DPAGT1‐Mediated Protein N‐Glycosylation Is Indispensable for Oocyte and Follicle Development in Mice
Sign Up to like & getrecommendations! Published in 2020 at "Advanced Science"
DOI: 10.1002/advs.202000531
Abstract: Abstract Post‐translational modification of proteins by N‐linked glycosylation is crucial for many life processes. However, the exact contribution of N‐glycosylation to mammalian female reproduction remains largely undefined. Here, DPAGT1, the enzyme that catalyzes the first… read more here.
Keywords: indispensable oocyte; protein glycosylation; dpagt1; glycosylation ... See more keywords
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0641
Abstract: Abstract Objectives Congenital Glycosylation Disorders (CDG) are a large group of inherited metabolic diseases with multi-organ involvement. Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses… read more here.
Keywords: cdg; srd5a3 cdg; dpm1; dpagt1 ... See more keywords
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231912005
Abstract: Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. CDGs usually affect multiple organ systems… read more here.
Keywords: myasthenic syndrome; dpagt1; mice; mutation ... See more keywords