Achromatopsia mutations target sequential steps of ATF6 activation [Neuroscience]

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...

Source: Proceedings of the National Academy of Sciences - January 9, 2017 Category: Science Authors: Wei–Chieh Chiang, Priscilla Chan, Bernd Wissinger, Aȷoy Vincent, Anna Skorczyk–Werner, Macieȷ R. Krawczyłski, Randal J. Kaufman, Stephen H. Tsang, Elise Heon, Susanne Kohl, Jonathan H. Lin Tags: Biological Sciences Source Type: research