Anna Karydas

Radiogenomics of C9orf72 expansion carriers reveals global transposable element de-repression and enables prediction of thalamic atrophy and clinical impairment

The paper investigates C9orf72 expansion carriers using radiogenomics to link peripheral blood transcriptomics with thalamic atrophy and clinical impairment, finding global transposable element de-repression and associations between C9orf72 expression and disease severity.

Manifestations of genetic risk for Alzheimer's Disease in the blood: a cross-sectional multi-omic analysis in healthy adults aged 18-90+

This study identifies blood-based biomarkers associated with Alzheimer's disease genetic risk variants in a large cohort of healthy adults, showing effects from early adulthood and sex-specific patterns.

Tau Secretion and Propagation Is Regulated by p300/CBP via Autophagy-Lysosomal Pathway in Tauopathy

This study identifies p300/CBP as a regulator of tau secretion via the autophagy-lysosomal pathway, showing its role in tau propagation in tauopathies.

CRISPR-Cas9 targeted deletion of the C9orf72 repeat expansion mutation corrects cellular phenotypes in patient-derived iPS cells

CRISPR-Cas9 removes the C9orf72 repeat expansion in iPS cells, reducing RNA foci and promoter hypermethylation without affecting C9orf72 expression.

Cytokine and Leukocyte Profiling Reveal Pro-Inflammatory and Autoimmune Features in Frontotemporal Dementia Patients