American journal of medical genetics. Part AHumansInfantCongenital Disorders of GlycosylationDevelopmental DisabilitiesExome Sequencing
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma.
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti-Pierri, Sally Ann Lynch
Published: 202610.1002/ajmg.a.64275
Abstract
O-GlcNAc transferase (OGT) and its antagonist O-GlcNAcase (OGA) regulate protein O-GlcNAcylation, a highly conserved post-translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X-linked congenital disor…
Preview only. Read the full abstract at the source