Autophagy receptor CALCOCO2/NDP52 takes center stage in Crohn disease.
Autophagy
; 9(8): 1256-7, 2013 Aug.
Article
en En
| MEDLINE
| ID: mdl-23820297
ABSTRACT
To advance understanding of the complex genetics of Crohn disease (CD) we sequenced 42 whole exomes of patients with CD and five healthy control individuals, resulting in identification of a missense mutation in the autophagy receptor calcium binding and coiled-coil domain 2 (CALCOCO2/NDP52) gene. Protein domain modeling and functional studies highlight the potential role of this mutation in controlling NFKB signaling downstream of toll-like receptor (TLR) pathways. We summarize our recent findings and discuss the role of autophagy as a major modulator of proinflammatory signaling in the context of chronic inflammation.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Represoras
/
Proteínas Nucleares
/
Colitis Ulcerosa
/
Enfermedad de Crohn
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Autophagy
Año:
2013
Tipo del documento:
Article