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Kathryn O’Keefe

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Open access Jul 2026

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism

It is reported that X-linked Dystonia-Parkinsonism (XDP), caused by a non-coding retrotransposon-associated repeat insertion in TAF1, involves a significant imbalance of tau isoforms and the accumulation of hyperphosphorylated, four-repeat tau in the brain.

C. J. Reyes, Aloysius Domingo, E. Penney et al. · 0 citations
Open access Jul 2026

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

An allelic series of CRISPR-engineered human induced pluripotent stem cell (hiPSC) clones harboring mono- and bi-allelic POGZ deletions are created and shared molecular consequences suggest key points of convergence that connect gene regulation to neuronal function in the etiology of neurodevelopmental pathologies.

M. Moyses-Oliveira, Yating Liu, Serkan Erdin et al. · 1 citation