BHD Literature Database Updated

The literature database has been updated with three papers.

Basic research:

Dunlop et al. show that FLCN enhances basal autophagic flux through its interaction with the autophagy proteins GABARAP and ULK1. The authors find that FLCN binding to GABARAP is enhanced by FNIP1 and FNIP2, and inhibited by ULK1. ULK1 inhibits FLCN’s interaction with GABARAP by phosphorylating three novel phosphorylation sites at S406, S537 and S542. Dunlop et al. also show that reduced autophagy is likely to contribute to renal tumorigenesis in BHD, as autophagy is reduced in patient tumours – as measured by increased SQSTM1 and GABARAP expression – and BHD patient FLCN mutations that truncate the C-terminal end of the protein show reduced binding to GABARAP.

This study was partly funded by the Myrovlytis Trust.

Khabibullin et al. show that loss of FLCN has distinct effects in human bronchial epithelital (HBE) cells and small airway epithelial (SAEC) cells. Loss of FLCN in HBE cells led to reduced AMPK signalling and increased cell-cell adhesion, but no effects on mTOR signalling. Conversely, loss of FLCN in SAEC cells led to increase mTOR signalling with no effect on AMPK signalling or cell-cell adhesion. The authors also show that although mice heterozygous for a FLCN deletion do not display spontaneous airway enlargement, their lungs do show increased elastance and interstitial edema when exposed to increased pulmonary mechanical stress.

This study was partly funded by the Myrovlytis Trust. This paper is freely available to download from the BHD Articles Library: Basic Research.

Clinical reviews:

Kuroda et al. provide a literature review of the clinical pathological features of BHD-associated renal tumours. This paper is freely available to download from the BHD Articles Library: Clinical Research.

To find out more, the latest version of the database is available to download here

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