Molecular BiologyPLoS GeneticsPeer-reviewed
Folliculin variants linked to Birt-Hogg-Dube syndrome are targeted for proteasomal degradation
Lene Clausen, Amelie Stein, Martin Grønbæk-Thygesen…·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.
33 citations