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Protein O-GlcNAcylation is a fast-cycling and nutrient-sensitive post-translational modification (PTM) involved in several functions, including hepatic metabolsm. The substrate of O-GlcNAcylation is UDP-GlcNAc, the end-product of the hexosamine biosynthesis pathway that is initiated by glutamine. O-...
ORGANISM(S): Mus musculus (Mouse) 
2022-09-06 | PXD024526 | Pride
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), where loss-of-function (LoF) variants cause a rare neurodevelo...
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