Article
Achromatopsia mutations target sequential steps of ATF6 activation.
Proceedings of the National Academy of Sciences of the United States of America - 10 Jan 2017
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
Abstract excerpt
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) stress, ATF6 migrates from the ER to Golgi to undergo regulated intramembrane proteolysis to release a cytosolic...
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