Folliculin variants linked to Birt-Hogg-Dube syndrome are targeted for proteasomal degradation
Lene Clausen, Amelie Stein, Martin Grønbæk-Thygesen, Lasse Nygaard, Cecilie L. Søltoft, Sofie Vincents Nielsen, Michael Lisby, Tommer Ravid, Kresten Lindorff‐Larsen, Rasmus Hartmann‐Petersen
The paper shows that BHD-linked FLCN variants cause loss of function via proteasomal degradation and misfolding, with potential therapeutic implications for stabilization.
PLoS Genetics · Nov 2, 2020Peer-reviewedMolecular Biology