Rebecca L. Simkin

The neuropathy-causing GARS1{triangleup}ETAQ mutation drives pathology in subsets of motor and sensory neurons in mice

This study shows that the Gars{Delta}ETAQ mutation in mice causes specific peripheral nerve pathology in motor and sensory neurons, affecting multiple functions and providing a model for CMT2D research.

Innervation and cargo-specific axonal transport impairments in FUS-ALS mice with gain and loss of function

This study identifies sex-dependent motor neuron dysfunction and cargo-specific axonal transport impairments in FUS-ALS mice, linking endosomal transport defects to denervation in ALS.

Creation of de novo cryptic splicing for ALS/FTD precision medicine

The paper develops TDP-REG, a system using cryptic splicing to enable precise gene therapy activation in diseased neurons for ALS/FTD.

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy