Cure SMA Funding Results in 16 New Research Publications

An important goal of our research funding strategy is to share scientific findings with the broader scientific community. To help accomplish this goal, scientists who recieve Cure SMA funding often publish their findings in peer-reviewed journals. Published articles allow the experiments and results to be reviewed and vetted by other scientists, who may then use these as the basis for further experiments – multiplying the impact of our funding. 

In 2016, Cure SMA-funded research led to the publishing of 16 journal articles, by researchers from 15 different institutions. Journal publishing is competitive, and only the best and most intriguing results are published. Congratulations to all the authors on thier accomplishment. Thank you for helping us progress SMA research forward. 

2016 Cure SMA-Funded Journal Articles 

1. Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons. Fallini C, Donlin-Asp PG, Rouanet JP, Bassell GJ, Rossoll W. J Neurosci. 2016 Mar 30;36(13):3811-20. doi: 10.1523/JNEUROSCI.2396-15.2016.

2. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.

3. Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. Butchbach ME, Lumpkin CJ, Harris AW, Saieva L, Edwards JD, Workman E, Simard LR, Pellizzoni L, Burghes AH. Exp Neurol. 2016 May;279:13-26. doi: 10.1016/j.expneurol.2016.02.009. Epub 2016 Feb 15.

4. Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy. Mehta NM, Newman H, Tarrant S, Graham RJ. Pediatr Neurol. 2016 Apr;57:80-3. doi: 10.1016/j.pediatrneurol.2015.12.015. Epub 2015 Dec 24. PMID: 26803333

5. Developing therapies for spinal muscular atrophy. Wertz MH, Sahin M. Ann N Y Acad Sci. 2016 Feb;1366(1):5-19. doi: 10.1111/nyas.12813. Epub 2015 Jul 14.

6. Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. Wertz MH, Winden K, Neveu P, Ng SY, Ercan E, Sahin M. Hum Mol Genet. 2016 Mar 22. pii: ddw084. [Epub ahead of print]

7. Defects in Motoneuron-Astrocyte Interactions in Spinal Muscular Atrophy. Zhou C, Feng Z, Ko CP. J Neurosci. 2016 Feb 24;36(8):2543-53. doi: 10.1523/JNEUROSCI.3534-15.2016.

8. Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity. Han KJ, Foster D, Harhaj EW, Dzieciatkowska M, Hansen K, Liu CW. Hum Mol Genet. 2016 Apr 1;25(7):1392-405. doi: 10.1093/hmg/ddw021. Epub 2016 Jan 28.

9. Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy. Osman EY, Washington CW 3rd, Kaifer KA, Mazzasette C, Patitucci TN, Florea KM, Simon ME, Ko CP, Ebert AD, Lorson CL. Mol Ther. 2016 Aug 9. doi: 10.1038/mt.2016.145. [Epub ahead of print] PMID: 27401142

10. Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. Edwards JD, Butchbach ME. J Neuromuscul Dis. 2016 Nov 29;3(4):511-515.

11. What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients. Hunter M, Heatwole C, Luebbe E, Johnson NE. J Neuromuscul Dis. 2016 Aug 30;3(3):425-429.

12. Motor neuron mitochondrial dysfunction in spinal muscular atrophy. Miller N, Shi H, Zelikovich AS, Ma YC. Hum Mol Genet. 2016 Aug 3.

13. Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells. Custer SK, Gilson TD, Li H, Todd AG, Astroski JW, Lin H, Liu Y, Androphy EJ. PLoS One. 2016 Oct 13;11

14. Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy. Eshraghi M, McFall E, Gibeault S, Kothary R. Hum Mol Genet. 2016 Aug 18

15. Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy. Burns JK, Kothary R, Parks RJ. Neuromuscul Disord. 2016 Sep;26(9):551-9.

16. Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy. Deguise MO, Boyer JG, McFall ER, Yazdani A, De Repentigny Y, Kothary R. Sci Rep. 2016 Jun 28;6:28846. doi: 10.1038/srep28846.