Article

Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-Glycosylation

2022-06-27

Abstract excerpt

<title>Abstract</title> <p>The galactosyltransferase T-synthase exclusively synthesizes the T-antigen, a ubiquitous Oglycan core structure. Its function is dependent on its specific molecular chaperone, Cosmc (<italic>C1GALT1C1</italic>). In two maternal half-brothers with developmental delay, immunodeficiency, short stature, thrombocytopenia and acute kidney injury (AKI) resembling atypical hemolytic uremic synd...

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Literature Corpus work: 6e855389-181e-5779-b653-57c6ce576445
DOI: 10.21203/rs.3.rs-1716400/v1

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