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Deconstructing SMA: from RNA Processing to Motor Neuron Disease

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Research in the Pellizzoni laboratory investigates the mechanisms by which RNA binding proteins (RBPs) and molecular chaperones that mediate their assembly into RNAprotein complexes (RNPs) regulate gene expression. The laboratory also focuses on the question of how general perturbations of RNA metabolism cause synaptic dysfunction and neuronal death in neurodegenerative diseases such as spinal muscular atrophy (SMA). In these studies, we employ cellular and animal models as well as a wide range of genomic, biochemical, molecular, and imaging approaches. High-throughput screens are also used to discover chemical and genetic modifiers of disease pathways. On one hand, these efforts are designed to advance our knowledge of how RNA regulation contributes to neural circuit function. On the other, they aim to deconstruct disease mechanisms and identify potential therapeutic targets.


Meaghan Van Alstyne, Christian M Simon, S Pablo Sardi, Lamya S Shihabuddin, George Z Mentis, Livio Pellizzoni
Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy
Genes Dev . 2018 Aug 1;32(15-16):1045-1059. doi: 10.1101/gad.316059.118. Epub 2018 Jul 16.
Meaghan Van Alstyne, Ivan Tattoli, Nicolas Delestrée, Yocelyn Recinos, Eileen Workman, Lamya S Shihabuddin, Chaolin Zhang, George Z Mentis, Livio Pellizzoni
Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit
Nat Neurosci . 2021 Jul;24(7):930-940. doi: 10.1038/s41593-021-00827-3. Epub 2021 Apr 1.
Sarah Tisdale, Meaghan Van Alstyne, Christian M Simon, George Z Mentis, Livio Pellizzoni
SMN controls neuromuscular junction integrity through U7 snRNP
Cell Rep . 2022 Sep 20;40(12):111393. doi: 10.1016/j.celrep.2022.111393.


Tuesday, June 6, 2023 - 12:30pm


Conference Room: 
Billings Building – Rosedale

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Darlene White