Sarah Lépine

The paper uses imaging to study the spatial distribution of betaII-spectrin in human motor neuron axons, revealing a gap-and-patch pattern in the actin/spectrin membrane skeleton.

The paper identifies MLN4924 as a compound that improves cell viability in TDP-43 mutant motor neurons by targeting NEDD8-activating enzyme.

This study uses 3D iPSC-derived motor neuron spheroids with SOD1 mutations to show ALS-related phenotypes and genetic variability effects.

This study shows that homozygous ALS-linked TARDBP mutations cause synaptic abnormalities and reduced activity in human iPSC-derived motor neurons without affecting TDP-43 localization or aggregation.

This study identifies early nuclear phenotypes in SOD1-mutated astrocytes derived from ALS patients that precede reactive transformation and may affect astrocyte-MN communication.

This study compares FMR1 knock-out and Fragile X patient iPSC-derived neuronal models, finding shared transcriptional and functional impairments in neuronal activity and differentiation.