Alexander J. Cammack

The paper develops U7 snRNA therapeutics to correct TDP-43-dependent mis-splicing in ALS, restoring gene expression and neuronal function in human iPSC-derived neurons.

The paper generates isogenic iPSC lines with a C9ORF72 G4C2 repeat expansion to model ALS and FTD, showing both loss- and gain-of-function pathologies.

The paper introduces the Neurolipid Atlas, a lipidomics resource for neurodegenerative diseases, revealing that ApoE4 impairs astrocyte reactivity by promoting cholesterol ester accumulation.

The paper shows that epigenetic variation recorded in mice during development predicts seizure susceptibility, with specific loci linked to human epilepsy genes.

The paper identifies reduced PUFA levels in FTD/ALS models and shows neuronal PUFA supplementation improves survival and reduces neuronal death.

The paper describes the generation and validation of C9orf72 repeat expansion knock-in iPSC lines for ALS and FTD research, showing they differentiate into neurons and display disease-related pathologies.

The paper generates a mouse model with a humanised C9orf72 repeat expansion to study ALS and FTD, and demonstrates a method for creating such repeat expansions in genomic sequences.

This study demonstrates that CRISPR-CasRx reduces C9orf72 repeat RNAs and DPRs in vitro and in vivo, suggesting its therapeutic potential for ALS/FTD.

Calling Cards records protein-DNA interactions over time using transposons, enabling analysis of historical molecular states through sequencing.

This paper introduces self-reporting transposons (SRTs) and the scCC assay to simultaneously capture gene expression and TF binding in single cells, demonstrating their use in cultured cells and mouse cortex.

The paper introduces FLEX Calling Cards, a method to map transcription factor-DNA interactions in specific cell types within heterogeneous tissues using viral delivery and transposon insertion.

This study shows that macrophages are essential for coordinating digit tip regeneration in mice by facilitating histolysis, re-epithelialization, and blastema formation.