Laura P.W. Ranum

This study shows that PERK deficiency worsens molecular, structural, and network damage in mice after repetitive mild traumatic brain injury.

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.

Metformin reduces RAN proteins, improves splicing, and enhances behavioral and neuropathological outcomes in SCA8 BAC mice.

This study uses Ca2+ imaging in a SCA8 mouse model to show hyperconnectivity in neocortical networks, with significant changes in sensory and association cortices predicting disease state.

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 investigates how STAU1 interacts with mTOR to hyperactivate it and inhibit autophagy in neurodegenerative disease models.

This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.

This study shows longer G4C2 repeats in C9orf72 transgenic mice lead to earlier disease onset, higher penetrance, and more RNA foci, with alternative splicing changes as early biomarkers.