Mutations in the deubiquitinase gene USP8 cause Cushing's disease
Mutations in the deubiquitinase gene USP8 cause Cushing's disease
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Author / Creator
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 and Komada, Masayuki
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Martin Reincke, Martin Fassnacht and colleagues identify somatic mutations in the
USP8
deubiquitinase gene in corticotroph adenomas in Cushing's disease. The mutations enhanced proteolytic cleavage and catalytic activity of USP8, which led to activation of EGF receptor signaling.
Cushing's disease is caused by corticotroph adenomas of the...
Alternative Titles
Full title
Mutations in the deubiquitinase gene USP8 cause Cushing's disease
Authors, Artists and Contributors
Author / Creator
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
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1641200517
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1641200517
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3166