Folliculin variants linked to Birt-Hogg-Dub é syndrome are targeted for proteasomal degradation
In conclusion, we propose that most BHD-linkedFLCN missense variants and small in-frame deletions operate by causing misfolding and degradation of the FLCN protein, and that stabilization and resulting restoration of function may hold therapeutic potential of certain disease-linked variants. Our computational saturation scan encompassing both missense variants and single site deletions inFLCN may allow classification of rare FLCN variants of uncertain clinical significance.
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Lene Clausen Source Type: research