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Congratulations to Dr. Brian McCabe and Dr. Livio Pellizzoni for Their Recent Publications in Cell

Congratulations to Dr. Brian McCabe and Dr. Livio Pellizzoni of Columbia University’s Motor Neuron Center for their publications in Cell. The first study, led by Dr. McCabe, shows that SMN restoration in proprioceptive neurons and interneurons corrects defects in motor neurons and muscles in a fly SMA model. Surprisingly, SMN restoration in muscles or motor neurons did not improve the SMA model phenotype. In the second study, researchers led by Dr. Pellizzoni demonstrate that SMN deficiency disrupts mRNA splicing in vivo, resulting in detrimental effects on select genes that contain a rare type of intron. Through studying these genes, the researchers discovered Stasimon, a novel gene critical for motor circuit activity in fly and zebrafish models of SMA. Restoration of Stasimon in the motor circuit corrects key aspects of motor dysfunction in these models. Furthermore, SMN deficiency disrupts Stasimon expression in the neurons of the sensory-motor circuit in a mouse model of SMA. The two studies link the loss of the SMN1 gene to defects in RNA splicing of a critical neuronal gene, which leads to motor circuit dysfunction.

To view the full press release of the two articles, please visit the Motor Neuron Center website.

This research was partially supported by the SMA Foundation.