Achromatopsia mutations target sequential steps of ATF6 activation
Achromatopsia mutations target sequential steps of ATF6 activation
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United States: National Academy of Sciences
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Language
English
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United States: National Academy of Sciences
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Contents
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 under...
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Full title
Achromatopsia mutations target sequential steps of ATF6 activation
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5240680
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5240680
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1606387114