FNIP1 is alternatively spliced during mesoderm differentiation

Earlier this year, it was reported that FLCN, along with its interacting partners FNIP1 and FNIP2, regulates stem cell exit from pluripotency. In stem cells, the pluripotency transcription factor TFE3 was found in the nucleus and able to activate target genes. Upon differentiation signals, FLCN, FNIP1 and FNIP2 together exclude TFE3 from the nucleus, thus … Read more

Autophagy dysregulation is a common feature of hereditary kidney cancer syndromes

Autophagy is an adaptive catabolic process which recycles cellular proteins and organelles to produce energy, allowing cells to survive in stressful conditions, such as hypoxia or starvation. Autophagy can promote cell survival or apoptosis, and as such both increased and decreased autophagy is able to promote tumorigenesis (Levine and Kroemer, 2008). Enhanced autophagy can allow … Read more

Is there a role for collagen in Birt-Hogg-Dubé syndrome?

Collagen, estimated to account for 25 – 35% of all protein in the human body (Canty and Kadler, 2005), is responsible for maintaining the structure of fibrous tissues such as bone, tendons, ligaments and skin (DiLullo et al., 2002). However, it is increasingly clear that collagen also functions in molecular signalling networks. Using phosphoproteomic analysis, a … Read more

A first step towards a gene therapy for BHD

The premise of gene therapy is to introduce a functional copy of a gene in to cells where one or both copies are missing, meaning that this approach is only appropriate for those diseases caused by a straightforward loss of gene function. The greatest challenge facing the field is how to deliver a gene to … Read more