Sam Bonsall

Pathology-defined cell states reveal reproducible transcriptomic signatures across ALS cortical single-nucleus RNA-seq studies

The paper shows that using pathology-defined cell states improves reproducibility of transcriptomic signatures in ALS snRNA-seq studies compared to conventional case-control analyses.

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.

Antisense oligonucleotide depletion of CCDC146 is a broad-spectrum therapeutic strategy for ALS

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.