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 receive 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 2017, Cure SMA-funded research led to the publishing of 21 journal articles, by researchers from 46 institutions. Journal publishing is competitive, and only the best and most intriguing results are published. Congratulations to all the authors on their accomplishment. Thank you for helping us progress SMA research forward.

2017 Cure SMA-Funded Journal Articles 

1. Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy. O’Meara RW, Cummings SE, De Repentigny Y, McFall E, Michalski JP, Deguise MO, Gibeault S, Kothary R. Hum Mol Genet. 2017 Jan 9. pii: ddw385. doi: 10.1093/hmg/ddw385. [Epub ahead of print]

2. SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of Spinal Muscular Atrophy. Khairallah MT, Astroski J, Custer SK, Androphy EJ, Franklin CL, Lorson CL. Hum Mol Genet. 2017 Jan 5. pii: ddx008. doi: 10.1093/hmg/ddx008. [Epub ahead of print]

3. Spinal Muscular Atrophy: More than a Disease of Motor Neurons? Nash LA, Burns JK, Chardon JW, Kothary R, Parks RJ. Curr Mol Med. 2016 Nov 28. [Epub ahead of print]

4. Pregnancy and delivery in women with spinal muscular atrophy. Elsheikh BH, Zhang X, Swoboda KJ, Chelnick S, Reyna SP, Kolb SJ, Kissel JT. Int J Neurosci. 2017 Jan 19:1-18. doi: 10.1080/00207454.2017.1281273. [Epub ahead of print] PMID: 28102719

5. Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice. Deguise MO, De Repentigny Y, McFall E, Auclair N, Sad S, Kothary R. Hum Mol Genet. 2017 Jan 19. pii: ddw434. doi: 10.1093/hmg/ddw434. [Epub ahead of print]

6. A qualitative study of perceptions of meaningful change in spinal muscular atrophy. McGraw S, Qian Y, Henne J, Jarecki J, Hobby K, Yeh WS. BMC Neurol. 2017 Apr 4;17(1):68. doi: 10.1186/s12883-017-0853-y.

7. 218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016. Finkel RS, Sejersen T, Mercuri E; ENMC SMA Workshop Study Group. Neuromuscul Disord. 2017 Mar 2. pii: S0960-8966(17)30138-4.

8. Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy. Fletcher EV, Simon CM, Pagiazitis JG, Chalif JI, Vukojicic A, Drobac E, Wang X, Mentis GZ. Nat Neurosci. 2017 May 15. doi: 10.1038/nn.4561. [Epub ahead of print] PMID: 28504671 Similar articles Select item 285046582.

9. Cure SMA and our patient community celebrate the first approved drug for SMA. Glascock J, Lenz M, Hobby K, Jarecki J. Gene Ther. 2017 May 15. doi: 10.1038/gt.2017.39. [Epub ahead of print] Review. PMID: 28504658 Similar articles

10. How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. Singh NN, Howell MD, Androphy EJ, Singh RN. Gene Ther. 2017 May 9. doi: 10.1038/gt.2017.34. [Epub ahead of print] Review.

11. The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells. Gentillon C, Connell AJ, Kirk RW, Butchbach MER. PLoS One. 2017 Jun 29;12(6):e0180657. doi: 10.1371/journal.pone.0180657. eCollection 2017.

12. New insights into SMA pathogenesis: immune dysfunction and neuroinflammation. Deguise MO, Kothary R. Ann Clin Transl Neurol. 2017 May 18;4(7):522-530. doi: 10.1002/acn3.423. eCollection 2017 Jul.

13. The Experience of Families With Children With Spinal Muscular Atrophy Type I Across Health Care Systems. Murrell DV, Lotze TE, Farber HJ, Crawford CA, Wiemann CM. J Child Neurol. 2017 Jan 1:883073817716853. doi: 10.1177/0883073817716853. [Epub ahead of print]

14. An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA). Boroughs DS. Children (Basel). 2017 Apr 29;4(5). pii: E33. doi: 10.3390/children4050033.

15. Cyclic tetrapeptide HDAC inhibitors as potential therapeutics for spinal muscular atrophy: Screening with iPSC-derived neuronal cells. Lai JI, Leman LJ, Ku S, Vickers CJ, Olsen CA, Montero A, Ghadiri MR, Gottesfeld JM. Bioorg Med Chem Lett. 2017 Aug 1;27(15):3289-3293. doi: 10.1016/j.bmcl.2017.06.027. Epub 2017 Jun 10.

16. Clinical Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy Type I. Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Thomas OC, Schroth MK, Acsadi G, Kishnani PS, von Kleist-Retzow JC, Hero B, D’Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, LaSalle B, Sakonju A, Wirth B, Swoboda KJ; ProjectCure SMA Investigator’s Network. Muscle Nerve. 2017 Aug 18. doi: 10.1002/mus.25776. [Epub ahead of print]

17. In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels. Cherry JJ, DiDonato CJ, Androphy EJ, Calo A, Potter K, Custer SK, Du S, Foley TL, Gopalsamy A, Reedich EJ, Gordo SM, Gordon W, Hosea N, Jones LH, Krizay DK, LaRosa G, Li H, Mathur S, Menard CA, Patel P, Ramos-Zayas R, Rietz A, Rong H, Zhang B, Tones MA. PLoS One. 2017 Sep 25;12(9):e0185079.

18. HuD and the Survival Motor Neuron protein interact in motoneurons and are essential for motoneuron development, function and mRNA regulation. Hao LT, Duy PQ, An M, Talbot J, Iyer CC, Wolman M, Beattie CE. J Neurosci. 2017 Oct 23. pii: 1528-17. doi: 10.1523/JNEUROSCI.1528-17.2017.

19. Optimization of a series of heterocycles as survival motor neuron gene transcription enhancers. Choi S, Calder AN, Miller EH, Anderson KP, Fiejtek DK, Rietz A, Li H, Cherry JJ, Quist KM, Xing X, Glicksman MA, Cuny GD, Lorson CL, Androphy EA, Hodgetts KJ. Bioorg Med Chem Lett. 2017 Oct 26. pii: S0960-894X(17)31066-1. doi: 10.1016/j.bmcl.2017.10.066.

20. Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers. Sivaramakrishnan M, McCarthy KD, Campagne S, Huber S, Meier S, Augustin A, Heckel T, Meistermann H, Hug MN, Birrer P, Moursy A, Khawaja S, Schmucki R, Berntenis N, Giroud N, Golling S, Tzouros M, Banfai B, Duran-Pacheco G, Lamerz J, Hsiu Liu Y, Luebbers T, Ratni H, Ebeling M, Cléry A, Paushkin S, Krainer AR, Allain FH, Metzger F. Nat Commun. 2017 Nov 14;8(1):1476.

21. Natural History of Infantile-Onset Spinal Muscular Atrophy. 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, 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, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network; NN101 SMA Biomarker Investigators. Ann Neurol. 2017 Nov 17. doi: 10.1002/ana.25101.