BHD Literature Database Updated

The literature data base has been updated with three papers:

Petit et al. show that under basal cell conditions FLCN was broadly expressed in the cell, but under amino acid starvation, was quickly recruited to the cytosolic surface of lysosomes in a FNIP1-dependent manner. Upon restimulation with amino acids, FNIP1 and FLCN activate RagA or RagB, which in turn activates mTORC1 signalling, and rapidly dissociate from the lysosome. Subsequently, Ser211 of the transcription factor TFEB is phosphorylated, precluding it from the nucleus and inhibiting its function. This suggests that when amino acid levels are low, FNIP1 and FLCN are recruited to the lysosome, meaning that they can activate the Rag proteins and mTOR signalling, rapidly once amino acid levels are restored.

Czyzyk-Krzeska and McCormack briefly review the clinical symptoms and current research on FLCN and BHD, as an introduction to a special edition of Familial Cancer, which publishes the abstracts from the Fourth Birt-Hogg-Dubé Symposium held in Cincinnati in 2012.

Berlin et al. present the case of a patient presenting with multiple facial papules on the nose, in which one of the differential diagnoses was BHD, and was the subject of the Grand Rounds Quiz in the August issue of the Journal of the American Academy of Dermatology.

To find out more, download the latest version of the database here.

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