PMID- 31884629
OWN - NLM
STAT- MEDLINE
DCOM- 20200205
LR  - 20201106
IS  - 0065-2598 (Print)
IS  - 2214-8019 (Electronic)
IS  - 0065-2598 (Linking)
VI  - 1185
DP  - 2019
TI  - Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases.
PG  - 305-310
LID - 10.1007/978-3-030-27378-1_50 [doi]
AB  - 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.
FAU - Chiang, Wei-Chieh Jerry
AU  - Chiang WJ
AD  - Department of Pathology, University of California, San Diego, La Jolla, CA, USA. 
      wcchiang@ucsd.edu.
FAU - Kroeger, Heike
AU  - Kroeger H
AD  - Department of Pathology, University of California, San Diego, La Jolla, CA, USA.
FAU - Chea, Lulu
AU  - Chea L
AD  - Department of Pathology, University of California, San Diego, La Jolla, CA, USA.
FAU - Lin, Jonathan H
AU  - Lin JH
AD  - Department of Pathology, University of California, San Diego, La Jolla, CA, USA.
LA  - eng
GR  - I01 BX002284/BX/BLRD VA/United States
GR  - R01 EY027335/EY/NEI NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Adv Exp Med Biol
JT  - Advances in experimental medicine and biology
JID - 0121103
RN  - 0 (ATF6 protein, human)
RN  - 0 (Activating Transcription Factor 6)
SB  - IM
MH  - Activating Transcription Factor 6/*metabolism
MH  - Endoplasmic Reticulum Stress
MH  - Golgi Apparatus
MH  - Humans
MH  - Mutation
MH  - Protein Folding
MH  - Retinal Cone Photoreceptor Cells/*pathology
MH  - *Signal Transduction
PMC - PMC7643264
MID - NIHMS1642040
OTO - NOTNLM
OT  - ATF6
OT  - Achromatopsia
OT  - Cone photoreceptor
OT  - Cone-rod dystrophy
OT  - ER stress
OT  - Retinal degeneration
OT  - Unfolded protein response
EDAT- 2019/12/31 06:00
MHDA- 2020/02/06 06:00
PMCR- 2020/11/05
CRDT- 2019/12/30 06:00
PHST- 2019/12/30 06:00 [entrez]
PHST- 2019/12/31 06:00 [pubmed]
PHST- 2020/02/06 06:00 [medline]
PHST- 2020/11/05 00:00 [pmc-release]
AID - 10.1007/978-3-030-27378-1_50 [doi]
PST - ppublish
SO  - Adv Exp Med Biol. 2019;1185:305-310. doi: 10.1007/978-3-030-27378-1_50.