We report on three families in which CPLANE2/RSG1 variants are associated with Oral-Facial-Digital syndrome. Experiments in Xenopus reveal these missense variants to be “separation of function” alleles for Rsg1. Because one of the disease variants is within the GTP-binding pocket of the Rsg1 GTPas...
Candida albicans is an opportunistic pathogenic yeast that is commensally found in variety of host niches. Rhb1 serves as an positive regulator of Tor1 kinase which is the central component of the TOR signaling in controlling several virulence factors. Here, we used microarray to determined changes ...
