Families of Spinal Muscular Atrophy - Funded 2008 Journal Articles

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FSMA Funded Articles in 2008

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Through December 1st 2008, FSMA is proud to have contributed funding to the research highlighted in the following 17 journal articles published so far this year.

1. Kariya S, Mauricio R, Dai Y, Monani UR. The neuroprotective factor Wld(s) fails to mitigate distal axonal and neuromuscular junction (NMJ) defects in mouse models of spinal muscular atrophy. Neuroscience Letters. Published online November 2008.

2. Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E. Survival Motor Neuron Gene 2 Silencing by DNA Methylation Correlates with Spinal Muscular Atrophy Disease Severity and can be Bypassed by Histone Deacetylase Inhibition. Human Molecular Genetics. Published online October 2008.

3. Singh J, Salcius M, Liu SW, Staker BL, Mishra R, Thurmond J, Michaud G, Mattoon DR, Printen J, Christensen J, Bjornsson JM, Pollok BA, Kiledjian M, Stewart L, Jarecki J, Gurney ME. DcpS as a Therapeutic Target for Spinal Muscular Atrophy. ACS Chemical Biology. Published online October 2008.

4. Mattis VB, Butchbach ME, Lorson CL. Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: Applicability to preclinical therapy development for spinal muscular atrophy. Journal of Neuroscience Methods. Published October 2008.

5. Morris GE. The Cajal Body. Biochimica et Biophysica Acta. Published November 2008.

6. Finkel RS, Hynan LS, Glanzman AM, Owens H, Nelson L, Cone SR, Campbell SK, Iannaccone ST; AmSMART Group. The test of infant motor performance: reliability in spinal muscular atrophy type I. Pediatric Physical Therapy. Published Fall 2008.

7. Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. Journal of Medical Genetics. Published October 2008.

8. Narver HL, Kong L, Burnett BG, Choe DW, Bosch-Marcé M, Taye AA, Eckhaus MA, Sumner CJ. Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition. Annals of Neurology. Published October 2008.

9. McGovern VL, Gavrilina TO, Beattie CE, Burghes AH. Embryonic motor axon development in the severe SMA mouse. Human Molecular Genetics. Published September 2008.

10. Shafey D, MacKenzie AE, Kothary R. Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice. Journal of Neuroscience Research. Published October 2008.

11. Kariya S, Park GH, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, Landmesser LT, Monani UR. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Human Molecular Genetics. Published August 2008.

12. Thurmond J, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. Journal of Medicinal Chemistry. Published February 2008.

13. Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B.Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Human Genetics. Published March 2008.

14. Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science. Published April 2008.

15. Gavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, DiDonato CJ, Monani UR, Morris GE, Burghes AH. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Human Molecular Genetics. Published April 2008.

16. Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. American Journal of Human Genetics. Published January 2008.

17. Foust KD, Poirier A, Pacak CA, Mandel RJ, Flotte TR. Neonatal intraperitoneal or intravenous injections of recombinant adeno-associated virus type 8 transduce dorsal root ganglia and lower motor neurons. Human Gene Therapy. Published January 2008.