Clotilde Lagier‐Tourenne

Recurrent patterns of TOP1-mediated neuronal genomic damage shared by major neurodegenerative disorders

The paper identifies a shared TOP1-mediated mutagenic mechanism in ALS, FTD, and AD through single-cell genomic analysis and experimental validation.

Statins and genetic inhibition of the mevalonate pathway activate an ATF3-STMN2 regenerative program

The paper shows statins and mevalonate pathway inhibition increase STMN2 and ATF3, promoting neuronal regeneration in neurodegenerative disease.

Accurate strand-specific long-read transcript isoform discovery and quantification at bulk, single-cell, and single-nucleus resolution

The paper introduces LRAA, a framework for accurate isoform discovery and quantification in long-read RNA-seq data, outperforming existing methods across multiple benchmarks.

STMN2 protein depletion via translation deficits and stress granules and its compensation in ALS

This study identifies TDP-43-independent mechanisms of STMN2 depletion in ALS, showing acute stress causes proteasomal degradation and translational repression, while chronic stress leads to reduced protein levels, with mRNA upregulation as a compensatory mechanism in some subtypes.

Lysosomal escape and TMEM106B fibrillar core determine TDP-43 seeding outcomes

The paper investigates factors determining TDP-43 seeding outcomes in FTLD-TDP, identifying TMEM106B fibrillar core and lysosomal escape as critical drivers.

FUS controls muscle differentiation and structure through LLPS mediated recruitment of MEF2 and ETV5

This study identifies FUS's role in muscle differentiation and structure through phase separation-mediated recruitment of ETV5 and MEF2, showing its dysfunction in FUS-ALS.

Somatic mosaicism in amyotrophic lateral sclerosis and frontotemporal dementia identifies focal mutations associated with widespread degeneration

The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.

Aberrant splicing in Huntington's disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification.

This study identifies TDP-43 dysfunction and reduced m6A modification as mechanisms causing aberrant splicing in Huntington's disease using mouse and human brain data.

Gasdermin-E mediates mitochondrial damage in axons and neurodegeneration

This study identifies GSDME as a mediator of mitochondrial damage and axon loss in neurodegenerative diseases, showing its role in ALS and FTD models.

Comprehensive preclinical evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9ORF72 disease

This study evaluates human-derived anti-poly-GA antibodies in cellular and animal models of C9ORF72 disease, showing mixed effects on poly-GA levels and disease progression.

iPSC Motor Neurons with Familial ALS Mutations Capture Gene Expression Changes in Postmortem Sporadic ALS Motor Neurons

The paper shows iPSC-derived spinal motor neurons with familial ALS mutations capture gene expression changes seen in postmortem sporadic ALS motor neurons, particularly in TDP-43-related splicing dysregulation.

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation.

This study shows that wild-type FUS rescues ALS-like disease caused by mutant FUS by activating an autoregulatory loop that reduces cytoplasmic mutant FUS levels.

Cytoplasmic accumulation of FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and defects in inhibitory synapses

This study shows that cytoplasmic FUS mislocalization in mice causes behavioral changes and inhibitory synaptic defects without widespread neuronal loss.