Casey N. Cook

This paper develops and characterizes novel phospho-ubiquitin antibodies to detect low levels of p-S65-Ub, a marker of mitochondrial damage, in cells and tissues.

The paper shows that loss of TDP-43 function leads to the expression of de novo proteins from mis-spliced mRNA transcripts in ALS/FTD.

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 the PAF1 complex as a mediator of expanded GGGGCC repeat transcription in C9orf72-associated FTD, showing its role in RNA toxicity and disease progression.