Spinal muscular atrophy—recent therapeutic advances for an old challenge

Identification and characterization of a spinal muscular atrophy-determining gene

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

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Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

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Induced pluripotent stem cells from a spinal muscular atrophy patient

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Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

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Consensus Statement for Standard of Care in Spinal Muscular Atrophy

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

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Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

Hua, Y., Sahashi, K., Rigo, F., Hung, G., Horev, G., Bennett, C. F., & Krainer, A. R. (2011) · Nature · doi:10.1038/nature10485 · Cited by 744 · see citing works

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

Monani, U. R. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.333 · Cited by 732 · see citing works

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Burghes, A. H. M., & Beattie, C. E. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2670 · Cited by 723 · see citing works

International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

Munsat, T. L., & Davies, K. E. (1992) · Neuromuscular Disorders · doi:10.1016/s0960-8966(06)80015-5 · Cited by 667 · see citing works

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse modelPreprint

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Sugarman, E. A., Nagan, N., Zhu, H., Akmaev, V. R., Zhou, Z., Rohlfs, E. M., Flynn, K., Hendrickson, B. C., Scholl, T., Sirko-Osadsa, D. A., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.134 · Cited by 661 · see citing works

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

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SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

Zhang, Z., Lotti, F., Dittmar, K. A., Younis, I., Wan, L., Kasim, M., & Dreyfuss, G. (2008) · Cell · doi:10.1016/j.cell.2008.03.031 · Cited by 610 · see citing works

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Le, T. T., Pham, L. T., Butchbach, M. E. R., Zhang, H. L., Monani, U. R., Coovert, D. D., Gavrilina, T. O., Xing, L., Bassell, G. J., & Burghes, A. H. M. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi078 · Cited by 600 · see citing works

Spinal muscular atrophy

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A Novel Function for SMN, the Spinal Muscular Atrophy Disease Gene Product, in Pre-mRNA Splicing

Pellizzoni, L., Kataoka, N., Charroux, B., & Dreyfuss, G. (1998) · Cell · doi:10.1016/s0092-8674(00)81632-3 · Cited by 558 · see citing works

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

Passini, M. A., Bu, J., Richards, A. M., Kinnecom, C., Sardi, S. P., Stanek, L. M., Hua, Y., Rigo, F., Matson, J. E., Hung, G., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001777 · Cited by 547 · see citing works

Essential Role for the SMN Complex in the Specificity of snRNP Assembly

Pellizzoni, L., Yong, J., & Dreyfuss, G. (2002) · Science · doi:10.1126/science.1074962 · Cited by 544 · see citing works

Observational study of spinal muscular atrophy type I and implications for clinical trials

Finkel, R. S., McDermott, M., Kaufmann, P., Darras, B. T., Chung, W. K., Sproule, D. M., Kang, P. B., Foley, A. R., Yang, M. L., Martens, W. B., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000741 · Cited by 530 · see citing works

<i>SMN2</i> splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

Naryshkin, N. A., Weetall, M., Dakka, A., Narasimhan, J., Zhao, X., Feng, Z., Ling, K. K. Y., Karp, G. M., Qi, H., Woll, M. G., et al. (2014) · Science · doi:10.1126/science.1250127 · Cited by 524 · see citing works

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

Oprea, G. E., Kröber, S., McWhorter, M. L., Rossoll, W., Müller, S., Krawczak, M., Bassell, G. J., Beattie, C. E., & Wirth, B. (2008) · Science · doi:10.1126/science.1155085 · Cited by 496 · see citing works

Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function

Swoboda, K. J., Prior, T. W., Scott, C., McNaught, T. J., Wride, M. C., Reyna, S. P., & Bromberg, M. B. (2005) · Annals of Neurology · doi:10.1002/ana.20473 · Cited by 479 · see citing works

The AAV Vector Toolkit: Poised at the Clinical Crossroads

Asokan, A., Schaffer, D. V., & Samulski, R. J. (2012) · Molecular Therapy · doi:10.1038/mt.2011.287 · Cited by 463 · see citing works

Splicing of a Critical Exon of Human Survival Motor Neuron Is Regulated by a Unique Silencer Element Located in the Last Intron

Singh, N. K., Singh, N. N., Androphy, E. J., & Singh, R. N. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.26.4.1333-1346.2006 · Cited by 452 · see citing works

Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Arnold, W. D., Kassar, D., & Kissel, J. T. (2014) · Muscle & Nerve · doi:10.1002/mus.24497 · Cited by 436 · see citing works

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding

McWhorter, M. L., Monani, U. R., Burghes, A. H. M., & Beattie, C. E. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200303168 · Cited by 423 · see citing works

Childhood spinal muscular atrophy: controversies and challenges.

