Karen R. Jansen‐West

The paper identifies TMEM106B fibril accumulation as a shared mechanism in neurodegeneration linked to genetic variants in TMEM106B and GRN.

The paper identifies cryptic intronic C9orf72 transcripts as endogenous templates for RAN translation, leading to DPR production in ALS/FTD.

The paper shows that ribosomal quality control factors reduce toxic repeat-associated non-AUG translation from GC-rich repeats by preventing ribosomal stalling.

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.

This study shows that TDP-43 represses a cryptic exon in UNC13A, and genetic variants associated with FTD/ALS increase cryptic exon inclusion when TDP-43 is dysfunctional.

The paper identifies dark and camouflaged gene regions in the human genome, shows how long-read sequencing reduces their prevalence, and applies an algorithm to uncover disease-relevant variants in Alzheimer's Disease Sequencing Project data.

This study demonstrates that long-read sequencing can characterize the C9orf72 G4C2 repeat expansion in disease carriers, showing potential for clinical and genetic discovery applications.