Kyrah M. Thumbadoo

The paper develops an allele-selective qPCR assay to quantify X-chromosome inactivation in iPSC models of UBQLN2 ALS/FTD and identifies clones retaining XCI for further study.

This paper performs a meta-analysis of UBQLN2 genetic variants in ALS/FTD, finding sex-specific differences in age at onset and aggregate burden in brain tissue.

The paper compares ubiquilin 2 and TDP-43 aggregate distribution in UBQLN2-linked and sporadic ALS/FTD cases across the CNS.

The paper identifies a hippocampal protein aggregation signature that distinguishes pathogenic from wildtype UBQLN2 in ALS/FTD cases.