Month: October 2013

Earlier this week, the Rare Diseases Genomes Project was announced, which aims to sequence the genomes of 10,000 rare disease patients in the next three years. This project is a collaborative effort between the University of Cambridge, Illumina Inc. and Genomics England Ltd, and is a pilot project for Genomics England’s 100k Genome Project. In … Read more

It was recently reported that FLCN activates mTORC1 signalling in response to amino acid stimulation by interacting with RagA and RagB at the cytosolic lysosome surface, possibly by acting as a GEF towards these proteins (Petit et al., 2013). Another recent study from a group at MIT also reports that FLCN activates mTORC1 signalling in … Read more

Our BHD literature review, “What is BHD?”, in the “For Researchers” section of BHDSyndrome.org has been updated. This is the first major update since March 2011, and incorporates all literature published since then, including Tsun et al., 2013, who earlier this week reported that FLCN activates mTORC1 activity, and will be the subject of next … Read more

mTOR signalling controls the balance of anabolic and catabolic cell metabolism, in response to the cellular environment. A link between FLCN and mTOR signalling was first reported in 2006 by Baba et al., and subsequent research has shown FLCN to both activate and inhibit mTOR signalling, indicating that FLCN’s role in this process is not … Read more