Livio Pellizzoni

Incomplete cerebellar circuit restoration limits functional recovery following SMN therapy in severe spinal muscular atrophy

The paper identifies cerebellar pathology as a conserved yet distinct feature in severe SMA, showing divergent therapeutic outcomes with SMN-restoring therapies.

Intranucleolar Invasion of Cajal Body Remnants Suppresses Ribosomal Biogenesis in cis and Telomerase Functions in trans

The paper shows that SMN inactivation causes CB components to invade the nucleolus, suppressing rRNA production and telomerase function through altered condensate interactions.

A p53-ΔNp73 signaling axis drives selective motor neuron degeneration in spinal muscular atrophy

This study identifies a p53-ΔNp73 signaling axis that drives motor neuron degeneration in SMA, revealing a context-dependent switch in p53 family signaling that promotes neurodegeneration.

Synaptic imbalance and increased inhibition impair motor function in SMA

This study shows that unbalanced excitation-inhibition neurotransmission in SMA mice impairs motor function, and reducing inhibition improves neuronal function and behavior.

A chemical screen identifies p38 MAPK inhibition as a candidate neuroprotective strategy for combinatorial SMA therapy

This study identifies p38 MAPK inhibition as a neuroprotective strategy that synergizes with SMN upregulation to improve motor function and survival in SMA mice.

Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.

The paper investigates amino acid metabolism in spinal muscular atrophy, finding dysregulated D- and L-amino acid levels linked to glutamatergic dysfunction and showing therapeutic potential with D-serine.

SMN controls neuromuscular junction integrity through U7 snRNP

This study identifies a role for SMN in maintaining neuromuscular junction integrity through U7 snRNP function in SMA mice.

Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn 2B/- mouse model of SMA

This study investigates SMA pathology in Smn2B/- mice, finding that neuromuscular denervation and deafferentation, not motor neuron death, are consistent features of the disease.

TGS1 controls snRNA 3' end processing, prevents neurodegeneration and ameliorates SMN-dependent neurological phenotypes in vivo

This study shows TGS1 is essential for snRNA 3' end processing and its loss causes neurodegeneration, which can be mitigated by human TGS1 expression in model organisms.

A systems view of spliceosomal assembly and branchpoints with iCLIP

The paper uses spliceosome iCLIP to map human spliceosome engagement with snRNAs and pre-mRNAs, identifying over 50,000 branchpoints and their associated splicing factor binding patterns.

The RNA demethylase FTO targets m6Am in snRNA to establish distinct methyl isoforms that influence splicing

This study shows FTO demethylates m2-snRNA to regulate splicing by controlling reversible methylation of snRNAs.

Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy

This study shows that Stasimon overexpression in SMA mice improves motor function by preventing synaptic loss and motor neuron death through mechanisms involving p53 regulation.