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Dokumenttyp:
journal article 
Autor(en):
Reincke, Martin; Sbiera, Silviu; Hayakawa, Akira; Theodoropoulou, Marily; Osswald, Andrea; Beuschlein, Felix; Meitinger, Thomas; Mizuno-Yamasaki, Emi; Kawaguchi, Kohei; Saeki, Yasushi; Tanaka, Keiji; Wieland, Thomas; Graf, Elisabeth; Saeger, Wolfgang; Ronchi, Cristina L; Allolio, Bruno; Buchfelder, Michael; Strom, Tim M; Fassnacht, Martin; Komada, Masayuki 
Titel:
Mutations in the deubiquitinase gene USP8 cause Cushing's disease. 
Abstract:
Cushing's disease is caused by corticotroph adenomas of the pituitary. To explore the molecular mechanisms of endocrine autonomy in these tumors, we performed exome sequencing of 10 corticotroph adenomas. We found somatic mutations in the USP8 deubiquitinase gene in 4 of 10 adenomas. The mutations clustered in the 14-3-3 protein binding motif and enhanced the proteolytic cleavage and catalytic activity of USP8. Cleavage of USP8 led to increased deubiqutination of the EGF receptor, impairing its...    »
 
Zeitschriftentitel:
Nat Genet 
Jahr:
2015 
Band / Volume:
47 
Heft / Issue:
Seitenangaben Beitrag:
31-8 
Sprache:
eng 
Print-ISSN:
1061-4036 
TUM Einrichtung:
Institut für Humangenetik