach ME, Rose FF, Rhoades S, Marston J, McCrone JT, Sinnott R, Lorson CL. Biochem Biophys Res Commun. (2009) Nov 26. [Epub ahead of print]  
FSMA funding to Ohio State University.

4.    Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for Spinal Muscular Atrophy. Hastings ML, Berniac J*, Liu YH*, Abato P*, Jodelka FM*, Barthel L*, Kumar S*, Dudley C*, Larson K*, Edmonds J*, Bowser T* Draper M*, Higgins P, and Krainer. AR. Sci Transl. (2009) 1:5ra12. 
FSMA funding to Rosalin Franklin University, Cold Spring Harbor Lab, and Paratek Pharmaceuticals.

5.    Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.  Butchbach ME, Singh J*, Thornorsteinsdóttir M*, Saieva L, Slominski E, Thurmond J*, Andrésson T*, Zhang J*, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME*. Hum Mol Genet. (2009) Nov 6. [Epub ahead of print] 
FSMA funding to deCODE chemistry, Ohio State University, and University of Manitoba.

6.   Valproic acid blocks excitability in SMA type I mouse motor neurons.  Rak K, Lechner BD, Schneider C, Drexl H, Sendtner M, Jablonka S.  Neurobiol Dis. (2009) 363:477-87. 
FSMA funding to University of Wurzburg.

7.    A positive modifier of spinal muscular atrophy in the SMN2 gene.  Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT.  Am J Hum Genet. (2009) 85:408-13. 
FSMA funding to Ohio State University and University of Utah.

8.    p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein.  HuR. Farooq F, Balabanian S, Liu X, Holcik M, MacKenzie A. Hum Mol Genet. (2009) 18(21):4035-45. 
FSMA funding to University of Ottowa.

9.    SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D’Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C. Eur J Hum Genet. (2009 ) Jul 15. [Epub ahead of print] 
FSMA funding to UCSC Rome.

10.     Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. Boon KL, Xiao S, McWhorter ML, Donn T, Wolf-Saxon E, Bohnsack MT, Moens CB, Beattie CE. Hum Mol Genet. (2009) 18:3615-25. 
FSMA funding to Ohio State University. 

11.    Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?  Burghes AH, Beattie CE. Nat Rev Neurosci. (2009) 10:597-609. 
FSMA funding to Ohio State University.

12.    LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Garbes L, Riessland M, Hölker I, Heller R, Hauke J, Tränkle C, Coras R, Blümcke I, Hahnen E, Wirth B.  Hum Mol Genet. (2009) 18:3645-58.
FSMA funding to University of Cologne.

13.    Phase II open label study of valproic acid in spinal muscular atrophy. Swoboda KJ*, Scott CB*, Reyna SP*, Prior TW*, LaSalle B*, Sorenson SL*, Wood J*, Acsadi G*, Crawford TO*, Kissel JT*, Krosschell KJ*, D’Anjou G*, Bromberg MB, Schroth MK*, Chan GM*, Elsheikh B*, Simard LR*. PLoS One. (2009) 4:e5268. 
FSMA funding to the Project Cure SMA Clinical Trial Network.

14.    Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Rossoll W, Bassell GJ.
Results Probl Cell Differ. (2009) 48:289-326. 
FSMA funding to Emory University.

15.    Splice-site pairing is an intrinsically high fidelity process. Fox-Walsh KL, Hertel KJ. Proc Natl Acad Sci U S A. (2009) 106:1766-71. 
FSMA funding to University of California, Irvine. 

16.    Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. Kong L, Wang X, Choe DW, Polley M, Burnett BG, Bosch-Marcé M, Griffin JW, Rich MM, Sumner CJ. J Neurosci. (2009) 29:842-51. 
FSMA funding to Johns Hopkins University.

17.    Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Heier CR, DiDonato CJ. Hum Mol Genet. (2009)  18:1310-22. 
FSMA funding to Northwestern University.

18.    Regulation of SMN protein stability. Burnett BG, Muñoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH. Mol Cell Biol. (2009) 29:1107-15.  FSMA funding to Johns Hopkins University.