The deposition of Matrin 3, a DNA/RNA binding protein implicated in ALS and FTD, results in neurodegeneration dependent upon its localization, self-association, and ability to bind nucleic acids.
Conditional deletion of the DYT1 dystonia protein torsinA causes selective cell autonomous neurodegeneration of striatal and brainstem cholinergic neurons, and severe motor behavioral abnormalities.
Two seemingly distinct cellular stress response pathways that contribute to neurodegeneration after axonal insults are now revealed to be under the control of a single master regulator of the neuronal injury response, the kinase DLK.
Mutations that reduce the functioning of rab7 may underlie the degeneration of sensory and motor nerves in Charcot-Marie-Tooth 2B disease, which suggests increasing endolysosomal function as a therapy.
Rapamycin treatment inhibits mTOR activity and preserves ATP levels in neurons derived from induced pluripotent stem cells from a maternally inherited Leigh syndrome patient.
STOMP is a technique that can determine the proteomic composition of any feature that is identifiable by laser scanning microscopy and is at least one cubic micron in size.
Restoration of endogenous frataxin levels reverses neurologic and cardiac phenotypes associated with Friedreich's ataxia in adult mice even after significant motor dysfunction.
