This Month in AJP

Activating transcription factor 6 (ATF6) is critical for endoplasmic reticulum (ER) stress; however, the effect of disease-associated ATF6 variants on retinal cell types is unknown. Using bulk RNA-seq transcriptomes from retinal organoids generated from patients with achromatopsia (ACHM) carrying homozygous loss-of-function ATF6 variants, Lee, Diaz-Aguilar, and Min et al (Am J Pathol 2023, XX –XX) studied this effect. Mitochondrial respiratory complex gene expression was dysregulated and mitochondrial morphology disrupted in the ACHM retinal organoids.
Source: American Journal of Pathology - Category: Pathology Tags: This Month in AJP Source Type: research