Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome

Activating transcription factor 6 (ATF6) is a key regulator of the unfolded protein response (UPR) and is important for ER function and protein homeostasis in metazoan cells. Patients carrying loss-of-function ATF6 disease alleles develop the cone dysfunction disorder achromatopsia. The effect of lo...

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Principais autores:	Eun-Jin Lee, Kyle Kim, Monica Sophia Diaz-Aguilar, Hyejung Min, Eduardo Chavez, Korina J. Steinbergs, Lance A. Safarta, Guirong Zhang, Allen F. Ryan, Jonathan H. Lin
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	American Society for Clinical Investigation 2025-02-01
סדרה:	The Journal of Clinical Investigation
נושאים:	Genetics Ophthalmology
גישה מקוונת:	https://doi.org/10.1172/JCI175562
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