Article

The Endoplasmic Reticulum Proteostasis Regulator ATF6 is Essential for Human Cone Photoreceptor Development

2020-10-04

Abstract excerpt

Dysregulation of the endoplasmic reticulum (ER) Unfolded Protein Response (UPR) is implicated in the pathology of many human diseases associated with ER stress. Inactivating genetic variants in the UPR regulator Activating Transcription Factor 6 (ATF6) cause severe congenital heritable vision loss in patients by an unknown pathomechanism. To investigate this, we generated retinal organoids from patient iPSCs carr...

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Literature Corpus work: 541efa0d-5cef-5b1d-8d59-af5cead24516
DOI: 10.1101/2020.10.04.325019

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