Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matter
Sign Up to like & getrecommendations! Published in 2025 at "Acta Neuropathologica"
DOI: 10.1007/s00401-025-02858-7
Abstract: Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) is a recently described disease entity primarily affecting young children with drug-resistant epilepsy, mainly affecting the frontal lobe. The condition is histopathologically defined by… read more here.
Keywords: moghe; slc35a2; white matter; slc35a2 variants ... See more keywords
Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel activity assay.
Sign Up to like & getrecommendations! Published in 2019 at "Glycobiology"
DOI: 10.1093/glycob/cwz016
Abstract: SLC35A2 transports UDP-galactose from the cytosol to the lumen of the Golgi apparatus and endoplasmic reticulum for glycosylation. Mutations in SLC35A2 induce a congenital disorder of glycosylation. Despite the biomedical relevance, mechanisms of transport via… read more here.
Keywords: udp galactose; shiga; disease; slc35a2 ... See more keywords
Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex.
Sign Up to like & getrecommendations! Published in 2025 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaf156
Abstract: Brain somatic variants in the SLC35A2 gene, encoding for a Golgi galactose transporter, represent the major cause of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Clinical features associated with MOGHE include… read more here.
Keywords: slc35a2; slc35a2 variants; slc35a2 pathogenetic; expression slc35a2 ... See more keywords