Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases
| Autor: | Jonathan H. Lin, Wei-Chieh Chiang, Heike Kroeger, Lulu Chea |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Protein Folding
Chemistry ATF6 Endoplasmic reticulum Activating transcription factor Golgi Apparatus Golgi apparatus Endoplasmic Reticulum Stress Article Cell biology Activating Transcription Factor 6 03 medical and health sciences symbols.namesake 0302 clinical medicine RNA splicing Mutation symbols Unfolded protein response Retinal Cone Photoreceptor Cells Humans 030212 general & internal medicine Signal transduction Transcription factor Signal Transduction |
| Zdroj: | Adv Exp Med Biol Retinal Degenerative Diseases ISBN: 9783030273774 |
| ISSN: | 0065-2598 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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