Mercuri, E., Bertini, E., & Iannaccone, S. (2012) · Lancet Neurology · doi:10.1016/s1474-4422(12)70061-3 · Cited by 388 · see citing works

Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

Gray, S. J., Nagabhushan Kalburgi, S., McCown, T. J., & Jude Samulski, R. (2013) · Gene Therapy · doi:10.1038/gt.2012.101 · Cited by 377 · see citing works

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

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Motor neuron disease.

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A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Prior, T. W., Krainer, A. R., Hua, Y., Swoboda, K. J., Snyder, P. C., Bridgeman, S. J., Burghes, A. H. M., & Kissel, J. T. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.08.002 · Cited by 321 · see citing works

Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs

Gabanella, F., Butchbach, M. E. R., Saieva, L., Carissimi, C., Burghes, A. H. M., & Pellizzoni, L. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000921 · Cited by 315 · see citing works

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

Dominguez, E., Marais, T., Chatauret, N., Benkhelifa-Ziyyat, S., Duque, S., Ravassard, P., Carcenac, R., Astord, S., de Moura, A. P., Voit, T., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddq514 · Cited by 298 · see citing works

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

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Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

Rossoll, W. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.1.93 · Cited by 291 · see citing works

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

Meyer, K., Ferraiuolo, L., Schmelzer, L., Braun, L., McGovern, V., Likhite, S., Michels, O., Govoni, A., Fitzgerald, J., Morales, P., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2014.210 · Cited by 286 · see citing works

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

Valori, C. F., Ning, K., Wyles, M., Mead, R. J., Grierson, A. J., Shaw, P. J., & Azzouz, M. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3000830 · Cited by 285 · see citing works

Pharmacology of a Central Nervous System Delivered 2′-O-Methoxyethyl–Modified Survival of Motor Neuron Splicing Oligonucleotide in Mice and Nonhuman Primates

Rigo, F., Chun, S. J., Norris, D. A., Hung, G., Lee, S., Matson, J., Fey, R. A., Gaus, H., Hua, Y., Grundy, J. S., et al. (2014) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.113.212407 · Cited by 283 · see citing works

Regulation of SMN Protein Stability

Burnett, B. G., Muñoz, E., Tandon, A. A., Kwon, D. Y., Sumner, C. J., & Fischbeck, K. H. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01262-08 · Cited by 281 · see citing works

Newborn and carrier screening for spinal muscular atrophy

Prior, T. W., Snyder, P. J., Rink, B. D., Pearl, D. K., Pyatt, R. E., Mihal, D. C., Conlan, T. K., Schmalz, B., Montgomery, L. M., Ziegler, K. L. A., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33474 · Cited by 269 · see citing works

International SMA consortium meeting

Munsat, T. L. (1992) · Medical Entomology and Zoology · Cited by 243 · see citing works

An Assembly Chaperone Collaborates with the SMN Complex to Generate Spliceosomal SnRNPs

Chari, A., Golas, M. M., Klingenhäger, M., Neuenkirchen, N., Sander, B. O., Englbrecht, C., Sickmann, A., Stark, H., & Fischer, U. (2008) · Cell · doi:10.1016/j.cell.2008.09.020 · Cited by 232 · see citing works

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

Bevan, A. K., Hutchinson, K. R., Foust, K. D., Braun, L., McGovern, V. L., Schmelzer, L., Ward, J. G., Petruska, J. C., Lucchesi, P. A., Burghes, A. H. M., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq300 · Cited by 211 · see citing works

Cardiac defects contribute to the pathology of spinal muscular atrophy models

Shababi, M., Habibi, J., Yang, H. T., Vale, S. M., Sewell, W. A., & Lorson, C. L. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq329 · Cited by 208 · see citing works

