Moving towards treatments for spinal muscular atrophy: hopes and limits

Bibliography

• Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008;371:2120–33
   PubMed Web of Science ®Google Scholar
• Hamilton G, Gillingwater TH. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med 2013;19:40–50
   PubMed Web of Science ®Google Scholar
• Wirth B, Garbes L, Riessland M. How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. Curr Opin Genet Dev 2013;23:330–8
   PubMed Web of Science ®Google Scholar
• Foust KD, Wang X, McGovern VL, et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 2010;28:271–4
   PubMed Web of Science ®Google Scholar
• Dominguez E, Marais T, Chatauret N, et al. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 2011;20:681–93
   PubMed Web of Science ®Google Scholar
• Valori CF, Ning K, Wyles M, et al. Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci Transl Med 2010;2:35ra42
   PubMed Web of Science ®Google Scholar
• Hua Y, Sahashi K, Rigo F, et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 2011;478:123–6
   PubMed Web of Science ®Google Scholar
• Naryshkin NA, Weetall M, Dakka A, et al. Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science 2014;345:688–93
   PubMed Web of Science ®Google Scholar
• Finkel RS, Day J, Chiriboga C, et al. Results of a phase 2 open-label study of ISIS-SMNRx in patients with infantile (Type 1) spinal muscular atrophy. Neuromuscul Disord 2014;24:920
   Web of Science ®Google Scholar
• Brichta L, Holker I, Haug K, et al. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol 2006;59:970–5
   PubMed Web of Science ®Google Scholar
• Garbes L, Heesen L, Holker I, et al. VPA response in SMA is suppressed by the fatty acid translocase CD36. Hum Mol Genet 2013;22:398–407
   PubMed Web of Science ®Google Scholar
• Swoboda KJ, Scott CB, Crawford TO, et al. SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS ONE 2010;5:e12140
   PubMed Web of Science ®Google Scholar
• Swoboda KJ, Scott CB, Reyna SP, et al. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS ONE 2009;4:e5268
   PubMed Web of Science ®Google Scholar
• Dessaud E, Andre C, Scherrer B, et al. A Phase II study to assess safety and efficacy of olesoxime (TRO19622) in 3-25 year old Spinal Muscular Atrophy (SMA) patients. Neurology 2014;83:E37–7
   Web of Science ®Google Scholar
• Kariya S, Obis T, Garone C, et al. Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. J Clin Invest 2014;124:785–800
   PubMed Web of Science ®Google Scholar
• Hua Y, Liu YH, Sahashi K, et al. Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models. Genes Dev 2015;29:288–97
   PubMed Web of Science ®Google Scholar
• Wishart TM, Mutsaers CA, Riessland M, et al. Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy. J Clin Invest 2014;124:1821–34
   PubMed Web of Science ®Google Scholar
• Ning K, Drepper C, Valori CF, et al. PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons. Hum Mol Genet 2010;19:3159–68
   PubMed Web of Science ®Google Scholar
• Fischer M, Pereira PM, Holtmann B, et al. P90 Ribosomal s6 kinase 2 negatively regulates axon growth in motoneurons. Mol Cell Neurosci 2009;42:134–41
   PubMed Web of Science ®Google Scholar
• Bowerman M, Beauvais A, Anderson CL, et al. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 2010;19:1468–78
   PubMed Web of Science ®Google Scholar
• Branchu J, Biondi O, Chali F, et al. Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells. J Neurosci 2013;33:4280–94
   PubMed Web of Science ®Google Scholar
• Kye MJ, Niederst ED, Wertz MH, et al. SMN regulates axonal local translation via miR-183/mTOR pathway. Hum Mol Genet 2014;23:6318–31
   PubMed Web of Science ®Google Scholar
• Ackermann B, Krober S, Torres-Benito L, et al. Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum Mol Genet 2013;22:1328–47
   PubMed Web of Science ®Google Scholar
• Oprea GE, Krober S, McWhorter ML, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 2008;320:524–7
   PubMed Web of Science ®Google Scholar