Mathieu Fischer

CREB3 gain of function variants protect against ALS

The paper identifies a protective variant CREB3R119G that reduces ALS risk and progression by modulating CREB3 activity in vulnerable neurons.

Robust CRISPR/dCas13 RNA blockers specifically perturb miRNA-target interactions and rescue type 1 myotonic dystrophy pathology

This paper develops CRISPR-Lock, a CRISPR/dCas13 RNA blocker that disrupts miRNA-target interactions and rescues DM1 pathology by correcting splicing biomarkers and reducing nuclear foci.

Genetic ablation of SOD1G37R selectively from corticofugal projection neurons protects corticospinal neurons from degeneration without affecting ALS onset and progression

The paper shows that removing mutant SOD1G37R from corticofugal projection neurons prevents their degeneration but does not affect ALS onset or progression.

Absence of subcerebral projection neurons delays disease onset and extends survival in a mouse model of ALS

This study shows that removing subcerebral projection neurons in ALS mice delays disease onset and improves survival, supporting the corticofugal hypothesis of ALS.

Early alterations of RNA metabolism and splicing from adult corticospinal neurons in an ALS mouse model

The paper identifies early RNA metabolism and splicing alterations in corticospinal neurons in an ALS mouse model, suggesting shared mechanisms across ALS-related genes.