Alyssa N. Coyne

The paper identifies molecular and clinical subgroups of ALS using TDP-43 loss-of-function markers from patient-derived iPS motor neurons, revealing distinct disease severity and clinical outcomes.

The paper shows that TDP-43 pathology causes a cryptic exon in G3BP1 to be included in neurons, leading to a protein that disrupts stress granule dynamics in ALS/FTD.

This paper introduces pan-Expansion Microscopy to visualize nuclear pore complex plasticity, revealing LINC complex-dependent diameter biases and nucleoporin repositioning in an ALS model.

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

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

The paper introduces NOVA, a deep learning model for analyzing organelle structures in neurons, revealing novel ALS mechanisms through phenotypic changes in TDP-43 and P-bodies.

This study shows that targeting G2C4 antisense repeat RNA, not G4C2 sense RNA, mitigates TDP-43 dysfunction in C9orf72 ALS/FTD patient neurons, explaining the failure of previous G4C2 ASO clinical trials.

The paper performs an integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients to identify dysregulated pathways and validate them in vivo and in postmortem data.

The paper identifies POM121 as a critical nucleoporin affected by C9orf72 repeat RNA, leading to nuclear pore complex disassembly and neuronal toxicity in ALS/FTD.