Sandra Almeida

Elevating Neuronal CYLD Causes Frontotemporal Dementia (FTD)-Relevant Behavioral and Physiological Deficits

This study shows that elevating neuronal CYLD causes FTD-like behavioral and physiological deficits in mice, with M719V mutation acting as a gain-of-function.

Antisense oligonucleotide targeting pathogenic sense repeat RNA in C9ORF72 suppresses production of antisense-dependent dipeptide repeat proteins implicated in ALS/FTD

This study investigates the role of antisense and sense repeat RNAs in producing dipeptide repeat proteins in C9ORF72 expansion carriers and shows that targeting sense RNA with ASOs reduces both sense- and antisense-dependent DPR proteins.

Cellular and molecular phenotypes of C9orf72 ALS/FTD patient derived iPSC-microglia mono-cultures

This study examines C9orf72 ALS/FTD patient-derived iPSC-microglia mono-cultures, finding they form RNA foci, have reduced C9orf72 protein, and show endosomal-lysosomal dysfunction, but no significant microglial-enriched gene expression differences.