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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Bibliographic Details
Published in:	The Journal of clinical investigation Vol. 135; no. 3
Main Authors:	Lee, Eun-Jin, Kim, Kyle, Diaz-Aguilar, Monica Sophia, Min, Hyejung, Chavez, Eduardo, Steinbergs, Korina J., Safarta, Lance A., Zhang, Guirong, Ryan, Allen F., Lin, Jonathan H.
Format:	Journal Article
Language:	English
Published:	United States American Society for Clinical Investigation 01.02.2025
Subjects:	Activating Transcription Factor 6 - genetics Activating Transcription Factor 6 - metabolism Animals Blindness Causes of Color Vision Defects - genetics Color Vision Defects - metabolism Color Vision Defects - pathology Deafness Development and progression eIF-2 Kinase - genetics eIF-2 Kinase - metabolism Endoplasmic Reticulum Stress - genetics Female Gene mutations Genetic aspects Genetics Health aspects Hearing loss Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - metabolism Hearing Loss, Sensorineural - pathology Humans Male Mice Mice, Knockout Mutation Ophthalmology Physiological aspects Protein kinases Proteins Transcription factors Type 2 diabetes Unfolded Protein Response - genetics United States California Genetics Retinopathy Ophthalmology Molecular genetics Genetic diseases
ISSN:	1558-8238, 0021-9738, 1558-8238
Online Access:	Get full text
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