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

Martinez, T. L., Kong, L., Wang, X., Osborne, M. A., Crowder, M. E., Meerbeke, J. P. V., Xu, X., Davis, C., Wooley, J., Goldhamer, D. J., et al. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.0204-12.2012 · Cited by 206 · see citing works

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

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Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

Corti, S. P., Nizzardo, M., Simone, C., Falcone, M., Nardini, M., Ronchi, D., Donadoni, C., Salani, S., Riboldi, G. M., Magri, F., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004108 · Cited by 205 · see citing works

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

Rudnik‐Schöneborn, S., Heller, R., Berg, C., Betzler, C., Grimm, T., Eggermann, T., Eggermann, K., Wirth, R., Wirth, B., & Zerres, K. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.057950 · Cited by 204 · see citing works

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severityPreprint

Cho, S., & Dreyfuss, G. (2010) · Genes & Development · doi:10.1101/gad.1884910 · Cited by 200 · see citing works

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

Imlach, W. L., Beck, E., Choi, B. J., Lotti, F., Pellizzoni, L., & McCabe, B. D. (2012) · Cell · doi:10.1016/j.cell.2012.09.011 · Cited by 200 · see citing works

The SMN Complex: An Assembly Machine for RNPsPreprint

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Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

Bowerman, M., Beauvais, A., Anderson, C. L., & Kothary, R. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq021 · Cited by 177 · see citing works

Observational Study of Spinal Muscular Atrophy Type 2 and 3

Kaufmann, P. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.373 · Cited by 173 · see citing works

Chaperoning ribonucleoprotein biogenesis in health and disease

Pellizzoni, L. (2007) · EMBO Reports · doi:10.1038/sj.embor.7400941 · Cited by 172 · see citing works

Molecular Functions of the SMN Complex

Kolb, S. J., Battle, D. J., & Dreyfuss, G. (2007) · Journal of Child Neurology · doi:10.1177/0883073807305666 · Cited by 171 · see citing works

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2

Prior, T. W., Swoboda, K. J., Scott, H. D., & Hejmanowski, A. Q. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30251 · Cited by 164 · see citing works

SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease

Li, D. K., Tisdale, S., Lotti, F., & Pellizzoni, L. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.04.026 · Cited by 160 · see citing works

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

Kariya, S., Obis, T., Garone, C., Akay, T., Sera, F., Iwata, S., Homma, S., & Monani, U. R. (2014) · Journal of Clinical Investigation · doi:10.1172/jci72017 · Cited by 150 · see citing works

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy

Jarecki, J., Chen, X., Bernardino, A., Coovert, D. D., Whitney, M., Burghes, A. H. M., Stack, J. H., & Pollok, B. A. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi205 · Cited by 150 · see citing works

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

Sareen, D., Ebert, A. D., Heins, B. M., McGivern, J. V., Ornelas, L., & Svendsen, C. N. (2012) · PLoS ONE · doi:10.1371/journal.pone.0039113 · Cited by 142 · see citing works

A natural history study of late onset spinal muscular atrophy types 3b and 4

Piepers, S., van den Berg, L. H., Brugman, F., Scheffer, H., Ruiterkamp‐Versteeg, M., van Engelen, B. G. M., Faber, C. G., de Visser, M., van der Pol, W. L., & Wokke, J. H. J. (2008) · Journal of Neurology · doi:10.1007/s00415-008-0929-0 · Cited by 140 · see citing works

Oligonucleotide-Mediated Survival of Motor Neuron Protein Expression in CNS Improves Phenotype in a Mouse Model of Spinal Muscular Atrophy

Williams, J. H., Schray, R. C., Patterson, C. A., Ayitey, S., Tallent, M. K., & Lutz, G. J. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.0950-09.2009 · Cited by 139 · see citing works

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects

Hubers, L., Valderrama-Carvajal, H., Laframboise, J., Timbers, J., Sanchez, G., & Côté, J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddq500 · Cited by 138 · see citing works

