Hayley S. McLoughlin

The paper identifies sense and antisense RAN proteins as a common mechanism in CAG-SCAs, showing their accumulation and toxicity in brain regions and demonstrating metformin's ability to reduce RAN protein levels.

This study shows that ASO treatment rescues oligodendrocyte dysfunction in SCA3 mice by targeting mutant ATXN3, suggesting potential for glial-targeted therapies in neurodegenerative diseases.

This study uses longitudinal single-nucleus RNA sequencing to analyze transcriptional dynamics in SCA1 cerebellum, identifying early cellular changes and applying deep learning to predict disease state.

The paper uses snRNA-seq to study Purkinje cells in SCA7 mice, revealing zebrin-II subtype loss as a key feature of polyglutamine ataxias.

The paper measures blood neurofilament light chain (NfL) levels in a transgenic SCA3 mouse model and finds they correlate with disease progression and severity.

This study identifies impaired oligodendrocyte maturation as an early feature in SCA3 disease pathogenesis through longitudinal transcriptomic analysis and functional validation in mice.

The paper identifies neurochemical biomarkers of SCA3 pathology in mouse models and shows their reversibility with ATXN3 reduction.

This paper describes a novel SCA3 human embryonic stem cell line and shows that antisense oligonucleotides reduce ATXN3 aggregation and prevent aggresome formation.