Stefano Stifani

Microglia from Friedreich Ataxia patients are intrinsically primed for neuroinflammation

This study shows that microglia from Friedreich Ataxia patients have an intrinsic pro-inflammatory phenotype due to FXN deficiency, identifying potential therapeutic targets.

The microtubule-binding protein EML3 is required for mammalian embryonic growth and cerebral cortical development; Eml3 null mice are a model of cobblestone brain malformation

This study shows that EML3 is essential for embryonic growth and cortical development, with its absence causing cobblestone brain malformation due to disrupted pial basement membrane structure.

Dysregulated expression of inflammasome and extracellular matrix genes in C9orf72-ALS/FTD microglia

This study identifies dysregulated ECM and inflammasome genes in C9orf72-HRE microglia, linking them to non-cell autonomous neurodegeneration in ALS/FTD.

Generation of human iPSC-derived phrenic-like motor neurons to model respiratory motor neuron degeneration in ALS

This paper describes a method to generate human phrenic-like motor neurons from iPSCs to model ALS-related respiratory neuron degeneration.

Early nuclear phenotypes and reactive transformation in human iPSC-derived astrocytes from ALS patients with SOD1 mutations

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

Spinal cord extracts from sporadic ALS induce and propagate TDP-43 pathology in cerebral organoids

The paper shows that spinal cord extracts from sporadic ALS patients induce and spread TDP-43 pathology in human cerebral organoids, mimicking ALS pathophysiology.

Rapid generation of ventral spinal cord-like astrocytes from human iPSCs for modeling non-cell autonomous mechanisms of lower motor neuron disease

This study develops a method to rapidly generate ventral spinal cord-like astrocytes from human iPSCs to model lower motor neuron disease mechanisms.

Optimization of long-term human iPSC-derived spinal motor neuron culture using a dendritic polyglycerol amine-based substrate

This study develops a dPGA substrate to improve long-term culture of h-iPSC-derived motor neurons for studying viability, molecular identity, and electrophysiological activity.

Comparing the potential of microglia preparations generated using different human iPSC-based differentiation methods to model microglia-mediated mechanisms of amyotrophic lateral sclerosis pathophysiology

This study compares transcriptomes of human iPSC-derived microglia generated by different methods to assess their ability to model microglia heterogeneity in ALS.

The McGill-Mouse-Marmoset Platform: A Standardized Approach for High-throughput Imaging of Neuronal Dynamics During Behavior

The paper introduces a standardized platform for high-throughput imaging of neuronal dynamics during behavior in mice and marmosets.

Characterization of human-iPSCs derived spinal motor neurons by single-cell RNA sequencing

The paper uses single-cell RNA sequencing to characterize human iPSC-derived spinal motor neuron subtypes and identifies their molecular profiles.

Characterization of human iPSC-derived astrocytes with potential for disease modeling and drug discovery

This study derives and characterizes human iPSC-derived astrocytes, showing they exhibit physiological traits and respond to inflammatory stimuli, making them suitable for disease modeling and drug discovery.

Groucho/TLE opposes axial to hypaxial motor neuron development

This paper shows that Groucho/TLE regulates axial and hypaxial motor neuron development through non-canonical WNT signaling and suppresses hypaxial traits.