A large animal model of spinal muscular atrophy and correction of phenotype

Duqué, S. I., Arnold, W. D., Odermatt, P., Li, X., Porensky, P. N., Schmelzer, L., Meyer, K., Kolb, S. J., Schümperli, D., Kaspar, B. K., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24332 · Cited by 136 · see citing works

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

Bowerman, M., Murray, L. M., Boyer, J. G., Anderson, C. L., & Kothary, R. (2012) · BMC Medicine · doi:10.1186/1741-7015-10-24 · Cited by 125 · see citing works

A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice

Zhou, H., Janghra, N., Mitrpant, C., Dickinson, R. L., Anthony, K., Flynn, L. L., Eperon, I. C., Wilton, S. D., Morgan, J. E., & Francesco Muntoni, A. (2013) · Human Gene Therapy · doi:10.1089/hum.2012.211 · Cited by 121 · see citing works

Spinal muscular atrophy: the RNP connection

Eggert, C., Chari, A., Laggerbauer, B., & Fischer, U. (2006) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2006.01.005 · Cited by 113 · see citing works

Refined Characterization of the Expression and Stability of the SMN Gene Products

Vitte, J., Fassier, C., Tiziano, F. D., Dalard, C., Soave, S., Roblot, N., Brahe, C., Saugier-Véber, P., Bonnefont, J., & Melki, J. (2007) · American Journal Of Pathology · doi:10.2353/ajpath.2007.070399 · Cited by 112 · see citing works

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

Boulisfane, N., Choleza, M., Rage, F., Neel, H., Soret, J., & Bordonné, R. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq508 · Cited by 107 · see citing works

The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation

Gabanella, F., Carissimi, C., Usiello, A., & Pellizzoni, L. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi390 · Cited by 105 · see citing works

A placebo-controlled trial of gabapentin in spinal muscular atrophy

Miller, R. G., Moore, D. H., Dronsky, V., Bradley, W. G., Barohn, R. J., Bryan, W. W., Prior, T. W., Gelinas, D. F., Iannaccone, S., Kissel, J. T., et al. (2001) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(01)00632-3 · Cited by 101 · see citing works

Usp18 deficient mammary epithelial cells create an antitumour environment driven by hypersensitivity to IFN‐λ and elevated secretion of Cxcl10

Burkart, C., Arimoto, K., Tang, T., Cong, X., Xiao, N., Liu, Y., Kotenko, S. V., Ellies, L. G., & Zhang, D. (2013) · EMBO Molecular Medicine · doi:10.1002/emmm.201201864 · Cited by 100 · see citing works

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Rossor, A. M., Oates, E. C., Salter, H. K., Liu, Y., Murphy, S. M., Schüle, R., Gonzalez, M., Scoto, M., Phadke, R., Sewry, C. A., et al. (2014) · Brain · doi:10.1093/brain/awu356 · Cited by 99 · see citing works

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

Elsheikh, B., Prior, T. W., Zhang, X., Miller, R. G., Kolb, S. J., Moore, D., Bradley, W. G., Barohn, R. J., Bryan, W. W., Gelinas, D. F., et al. (2009) · Muscle & Nerve · doi:10.1002/mus.21350 · Cited by 98 · see citing works

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

Wirth, B., Garbes, L., & Rießland, M. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.03.003 · Cited by 96 · see citing works

Technical standards and guidelines for spinal muscular atrophy testing

Prior, T. W., Nagan, N., Sugarman, E. A., Batish, S. V. D., & Braastad, C. D. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e318220d523 · Cited by 93 · see citing works

Synthesis and Biological Evaluation of Novel 2,4-Diaminoquinazoline Derivatives as SMN2 Promoter Activators for the Potential Treatment of Spinal Muscular Atrophy

Thurmond, J., Butchbach, M. E. R., Palomo, M., Pease, B., Rao, M., Bedell, L. J., Keyvan, M., Pai, G., Mishra, R. K., Haraldsson, M. H., et al. (2008) · Journal of Medicinal Chemistry · doi:10.1021/jm061475p · Cited by 93 · see citing works

Modern Management of Spinal Muscular Atrophy

Iannaccone, S. T. (2007) · Journal of Child Neurology · doi:10.1177/0883073807305670 · Cited by 93 · see citing works

A screen for regulators of survival of motor neuron protein levels

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Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis

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Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example

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