Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases.
Adv Exp Med Biol
; 1185: 305-310, 2019.
Article
en En
| MEDLINE
| ID: mdl-31884629
ABSTRACT
Activating transcription factor 6 (ATF6) is a key regulator of the unfolded protein response (UPR). In response to endoplasmic reticulum (ER) stress, ATF6 is transported from the ER to the Golgi apparatus where it is cleaved by intramembrane proteolysis, releasing its cytosolic fragment. The cleaved ATF6 fragment, which is a basic leucine zipper (bZip) transcription factor, translocates to the nucleus and upregulates the expression of ER protein-folding chaperones and enzymes. Mutations in ATF6 cause heritable forms of cone photoreceptor dysfunction diseases. These mutations include missense, nonsense, splice site, and deletion or duplication changes found across the entire ATF6. To date, there are 11 ATF6 mutations reported, and we classified them into three classes based on their functional defects that interrupt distinct steps in the ATF6 signaling pathway.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Transducción de Señal
/
Células Fotorreceptoras Retinianas Conos
/
Factor de Transcripción Activador 6
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos