Ashleigh E. Schaffer

RNA exosome-mediated RNA surveillance governs developmental timing in the human cerebellum

This study shows that RNA exosome dysfunction disrupts developmental timing and lineage fidelity in human cerebellar organoids, leading to neurodevelopmental defects.

Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis

This study shows that VAPB P56S mutation causes mitochondrial dysfunction and enhances the integrated stress response, leading to motor neuron disease in ALS.

Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALS

This study develops a human neuromuscular junction model from pluripotent stem cells to investigate synaptic dysfunction in familial ALS and assess therapeutic candidates.

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

This study investigates mRNA processing defects in THOC6 intellectual disability syndrome by analyzing human and mouse models, revealing mRNA mis-splicing and novel TREX tetramer functions.

Adaptation to chronic ER stress enforces pancreatic β-cell plasticity

This study shows chronic ER stress induces β-cell plasticity, but excessive stress leads to identity loss and is linked to T1D progression.