Mathilde Chaineau

Targeting calpastatin pharmacologically restores synaptic proteolysis and preserves motor neurons survival and function in C9orf72 ALS

This study shows that restoring calpastatin activity improves motor neuron function and survival in C9orf72 ALS models by enhancing synaptic proteolysis and NMJ integrity.

A validated antibody toolbox for ALS research

The paper establishes a validated antibody platform for ALS research, identifying high-quality antibodies and revealing protein expression patterns in neurological cell types.

Transcriptome-based screening in TARDBP/TDP-43 knock-in motor neurons identifies the NEDD8-activating enzyme inhibitor MLN4924

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

Mutations in SOD1 induce ALS-related phenotypes in 3D iPSC-derived motor neuron (MN) spheroids

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

Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons

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.

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.

KCC2 as a novel biomarker and therapeutic target for motoneuron degenerative disease

This study identifies KCC2 as an early biomarker and therapeutic target for ALS by showing its downregulation in motor neurons and the ability of KCC2-enhancing compounds to delay disease progression.

An optimized workflow to generate and characterize iPSC-derived motor neuron (MN) spheroids

This study develops a workflow to generate and analyze iPSC-derived motor neuron spheroids, confirming their marker expression and functional activity.

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.

A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosis

This study introduces a streamlined CRISPR workflow to generate isogenic iPSCs with specific ALS-related mutations for modeling the disease.

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.

TNF receptor associated factor 6 interacts with ALS-linked misfolded superoxide dismutase 1 and promotes aggregation

The paper identifies TRAF6 as an interactor of misfolded SOD1 in ALS, showing it promotes aggregation through ubiquitination.