KEGG NETWORK: N00319

NETWORK: N00319

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*) USP8 mutation

Reference

PMID:28850717

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

PMID:25930709

Authors

Kaiser UB

Title

Cushing's disease: towards precision medicine.

Journal

Cell Res 25:649-50 (2015)
DOI:10.1038/cr.2015.53

Reference

PMID:26012588

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

PMID:25485838

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

All links

Pathway (1)   
   KEGG PATHWAY (1)   
Network (1)   
   KEGG VARIANT (1)   
Gene (5)   
   KEGG GENES (5)   
Literature (4)   
   PubMed (4)   
All databases (11)   

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