ea0037oc12.2 | Pituitary – Clinical | ECE2015
Rivas Luis Gustavo Perez
, Theodoropoulou Marily
, Ferrau Francesco
, Nusser Clara
, Kawaguchi Kohei
, Stratakis Constantine
, Faucz Fabio Rueda
, Wildemberg Luiz Eduardo
, Assie Guillaume
, Beschorner Rudi
, Stalla Gunther
, Buchfelder Michael
, Popovic Vera
, Honneger Jurgen
, Bertherat Jerome
, Gadelha Monica R
, Beuschlein Felix
, Komada Masayuki
, Korbonits Marta
, Reincke Martin
We have recently reported that somatic mutations in the ubiquitin-specific protease 8 (USP8) are present in corticotropinomas of patients with Cushings disease and that these mutations reduced the interaction with 14-3-3. Mutant USP8 exhibited higher deubiquitination activity and potentiated EGFR-induced POMC expression (Reincke et al., Nat Genet 2014). To further study the prevalence of these mutations, we have analyzed 134 ACTH-producing corticotropin...