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Pathogenesis in Spinocerebellar Ataxia Type 3 is enhanced by the heat-shock protein family member, Hsc70-4, uncovering new mechanisms of toxicity for this disease and suggesting pleiotropic roles for chaperones.

Unbiased transcriptomics reveals novel insights into the mechanisms that may contribute to regional neurodegeneration in SCA1, and other SCAs in general.

Building on previous work (Lasagna-Reeves et al., 2015) it is shown that polyglutamine ATXN1 oligomers propagate locally in SCA1 mice, and that passive immunotherapy targeting soluble oligomers can lead to an improvement in motor coordination and a modest increase in life span.

Genetic, biochemical, and physiologic analyses reveal differential responses of polyQ SCAs to exercise, and identify Sestrin as a mechanistic target that can be leveraged towards therapeutics for patients unable to exercise, or to supplement the benefits of those who can.

In Drosophila, the loss of Frataxin causes iron accumulation in the nervous system, which in turn enhances sphingolipid synthesis and activation of PDK1 and Mef2, which leads to neurodegeneration.

Changes in the intracellular trafficking of key signaling molecules in endosomes lead to pathophysiology in a rare disease affecting the cerebellum.

The iron/sphingolipid/PDK1/Mef2 pathway is activated in mammals upon loss of Frataxin.

Limiting cytoplasmic streaming contributes to maintaining spatial separation of the sperm contents from the female meiotic spindle after fertilization.

The N-terminus of the FGF14b isoform promotes the inactivation of voltage-gated Na⁺ channels to regulate the resurgent Na⁺ channel current needed for high frequency action potentials.