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.
Analysis of knockout and knockdown melanoma cells and TCGA melanoma data shows that the microphthalmia-associated transcription factor (MITF) is a major repressor of extracellular matrix (ECM) and focal adhesion genes.
Knocking out Folliculin (FLCN) in human renal epithelial cells activates STAT1/2-mediated gene expression, independent of interferon, uncovering a tissue-specific process potentially relevant in the cancer syndrome Birt-Hogg-Dubé (BHD).
Integrating gene expression with genetic association data provided insights into the functional relevance of genetic risk for a complex disease, thus implicating folliculin as a putative diabetic retinopathy susceptibility gene.
In nematode worms, NSUN-1 methylates ribosomal RNA and influences phenotypes related to aging, stress resistance, germ line development, and cuticle integrity by regulating translation of specific mRNAs.