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The condition is histopathologically defined by focal lesions with patchy areas of increased oligodendroglial cell density at the grey-white matter boundary and heterotopic neurons in the white matter. Approximately half of the individuals with MOGHE carry brain somatic variants in the\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    gene, which affects the UDP-galactose transporter and thus sphingolipid glycosylation. To investigate the impact of\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    variants on protein expression, we analysed MOGHE brain tissue with and without\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    mosaicism, distinguishing missense from nonsense variants. We developed an antibody targeting the N-terminus of the SLC35A2 galactose transporter and applied it for immunofluorescence (IF) analyses in a MOGHE cohort comprising 59 genetically tested individuals selected from three centres in Germany. The cohort included 13 individuals with\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    missense variants and 15 with\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    nonsense variants. Our findings confirm the localisation of the SLC35A2 protein in the Golgi apparatus of all neuroepithelial cell types as well as within Golgi outposts along oligodendroglial processes. The protein distribution was altered in MOGHE samples dependent on the\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    variant and its allelic frequency. Western blot and IF analyses revealed a significant SLC35A2 reduction in MOGHE tissues carrying nonsense variants. Ultrastructural analyses from three MOGHE samples demonstrated hypomyelination in regions with increased oligodendroglial cell densities, regardless of the harbouring of\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    variants. Notably, this hypomyelination pattern decreased with age. These results suggested a role for the SLC35A2 protein in the pathogenesis of MOGHE and indicated the presence of additional myelin-associated pathomechanisms in those individuals who do not carry a pathogenic\n                    <jats:italic>SLC35A2<\/jats:italic>\n                    variant.\n                  <\/jats:p>","DOI":"10.1007\/s00401-025-02858-7","type":"journal-article","created":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T01:25:16Z","timestamp":1741137916000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matter"],"prefix":"10.1007","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5038-7904","authenticated-orcid":false,"given":"Erica","family":"Cecchini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Geffers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8617-0913","authenticated-orcid":false,"given":"Roland","family":"Coras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothea","family":"Schultheis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Holtzhausen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2919-9458","authenticated-orcid":false,"given":"Kristina","family":"Karandasheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5312-7318","authenticated-orcid":false,"given":"Friedrich","family":"Paulsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1766-5458","authenticated-orcid":false,"given":"Christine","family":"Stadelmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0074-2480","authenticated-orcid":false,"given":"Katja","family":"Kobow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0854-5537","authenticated-orcid":false,"given":"Till","family":"Hartlieb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2225-8654","authenticated-orcid":false,"given":"Christian G.","family":"Bien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5173-9636","authenticated-orcid":false,"given":"Dennis","family":"Lal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8676-0788","authenticated-orcid":false,"given":"Ingmar","family":"Blumcke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3801-1595","authenticated-orcid":false,"given":"Lucas","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"2858_CR1","doi-asserted-by":"publisher","first-page":"1294","DOI":"10.1007\/s13311-023-01395-z","volume":"20","author":"A Aledo-Serrano","year":"2023","unstructured":"Aledo-Serrano A, Valls-Carbo A, Fenger CD, Groeppel G, Hartlieb T, Pascual I et al (2023) d-galactose supplementation for the treatment of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): a pilot trial of precision medicine after epilepsy surgery. 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