Disorders of the endoplasmic reticulum (ER) are an integral part of numerous liver diseases including alpha-1 antitrypsin deficiency (AATD). This grant will analyse previously collected AATD patient samples and the induced pluripotent stem cells (iPSCs) derived from them and use state-of-the-art technologies such as deep visual proteomics, single cell proteomics (SCP) and single-nucleus RNA sequencing (snRNAseq) to improve our understanding of the disease and disease progression in children and adults and to find predictive biomarkers. The acquired expertise will subsequently be applied to other liver diseases characterized by ER stress.

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