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In 2007 FSMA is proud to have contributed funding to the research highlighted in the 25 articles below.
1. Tadesse H, Deschênes-Furry J, Boisvenue S, Côté J. KH-Type Splicing Regulatory Protein Interacts with Survival Motor Neuron Protein and is Misregulated in Spinal Muscular Atrophy. Human Molecular Genetics. Online publication November 2007,
2. McWhorter ML, Boon KL, Horan ES, Burghes AH, Beattie CE. The SMN binding protein gemin2 is not involved in motor axon outgrowth. Developmental Neurobiology Online publication November 2007
3. Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. Neurology. November 2007
4. Zou T, Ilangovan R, Yu F, Xu Z, Zhou J. SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochemical and Biophysical Research Communications December 2007.
5. Novoyatleva T, Heinrich B, Tang Y, Benderska N, Butchbach ME, Lorson CL, Lorson MA, Ben-Dov C, Fehlbaum P, Bracco L, Burghes AH, Bollen M, Stamm S. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Human Moleculat Genetics October 2007.
6. Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L. Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs. PLoS ONE. September 2007.
7. Bowerman M, Shafey D, Kothary R. Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity. Journal of Molecular Neuroscience. June 2007.
8. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. Journal of Child Neurology. August 2007.
9. Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. Journal of Child Neurology. August 2007.
10. Heier CR, Gogliotti RG, DiDonato CJ. SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy? Journal of Child Neurology. August 2007.
11. Schmid A, DiDonato CJ. Animal models of spinal muscular atrophy. Journal of Child Neurology. August 2007. Review.
12. Beattie CE, Carrel TL, McWhorter ML. Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy. Journal of Child Neurology. August 2007. Review.
13. Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D'Anjou G, Krosschell KJ, Reyna SP, Schroth MK, Scott CB, Simard LR. Perspectives on clinical trials in spinal muscular atrophy. Journal of Child Neurology. August 2007. Review.
14. Prior TW. Spinal muscular atrophy diagnostics. Journal of Child Neurology. August 2007. Review.
15. Kostova FV, Williams VC, Heemskerk J, Iannaccone S, Didonato C, Swoboda K, Maria BL. Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions. Journal of Child Neurology. August 2007.
16. Hao le T, Fuller HR, Lam le T, Le TT, Burghes AH, Morris GE. Absence of gemin5 from SMN complexes in nuclear Cajal bodies. BMC Cell Biology. July 2007.
17. Butchbach ME, Edwards JD, Burghes AH. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiology of Disease. August 2007.
18. Singh RN. Unfolding the mystery of alternative splicing through a unique method of in vivo selection. Frontiers in Bioscience. May 2007.
19. Zhang H, Xing L, Singer RH, Bassell GJ. QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons. Journal of Neuroscience Research. September 2007.
20. Rajendra TK, Gonsalvez GB, Walker MP, Shpargel KB, Salz HK, Matera AG. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. Journal of Cell Biology. March 2007.
21. Kashima T, Rao N, Manley JL. An intronic element contributes to splicing repression in spinal muscular atrophy. Proceedings of the National Academy Sciences February 2007.
22. Simard LR, Belanger MC, Morissette S, Wride M, Prior TW, Swoboda KJ. Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology. February 2007.
23. Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martinez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genetics Medicine. January 2007.
24. Ringh RN. Evolving concepts on human SMN pre-mRNA splicing. RNA Biology. March 2007.
25. Mishra AK, Gangwani L, Davis RJ, Lambright DG. Structural insights into the interaction of the evolutionarily conserved ZPR1 domain tandem with eukaryotic EF1A, receptors, and SMN complexes. Proceedings of the Natational Academy of Sciences. August 2007.
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