Janice Robertson

The paper constructs a single-nucleus transcriptome atlas of the orbitofrontal cortex in ALS and identifies cell-type-specific transcriptional changes, introducing a deep learning model to analyze alternative polyadenylation.

This study shows that TDP-43 SUMOylation is a stress response that protects neurons, and its disruption is linked to aging and disease.

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

This study identifies KCC2 as an early biomarker and therapeutic target for ALS by showing its downregulation in motor neurons and the ability of KCC2-enhancing compounds to delay disease progression.

This study shows that loss of C9orf72 disrupts the Ran-GTPase gradient and creates diverse cytoplasmic Importin β-1 granules in neurons, linking it to nucleocytoplasmic transport defects.

This study shows TDP-43 stabilizes G3BP1 transcripts via direct binding, and TDP-43 depletion reduces G3BP1 protein levels, contributing to stress granule dysfunction in ALS/FTD.

The paper identifies an alternative open reading frame (altORF) within the FUS gene that contributes to toxicity in neurodegenerative models.

The paper identifies TRAF6 as an interactor of misfolded SOD1 in ALS, showing it promotes aggregation through ubiquitination.

The paper validates antibodies against the C9ORF72 protein, finding one specific monoclonal antibody and highlighting issues with others used in published studies.