MRC Prion Unit

MAPT mutations are associated with rDNA transcriptional hyperactivation and nucleolar stress in cellular models

Abstract Tau is traditionally known for its role in microtubule stabilisation, with its pathological aggregation central to tauopathies such as Alzheimer’s disease (AD) and frontotemporal dementia (FTD). Recent evidence suggests that tau also plays important nuclear and nucleolar...

A brief acceptance and commitment therapy intervention for individuals at risk of neurodegenerative disease: A translational study in inherited prion disease

Living at risk of a neurodegenerative condition such as inherited prion disease (IPD) is associated with substantial psychological burden, yet evidence-based supportive interventions are lacking. This unmet need is likely to grow as advances in biomarkers and predictive testing l...

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures

We developed a high-content screening to investigate how Alzheimer’s disease (AD) genetic risk factors may affect synaptic mechanisms in rat primary neuronal cultures. Of the target genes identified, we found that Plcg2 downregulation in mouse dentate gyrus neurons consistently d...

Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset

Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis. Objectives...