Article

Patient-derived gene and protein expression signatures of NGLY1 deficiency

2021-07-29

Abstract excerpt

<h4>ABSTRACT</h4> N-Glycanase 1 (NGLY1) deficiency is a rare and complex genetic disorder. Although recent studies have shed light on the molecular underpinnings of NGLY1 deficiency, a systematic characterization of gene and protein expression changes in patient-derived cells has been lacking. Here, we performed RNA-sequencing and mass spectrometry to determine the transcriptomes and proteomes of 66 cell lines re...

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Literature Corpus work: 2a4576dd-2c0d-5455-9207-82d8fb62cf85
DOI: 10.1101/2021.07.28.453930

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