KEGG   NETWORK: N00319Help
Entry
N00319                      Network                                

Name
Mutation-activated USP8 to EGFR-ERK-ACTH signaling pathway
Definition
USP8* -> EGFR -> ERK1/2 -> ACTH
  Expanded
9101v1 -> 1956 -> (5594,5595) -> 5443
Class
nt06310 CRH-ACTH-cortisol signaling
nt06360 Cushing syndrome
Type
Variant
Pathway
hsa04934  Cushing syndrome
Disease
H01431  Cushing syndrome
H01102  Pituitary adenomas
Gene
9101  USP8; ubiquitin specific peptidase 8
1956  EGFR; epidermal growth factor receptor
5594  MAPK1; mitogen-activated protein kinase 1
5595  MAPK3; mitogen-activated protein kinase 3
5443  POMC; proopiomelanocortin
Variant
9101v1  USP8 mutation
Reference
  Authors
Albani A, Theodoropoulou M, Reincke M
  Title
Genetics of Cushing's disease.
  Journal
Clin Endocrinol (Oxf) 88:3-12 (2018)
DOI:10.1111/cen.13457
Reference
  Authors
Kaiser UB
  Title
Cushing's disease: towards precision medicine.
  Journal
Cell Res 25:649-50 (2015)
DOI:10.1038/cr.2015.53
Reference
  Authors
Theodoropoulou M, Reincke M, Fassnacht M, Komada M
  Title
Decoding the genetic basis of Cushing's disease: USP8 in the spotlight.
  Journal
Eur J Endocrinol 173:M73-83 (2015)
DOI:10.1530/EJE-15-0320
Reference
  Authors
Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M
  Title
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
  Journal
Nat Genet 47:31-8 (2015)
DOI:10.1038/ng.3166
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