Achromatopsia mutations target sequential steps of ATF6 activation

Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor dysfunction. We recently identified activating transcription factor 6 (ATF6) as a genetic cause of achromatopsia. ATF6 is a key regulator of the unfolded protein response. In response to endoplasmic reticulum (ER) s...

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Bibliographic Details
Published in:Proc Natl Acad Sci U S A
Main Authors: Chiang, Wei-Chieh, Chan, Priscilla, Wissinger, Bernd, Vincent, Ajoy, Skorczyk-Werner, Anna, Krawczyński, Maciej R., Kaufman, Randal J., Tsang, Stephen H., Héon, Elise, Kohl, Susanne, Lin, Jonathan H.
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2017
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240680/
https://ncbi.nlm.nih.gov/pubmed/28028229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1606387114
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