Kannan A, Bhatia K, Branzei D, Gangwani L. Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy. Nucleic Acids Res. 2018;46:8326-8346 pubmed publisher

So B, Wan L, Zhang Z, Li P, Babiash E, Duan J, et al. A U1 snRNP-specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange. Nat Struct Mol Biol. 2016;23:225-30 pubmed publisher

McGovern V, Iyer C, Arnold W, Gombash S, Zaworski P, Blatnik A, et al. SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA. Hum Mol Genet. 2015;24:5524-41 pubmed publisher

Singh R, Brewer M, Mashburn C, Lou D, Bondada V, Graham B, et al. Calpain 5 is highly expressed in the central nervous system (CNS), carries dual nuclear localization signals, and is associated with nuclear promyelocytic leukemia protein bodies. J Biol Chem. 2014;289:19383-94 pubmed publisher

Mahmoudi S, Henriksson S, Weibrecht I, Smith S, Söderberg O, Stromblad S, et al. WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. PLoS Biol. 2010;8:e1000521 pubmed publisher

Carissimi C, Saieva L, Gabanella F, Pellizzoni L. Gemin8 is required for the architecture and function of the survival motor neuron complex. J Biol Chem. 2006;281:37009-16 pubmed

Casci I, Krishnamurthy K, Kour S, Tripathy V, Ramesh N, Anderson E, et al. Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization. Nat Commun. 2019;10:5583 pubmed publisher

Rodríguez Muela N, Parkhitko A, Grass T, Gibbs R, Norabuena E, Perrimon N, et al. Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes. J Clin Invest. 2018;128:3008-3023 pubmed publisher

Jangi M, Fleet C, Cullen P, Gupta S, Mekhoubad S, Chiao E, et al. SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage. Proc Natl Acad Sci U S A. 2017;114:E2347-E2356 pubmed publisher

Dimitriadi M, Derdowski A, Kalloo G, Maginnis M, O Hern P, Bliska B, et al. Decreased function of survival motor neuron protein impairs endocytic pathways. Proc Natl Acad Sci U S A. 2016;113:E4377-86 pubmed publisher

Luchetti A, Ciafrè S, Murdocca M, Malgieri A, Masotti A, Sanchez M, et al. A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA). Int J Mol Sci. 2015;16:18312-27 pubmed publisher

Dombert B, Sivadasan R, Simon C, Jablonka S, Sendtner M. Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. PLoS ONE. 2014;9:e110846 pubmed publisher

Robbins K, Glascock J, Osman E, Miller M, Lorson C. Defining the therapeutic window in a severe animal model of spinal muscular atrophy. Hum Mol Genet. 2014;23:4559-68 pubmed publisher

Turner B, Alfazema N, Sheean R, Sleigh J, Davies K, Horne M, et al. Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice. Neurobiol Aging. 2014;35:906-15 pubmed publisher

Makarov E, Owen N, Bottrill A, Makarova O. Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs. Nucleic Acids Res. 2012;40:2639-52 pubmed publisher

Hauke J, Riessland M, Lunke S, Eyupoglu I, Blumcke I, El Osta A, et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet. 2009;18:304-17 pubmed publisher