Rapamycin/Sirolimus – one drug, many uses

It is becoming increasingly clear that some rare diseases share characteristics in terms of both symptoms and underlying pathogenesis. Birt-Hogg-Dubé (BHD) syndrome is an excellent example of this. BHD shares kidney symptoms with the cancer syndromes Von Hippel Lindau (VHL) and tuberous sclerosis complex (TSC); lung symptoms with Lymphangioleiomyomatosis (LAM); and skin symptoms with TSC … Read more

FLCN’s divergent DENN domain evolutionarily conserved

Last summer, Nookala et al., published the structure of the C-terminus of the FLCN protein, and showed that this portion of FLCN formed a divergent DENN domain. DENN domain proteins have Guanine nucleotide exchange factor (GEF) activity towards Rab GTPases, which are important for membrane trafficking, suggesting FLCN is a membrane trafficking protein. To read … Read more

Folliculin regulates stem cells’ exit from pluripotency

A stem cell requires two properties: self-renewal and potency. Self-renewal describes stem cell division to generate more stem cells. Potency describes stem cell division where the new cell takes on different characteristics to the progenitor cell and ultimately becomes a different cell type; this process is called differentiation and is particularly important during embryonic development. … Read more